Filtros de búsqueda

Lista de obras de Charis Eng

2574. Temporal Changes in the Vaginal Microbiome During Treatment for Bacterial Vaginosis: Is Lactobacillus Iners an Important Player?

2576. The Microbiome of Recurrent Bacterial Vaginosis Compared with Asymptomatic Controls

artículo científico publicado en 2019

31st Annual Meeting and Associated Programs of the Society for Immunotherapy of Cancer (SITC 2016): part two: National Harbor, MD, USA. 9-13 November 2016

artículo científico publicado en 2016

65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma

artículo científico publicado en 2018

65 YEARS OF THE DOUBLE HELIX: It's all in the DNA: understanding and managing endocrine neoplasms

artículo científico publicado en 2018

65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: PTEN-opathies and precision medicine

artículo científico publicado en 2018

A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing

artículo científico publicado en 2002

A Meta-Analysis of Gaze Differences to Social and Nonsocial Information Between Individuals With and Without Autism

artículo científico publicado en 2017

A Network Medicine Approach to Investigation and Population-based Validation of Disease Manifestations and Drug Repurposing for COVID-19

artículo científico publicado en 2020

A Nonpump Function of Sodium Iodide Symporter in Thyroid Cancer via Cross-talk with PTEN Signaling

scientific article published on 14 September 2018

A Systems Pharmacology Approach Uncovers Wogonoside as an Angiogenesis Inhibitor of Triple-Negative Breast Cancer by Targeting Hedgehog Signaling

scientific article published on 06 June 2019

A bird's eye view of global methylation

article by Charis Eng et al published February 2000 in Nature Genetics

A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands

artículo científico publicado en 2011

A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes

article

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma

artículo científico publicado en 2002

A genome-wide positioning systems network algorithm for in silico drug repurposing

scientific article published on 02 August 2019

A germlinePTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus

article

A large health system's approach to utilization of the genetic counselor CPT® 96040 code

artículo científico publicado en 2011

A limited set of human MicroRNA is deregulated in follicular thyroid carcinoma.

artículo científico publicado en 2006

A multi-institutional phase II study of the efficacy and tolerability of lapatinib in patients with advanced hepatocellular carcinomas

artículo científico publicado en 2009

A network medicine approach to investigation and population-based validation of disease manifestations and drug repurposing for COVID-19

artículo científico publicado en 2020

A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma.

artículo científico publicado en 2013

A novel mutation in the tyrosine kinase domain of ERBB2 in hepatocellular carcinoma

artículo científico publicado en 2006

A novel polymorphism in the coding sequence of the human RET proto-oncogene

article

A novelPTEN mutation in Cowden syndrome is associated with a mixed degenerative-erosive arthritic process: Potential molecular pathogenic mechanisms

scientific article published on 01 July 2007

A practical guide to interpretation and clinical application of personal genomic screening

scientific article published on 29 October 2009

A registry-based study of thyroid paraganglioma: histological and genetic characteristics

artículo científico publicado en 2015

A reinvestigation of somatic hypermethylation at the PTEN CpG island in cancer cell lines

artículo científico publicado en 2012

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.

artículo científico publicado en 2017

A role for mitochondrial enzymes in inherited neoplasia and beyond

artículo científico publicado en 2003

A time study of cancer genetic counselors using a genetic counselor-only patient care model versus a traditional combined genetic counselor plus medical geneticist care model

artículo científico publicado en 2013

A twin study of heritable and shared environmental contributions to autism.

artículo científico publicado en 2014

A unified nomenclature and amino acid numbering for human PTEN.

artículo científico publicado en 2014

ACG Guidelines on Management of PTEN-Hamartoma Tumor Syndrome: Does the Evidence Support so Much so Young?

artículo científico publicado en 2015

AP-2alpha induces epigenetic silencing of tumor suppressive genes and microsatellite instability in head and neck squamous cell carcinoma

artículo científico publicado en 2009

APC-dependent suppression of colon carcinogenesis by PPARgamma

scientific journal article

ATP modulates PTEN subcellular localization in multiple cancer cell lines.

artículo científico publicado en 2008

Activation of AR sensitizes breast carcinomas to NVP-BEZ235's therapeutic effect mediated by PTEN and KLLN upregulation

artículo científico publicado en 2014

Activation of the PI3K/AKT pathway induces urothelial carcinoma of the renal pelvis: identification in human tumors and confirmation in animal models

artículo científico publicado en 2009

Activator protein 2 alpha (AP2alpha) suppresses 42 kDa C/CAAT enhancer binding protein alpha (p42(C/EBPalpha)) in head and neck squamous cell carcinoma

artículo científico publicado en 2009

Addressing gaps in physician education using personal genomic testing

artículo científico publicado en 2011

Adenomatoid tumour of the adrenal gland in a patient with germline SDHD mutation: a case report and review of the literature

article

Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

article

Age at first full-term birth and breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 17 May 2018

Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation.

artículo científico publicado en 2008

Age-related penetrance of hereditary atypical hemolytic uremic syndrome

artículo científico publicado en 2011

Allele-specific tumor spectrum in pten knockin mice

artículo científico publicado en 2010

Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation

artículo científico publicado en 1998

Alternative splicing landscape of the neural transcriptome in a cytoplasmic-predominant Pten expression murine model of autism-like Behavior

artículo científico publicado en 2020

An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships

scientific article published on 19 May 2020

An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome

artículo científico publicado en 2003

Analysis of Gut Microbiome Reveals Significant Differences between Men with Chronic Prostatitis/Chronic Pelvic Pain Syndrome and Controls

artículo científico publicado en 2016

Analysis of genetic and phenotypic heterogeneity in juvenile polyposis

artículo científico publicado en 2000

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model

artículo científico publicado en 2011

Analysis of the 10q23 chromosomal region and the PTEN gene in human sporadic breast carcinoma.

artículo científico publicado en 1999

Analysis of the PTEN gene in human meningiomas

article

Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.

artículo científico publicado en 2001

Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249.

artículo científico publicado en 2005

Androgen receptor-induced tumor suppressor, KLLN, inhibits breast cancer growth and transcriptionally activates p53/p73-mediated apoptosis in breast carcinomas

artículo científico publicado en 2013

Assessment of clinical workload for general and specialty genetic counsellors at an academic medical center: a tool for evaluating genetic counselling practices

artículo científico publicado en 2016

Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes

artículo científico publicado en 2001

Association of specific PTEN/10q haplotypes with endometrial cancer phenotypes in African-American and European American women

artículo científico publicado en 2015

Autism spectrum disorders as a qualitatively distinct category from typical behavior in a large, clinically ascertained sample

artículo científico publicado en 2009

Autoimmunity, Intestinal Lymphoid Hyperplasia, and Defects in Mucosal B-Cell Homeostasis in Patients With PTEN Hamartoma Tumor Syndrome

artículo científico publicado en 2012

BDNF and COMT, but not APOE, alleles are associated with psychiatric symptoms in refractory epilepsy

artículo científico publicado en 2019

BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels

artículo científico publicado en 2003

BMPR2mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia

artículo científico publicado en 2008

Bacteriome and mycobiome and bacteriome-mycobiome interactions in head and neck squamous cell carcinoma

artículo científico publicado en 2020

Bacteriome and mycobiome associations in oral tongue cancer

artículo científico publicado en 2017

Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder

artículo científico publicado en 2015

Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors

artículo científico publicado en 2004

Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3

article

Bilateral Oophorectomy and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2016

Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly

scientific article published on 22 May 2013

Bioethical and Clinical Dilemmas of Direct-to-Consumer Personal Genomic Testing: The Problem of Misattributed Equivalence

scholarly article by Charis Eng & R. R. Sharp published 3 February 2010 in Science Translational Medicine

BluepRINT for moderate-to-low penetrance cancer susceptibility genes needed: breast cancer and beyond

artículo científico publicado en 2014

Breast cancer risk and clinical implications for germline PTEN mutation carriers

artículo científico

Breast tissue, oral and urinary microbiomes in breast cancer.

artículo científico publicado en 2017

Breast-Cancer Stromal Cells withTP53Mutations and Nodal Metastases

artículo científico publicado en 2007

Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation

scientific article published on 30 September 2020

Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy

artículo científico publicado en 2013

Building an innovative model for personalized healthcare

article

CASE 4. Fibrocystic breast disease in a 16-year-old female with PTEN hamartoma tumor syndrome

artículo científico publicado en 2006

Cancer (Epi)Genomics Comes of Age

artículo científico publicado en 2020

Cancer Characteristics in Swedish Families Fulfilling Criteria for Hereditary Nonpolyposis Colorectal Cancer

Cancer phenomics: RET and PTEN as illustrative models

artículo científico publicado en 2007

Cancer-predisposition gene KLLN maintains pericentric H3K9 trimethylation protecting genomic stability

artículo científico publicado en 2015

Cancer: A ringleader identified.

artículo científico publicado en 2008

Carney Complex, Peutz-Jeghers Syndrome, Cowden Disease, and Bannayan-Zonana Syndrome Share Cutaneous and Endocrine Manifestations, But Not Genetic Loci

Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci

artículo científico publicado en 1998

Caveolin-1 and caveolin-2,together with three bone morphogenetic protein-related genes, may encode novel tumor suppressors down-regulated in sporadic follicular thyroid carcinogenesis

artículo científico publicado en 2003

Changes in endometrial PTEN expression throughout the human menstrual cycle

artículo científico publicado en 2000

Characteristics of Intracranial Aneurysms in the Else Kröner-Fresenius Registry of Autosomal Dominant Polycystic Kidney Disease ⬇️

artículo científico publicado el 9 de octubre de 2012

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome

artículo científico publicado en 2017

Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.

artículo científico publicado en 2015

Characterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583

artículo científico publicado en 2012

Chromosome 3 status in uveal melanoma: a comparison of fluorescence in situ hybridization and single-nucleotide polymorphism array

artículo científico publicado en 2012

Circulating tumor cells in uveal melanoma

artículo científico publicado en 2011

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

article

Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention

artículo científico publicado en 2017

Clinical Implications for Germline PTEN Spectrum Disorders

artículo científico publicado en 2017

Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

artículo científico publicado en 2007

Clinical genetic counselling for familial cancers requires reliable data on familial cancer risks and general action plans

artículo científico publicado en 2004

Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients

artículo científico publicado en 2009

Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out

artículo científico publicado en 2009

Coffee consumption and breast cancer risk amongBRCA1 andBRCA2 mutation carriers

article

Cognitive characteristics of PTEN hamartoma tumor syndromes

artículo científico publicado en 2013

Combined total genome loss of heterozygosity scan of breast cancer stroma and epithelium reveals multiplicity of stromal targets.

artículo científico publicado en 2004

Common alleles of predisposition in endocrine neoplasia

scientific article published on 06 March 2010

Communicating with biobank participants: preferences for receiving and providing updates to researchers

artículo científico publicado en 2015

Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome

artículo científico publicado en 2007

Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.

artículo científico publicado en 2019

Comparison of family health history to personal genomic screening for risk assessment of colon cancer

artículo científico publicado en 2011

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors

artículo científico publicado en 2020

Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma.

artículo científico publicado en 2006

Comprehensive mutational scanning of the p53 coding region by two- dimensional gene scanning

article

Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer

scientific article published on 18 April 2019

Consortium approach to identifying genes for Barrett's esophagus and esophageal adenocarcinoma

artículo científico publicado en 2007

Constipation, polyps, or cancer? let PTEN predict your future ⬇️

artículo científico publicado el 1 de noviembre de 2003

Constitutional mislocalization of Pten drives precocious maturation in oligodendrocytes and aberrant myelination in model of autism spectrum disorder

artículo científico publicado en 2019

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes

artículo científico publicado en 2006

Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations

artículo científico publicado en 2020

Correction to: Survival from breast cancer in women with a BRCA2 mutation by treatment

artículo científico publicado en 2023

Cost-effective method for growing three-dimensional cell cultures in extracellular matrix extract.

artículo científico publicado en 2009

Cowden Syndrome

artículo científico publicado en 2007

Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation

artículo científico publicado en 2007

Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation

artículo científico publicado en 2014

Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells

artículo científico publicado en 2017

Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity

artículo científico publicado en 2013

Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome

artículo científico publicado en 2014

Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits.

artículo científico publicado en 2015

Cytoplasmic-predominant Pten increases microglial activation and synaptic pruning in a murine model with autism-like phenotype

artículo científico publicado en 2020

De-novo mutations of the RET proto-oncogene in Hirschsprung's disease

artículo científico publicado en 1994

Decision Aids From Genetics to Treatment of Breast Cancer

artículo científico publicado en 2004

Decreased nuclear Pten in neural stem cells contributes to deficits in neuronal maturation

scientific article published on 01 June 2020

Defining phenotypes and cancer risk in hyperplastic polyposis syndrome

artículo científico publicado en 2011

Demographic and clinical correlates of autism symptom domains and autism spectrum diagnosis

artículo científico publicado en 2013

Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis

artículo científico publicado en 2015

Development and Validation of Objective and Quantitative Eye Tracking-Based Measures of Autism Risk and Symptom Levels

scholarly article by Thomas W Frazier et al published November 2018 in Journal of the American Academy of Child and Adolescent Psychiatry

Development of an Objective Autism Risk Index Using Remote Eye Tracking

artículo científico publicado en 2016

Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN

article

Differential expression of PTEN-targeting microRNAs miR-19a and miR-21 in Cowden syndrome

artículo científico publicado en 2008

Differential expression of novel naturally occurring splice variants of PTEN and their functional consequences in Cowden syndrome and sporadic breast cancer

artículo científico publicado en 2006

Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas

scientific article published on 01 December 2000

Differential regulation of PTEN expression by androgen receptor in prostate and breast cancers

artículo científico publicado en 2011

Direct Evidence for Epithelial-Mesenchymal Transitions in Breast Cancer

article

Disruption of transforming growth factor-beta signaling by five frequently methylated genes leads to head and neck squamous cell carcinoma pathogenesis

artículo científico publicado en 2009

Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome

scientific article published on 26 September 2019

Distinct PTEN mutational spectra in hereditary non-polyposis colon cancer syndrome-related endometrial carcinomas compared to sporadic microsatellite unstable tumors.

artículo científico publicado en 2002

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations

artículo científico publicado en 2004

Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

artículo científico publicado en 2006

Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations

artículo científico publicado en 2022

Does preventive oophorectomy increase the risk of depression in BRCA mutation carriers?

artículo científico publicado en 2020

Does the age of breast cancer diagnosis in first-degree relatives impact on the risk of breast cancer in BRCA1 and BRCA2 mutation carriers?

artículo científico publicado en 2015

Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes.

artículo científico publicado en 2018

EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis

artículo científico publicado en 2006

Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma

artículo científico publicado en 2003

Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome

scientific article published on 29 September 2020

Editorial: Germline Variants within RET: Clinical Utility or Scientific Playtoy?

artículo científico publicado en 2005

Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals

artículo científico publicado en 2012

Emergence, involution, and progression to carcinoma of mutant clones in normal endometrial tissues

artículo científico publicado en 2014

Engaging basic scientists in translational research

scholarly article by Anne Deschamps & Charis Eng published June 2012 in Endocrine-related cancer

Engaging basic scientists in translational research: identifying opportunities, overcoming obstacles

artículo científico publicado en 2012

Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany

artículo científico publicado en 2013

Equality in lynch syndrome screening: why should we hold patients with endometrial cancer to a different standard?

artículo científico publicado en 2014

Erratum to: Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits

artículo científico publicado en 2016

Essential role for nuclear PTEN in maintaining chromosomal integrity

scientific journal article

Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome

artículo científico publicado en 2012

Evaluation of germline sequence variants of GFRA1, GFRA2, and GFRA3 genes in a cohort of Spanish patients with sporadic medullary thyroid cancer

artículo científico publicado en 2002

Evidence of MEN-2 in the original description of classic pheochromocytoma.

artículo científico publicado en 2007

Evil lurks in the heart of man: cardiac paraganglioma presenting as recurrent dyspnoea and chronic cough

artículo científico publicado en 2011

Exome Sequencing Reveals Germline SMAD9 Mutation That Reduces Phosphatase and Tensin Homolog Expression and Is Associated With Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas.

artículo científico publicado en 2015

Exome sequencing in familial colorectal cancer: searching for needles in haystacks.

artículo científico publicado en 2014

Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte-Duclos disease.

artículo científico publicado en 2016

Expression of vascular endothelial growth factor in uveal melanoma is independent of 6p21-region copy number.

artículo científico publicado en 2005

Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation

artículo científico publicado en 2008

Familial adenomatous polyposis in a patient with unexplained mental retardation

artículo científico publicado en 2007

Familial cancer syndromes

artículo científico publicado en 1994

Familial hyperparathyroidism: Surgical outcome after 30 years of follow-up in 3 families with germline HRPT2 mutations

Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations.

artículo científico publicado en 2008

Familial papillary thyroid cancer--many syndromes, too many genes?

artículo científico publicado en 2000

Familial risk for soft tissue tumors: a nation-wide epidemiological study from Sweden

scholarly article by Jianguang Ji et al published 11 October 2007 in Journal of Cancer Research and Clinical Oncology

Familial risks for nonmedullary thyroid cancer

artículo científico publicado en 2005

Familiality in Barrett's esophagus, adenocarcinoma of the esophagus, and adenocarcinoma of the gastroesophageal junction.

artículo científico publicado en 2006

Fine-structure deletion mapping of 10q22-24 identifies regions of loss of heterozygosity and suggests that sporadic follicular thyroid adenomas and follicular thyroid carcinomas develop along distinct neoplastic pathways

artículo científico publicado en 1999

First Report of Ovarian Dysgerminoma in Cowden Syndrome with Germline PTEN Mutation and PTEN-related 10q Loss of Tumor Heterozygosity

article

Four Cases of Mucosal Neuroma Syndrome: Multiple Endocrine Neoplasm 2B or Not 2B?1 ⬇️

artículo científico publicado el 1 de enero de 1998

Frequency of Germline Genomic Homozygosity Associated With Cancer Cases

scientific article published in The Journal of the American Medical Association

Frequency of germline PTEN mutations in differentiated thyroid cancer

artículo científico publicado en 2011

Frequent epigenetic inactivation of the SLIT2 gene in gliomas

artículo científico publicado en 2003

Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers

artículo científico publicado en 2010

Frequent somatic mutations in PTEN and TP53 are mutually exclusive in the stroma of breast carcinomas

article

From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family

artículo científico publicado en 2003

Functioning Paraganglioma and Gastrointestinal Stromal Tumor of the Jejunum in Three Women

article

GATA2 negatively regulates PTEN by preventing nuclear translocation of androgen receptor and by androgen-independent suppression of PTEN transcription in breast cancer

artículo científico publicado en 2011

GI polyposis and glycogenic acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestations

scientific article published on 01 June 2003

Gastroesophageal reflux symptoms in patients with adenocarcinoma of the esophagus or cardia

artículo científico publicado en 2006

Gastrointestinal polyposis and PTEN mutations: an under-acknowledged diagnostic criterion.

artículo científico publicado en 2010

Gene expression profiling identifies MMP-12 and ADAMDEC1 as potential pathogenic mediators of pulmonary sarcoidosis

artículo científico publicado en 2009

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma

artículo científico publicado en 2001

Gene-expression profiling in differentiated thyroid cancer--a viable strategy for the practice of genomic medicine?

artículo científico publicado en 2005

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

article

Genetic Classification of Benign and Malignant Thyroid Follicular Neoplasia Based on a Three-Gene Combination

article

Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility

artículo científico publicado en 2003

Genetic and clinical investigation of pheochromocytoma: a 22-year experience, from Freiburg, Germany to international effort.

artículo científico publicado en 2006

Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome.

artículo científico publicado en 2008

Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

artículo científico publicado en 1997

Genetic/familial high-risk assessment: breast and ovarian

artículo científico publicado en 2006

Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors

artículo científico publicado en 2007

Genetics of cognition in epilepsy

artículo científico publicado en 2014

Genome-wide tracts of homozygosity and exome analyses reveal repetitive elements with Barrets esophagus/esophageal adenocarcinoma risk

artículo científico publicado en 2019

Genomic Alterations in Tumor Stroma

artículo científico publicado en 2009

Genomic instability within tumor stroma and clinicopathological characteristics of sporadic primary invasive breast carcinoma

artículo científico publicado en 2007

Genomic organization and chromosomal localization of the humanCUL2 gene and the role of von Hippel-Lindau tumor suppressor-binding protein (CUL2 and VBP1) mutation and loss in renal-cell carcinoma development

artículo científico publicado en 1999

Germ-line mutations in nonsyndromic pheochromocytoma

artículo científico publicado en 2002

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

artículo científico publicado en 1993

Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma

artículo científico publicado en 2020

Germline Genomic Homozygosity and Cancer Risk—Reply

artículo científico publicado en 2008

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer

scientific journal article

Germline Inactivation of PTEN and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway Cause Human Lhermitte-Duclos Disease in Adults ⬇️

artículo científico publicado el 17 de octubre de 2003

Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

artículo científico publicado en 2007

Germline PARP4 mutations in patients with primary thyroid and breast cancers

artículo científico publicado en 2015

Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes

artículo científico publicado en 2012

Germline PTEN Mutation Analysis for PTEN Hamartoma Tumor Syndrome

artículo científico publicado en 2016

Germline PTEN mutations are associated with a skewed peripheral immune repertoire in humans and mice

artículo científico publicado en 2020

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway

artículo científico publicado en 2003

Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study

artículo científico publicado en 2014

Germline SDHD mutation in familial phaeochromocytoma

artículo científico publicado en 2001

Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53.

artículo científico publicado en 2011

Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.

artículo científico publicado en 2017

Germline alterations in RASAL1 in Cowden syndrome patients presenting with follicular thyroid cancer and in individuals with apparently sporadic epithelial thyroid cancer

artículo científico publicado en 2014

Germline and somatic DNA methylation and epigenetic regulation of KILLIN in renal cell carcinoma.

artículo científico publicado en 2011

Germline and somatic KLLN alterations in breast cancer dysregulate G2 arrest

artículo científico publicado en 2013

Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer

artículo científico publicado en 2015

Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.

scientific article published on 20 May 2009

Germline compound heterozygous poly-glutamine deletion in USF3 may be involved in predisposition to heritable and sporadic epithelial thyroid carcinoma

artículo científico publicado en 2016

Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production

artículo científico publicado en 2014

Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome

artículo científico publicado en 2010

Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes

artículo científico publicado en 2008

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes

artículo científico publicado en 2001

Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma

artículo científico publicado en 2011

Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma

artículo científico publicado en 2007

Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites

artículo científico publicado en 2011

Germline nuclear-predominant Pten murine model exhibits impaired social and perseverative behavior, microglial activation, and increased oxytocinergic activity

artículo científico publicado en 2021

Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population

article

Glucocorticoid receptor β stimulates Akt1 growth pathway by attenuation of PTEN.

artículo científico publicado en 2014

Gut microbiome and chronic prostatitis/chronic pelvic pain syndrome

artículo científico publicado en 2017

HABP2 in Familial Non-medullary Thyroid Cancer: Will the Real Mutation Please Stand Up?

artículo científico publicado en 2016

HPV status-independent association of alcohol and tobacco exposure or prior radiation therapy with promoter methylation of FUSSEL18, EBF3, IRX1, and SEPT9, but not SLC5A8, in head and neck squamous cell carcinomas

artículo científico publicado en 2010

Hamartomatous polyposis syndromes.

artículo científico publicado en 2007

Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2

artículo científico publicado en 2009

Head circumference in the clinical detection of PTEN hamartoma tumor syndrome in a clinic population at high-risk of breast cancer

artículo científico publicado en 2010

Heritable clustering and pathway discovery in breast cancer integrating epigenetic and phenotypic data

artículo científico publicado en 2007

High Frequency of Large Gene Deletions and Rearrangements in Lynch Syndrome–Back to the Future?

article

High Frequency of Loss of Heterozygosity in Imprinted, Compared with Nonimprinted, Genomic Regions in Follicular Thyroid Carcinomas and Atypical Adenomas

artículo científico publicado en 2005

High frequency of submicroscopic hemizygous deletion is a major mechanism of loss of expression of PTEN in uveal melanoma

artículo científico publicado en 2005

Highly penetrant hereditary cancer syndromes.

artículo científico publicado en 2004

Hormone replacement therapy after menopause and risk of breast cancer in BRCA1 mutation carriers: a case-control study

artículo científico publicado en 2016

How to spot heritable breast cancer: a primary care physician's guide

artículo científico publicado en 2014

Human breast microbiome correlates with prognostic features and immunological signatures in breast cancer

artículo científico publicado en 2021

Hunting for cancer in the microbial jungle

artículo científico publicado en 2013

Hypomethylation of noncoding DNA regions and overexpression of the long noncoding RNA, AFAP1-AS1, in Barrett's esophagus and esophageal adenocarcinoma

artículo científico publicado en 2013

IL13RA2 Is Differentially Regulated in Papillary Thyroid Carcinoma vs Follicular Thyroid Carcinoma

scientific article published on 01 November 2019

Identification of nuclear export signal in KLLN suggests potential role in proteasomal degradation in cancer cells

artículo científico publicado en 2020

Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells

artículo científico publicado en 2016

Immunotherapeutic target expression on breast tumors can be amplified by hormone receptor antagonism: a novel strategy for enhancing efficacy of targeted immunotherapy

artículo científico publicado en 2017

Impact of Multigene Panel Testing on Surgical Decision Making in Breast Cancer Patients

artículo científico publicado en 2018

Impact of an embedded genetic counselor on breast cancer treatment

artículo científico publicado en 2018

Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1

artículo científico publicado en 2008

Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center

artículo científico publicado en 2013

Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center.

artículo científico publicado en 2013

Implementing Genomic Medicine in the Clinic

Implementing genomic medicine in the clinic: the future is here

artículo científico publicado en 2013

Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations

artículo científico publicado en 2011

Increased PTEN expression due to transcriptional activation of PPARgamma by Lovastatin and Rosiglitazone

artículo científico publicado en 2006

Increased nuclear phosphatase and tensin homologue deleted on chromosome 10 is associated with G0-G1 in MCF-7 cells

artículo científico publicado en 2003

Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromes

artículo científico publicado en 2014

Individualized genetic network analysis reveals new therapeutic vulnerabilities in 6,700 cancer genomes

artículo científico publicado en 2020

Inflammatory disease of the aorta: patterns and classification of giant cell aortitis, Takayasu arteritis, and nonsyndromic aortitis

artículo científico publicado en 2014

Integrated analysis reveals critical genomic regions in prostate tumor microenvironment associated with clinicopathologic phenotypes.

artículo científico publicado en 2012

Integrative genomic analysis reveals extended germline homozygosity with lung cancer risk in the PLCO cohort

artículo científico publicado en 2012

International rates of breast reconstruction after prophylactic mastectomy in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2013

International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation

scientific article published on 11 April 2019

Interpretation of Genetic Test Results for Hereditary Nonpolyposis Colorectal Cancer

artículo científico publicado en 1999

Interview

artículo científico publicado en 2008

Into the eye of the storm: breast cancer's somatic mutation landscape points to DNA damage and repair

artículo científico publicado en 2013

Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset

artículo científico publicado en 2003

Investigating the Link between Lynch Syndrome and Breast Cancer

scientific article published on 01 April 2020

Investigation of the genes for RET and its ligand complex, GDNF/GFR alpha-I, in small cell lung carcinoma

artículo científico publicado en 1998

Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma.

artículo científico publicado en 2004

KLLN epigenotype-phenotype associations in Cowden syndrome.

artículo científico publicado en 2015

KLLN-mediated DNA damage-induced apoptosis is associated with regulation of p53 phosphorylation and acetylation in breast cancer cells

article published in 2018

LEARNING TO DETECT BRAIN LESIONS FROM NOISY ANNOTATIONS

artículo científico publicado en 2020

Laparoscopic Organ-Sparing Resection of Von Hippel-Lindau Disease-Associated Pancreatic Neuroendocrine Tumors

Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma

artículo científico publicado en 2004

Largescale population genomics versus deep phenotyping: Brute force or elegant pragmatism towards precision medicine

artículo científico publicado en 2019

Lessons learnt from outstanding mid-career women in endocrine cancer research.

artículo científico publicado en 2016

Lhermitte-Duclos disease caused by a novel germline PTEN mutation R173P in a patient presenting with psychosis

artículo científico publicado en 2009

Lifetime cancer risks in individuals with germline PTEN mutations.

artículo científico publicado en 2012

Limitations of Single-Strand Conformation Polymorphism Analysis As a High-Throughput Method for the Detection of EGFR Mutations in the Clinical Setting

artículo científico publicado en 2005

Linkage disequilibrium between two high-frequency deletion polymorphisms: implications for association studies involving the glutathione-S transferase (GST) genes

artículo científico publicado en 2009

Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS)

artículo científico publicado en 1999

Long-term Outcome in a Patient With Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia

scientific article published on 01 April 2007

Long-term prognosis of patients with pediatric pheochromocytoma.

artículo científico publicado en 2013

Loss of expression of protein kinase a regulatory subunit 1alpha in pigmented epithelioid melanocytoma but not in melanoma or other melanocytic lesions

artículo científico publicado en 2007

Loss of heterozygosity in human breast carcinomas in the ataxia telangiectasia, Cowden disease and BRCA1 gene regions

article

Loss-of-Function Mutations in PPARγ Associated with Human Colon Cancer

artículo científico publicado en 1999

Mammalian target of rapamycin (mTOR) regulates cellular proliferation and tumor growth in urothelial carcinoma

artículo científico publicado en 2010

Mapping Geographic Zones of Cancer Risk with Epigenetic Biomarkers in Normal Breast Tissue

artículo científico publicado en 2006

Maternal and fetal outcomes in phaeochromocytoma and pregnancy: a multicentre retrospective cohort study and systematic review of literature

artículo científico publicado en 2020

Max Schottelius: Pioneer in Pheochromocytoma

artículo científico publicado en 2017

Medullary thyroid cancer: management guidelines of the American Thyroid Association

artículo científico publicado en 2009

Mendelian genetics of rare—and not so rare—cancers ⬇️

artículo científico publicado el 28 de septiembre de 2010

Metabolic stress regulates genome-wide transcription in a PTEN-dependent manner

scientific article published on 03 August 2020

Metabolomic analysis identifies differentially produced oral metabolites, including the oncometabolite 2-hydroxyglutarate, in patients with head and neck squamous cell carcinoma

artículo científico publicado en 2016

Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer

article

Microbiomes of Inflammatory Thoracic Aortic Aneurysms Due to Giant Cell Arteritis and Clinically Isolated Aortitis Differ From Those of Non-Inflammatory Aneurysms

Microbiomic differences in tumor and paired-normal tissue in head and neck squamous cell carcinomas.

scientific article published on 07 February 2017

Microbiomic profiles of bile in patients with benign and malignant pancreaticobiliary disease

artículo científico publicado en 2023

Microbiomic subprofiles and MDR1 promoter methylation in head and neck squamous cell carcinoma

artículo científico publicado en 2011

Microenvironmental genomic alterations and clinicopathological behavior in head and neck squamous cell carcinoma

artículo científico publicado en 2007

Microenvironmental genomic alterations reveal signaling networks for head and neck squamous cell carcinoma

artículo científico publicado en 2011

Microenvironmental protection in diffuse large-B-cell lymphoma

artículo científico publicado en 2008

Microsatellite instability and hMLH1/hMSH2 expression in Barrett esophagus-associated adenocarcinoma

artículo científico publicado en 2001

Mismatch Repair Deficiency in Colorectal Cancers: Is Somatic Genomic Testing the Grab-Bag for All Answers?

artículo científico publicado en 2016

Missense mutation in the PTEN promoter of a patient with hemifacial hyperplasia.

artículo científico publicado en 2015

Molecular Classification of Patients With Unexplained Hamartomatous and Hyperplastic Polyposis

artículo científico publicado en 2005

Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease

artículo científico publicado en 1998

Molecular characterisation of a common SDHB deletion in paraganglioma patients.

artículo científico publicado en 2007

Molecular classification of parathyroid neoplasia by gene expression profiling

artículo científico publicado en 2004

Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters

artículo científico publicado en 1998

Molecular genetics to genomic medicine practice: at the heart of value-based delivery of healthcare

artículo científico publicado en 2013

Multimodal single-cell omics analysis identifies epithelium-immune cell interactions and immune vulnerability associated with sex differences in COVID-19

artículo científico publicado en 2021

Multiple Tumors in a Child with Germ-Line Mutations inTP53andPTEN

artículo científico publicado en 2008

Multiple endocrine neoplasia type 2: an overview

artículo científico publicado en 2011

Mutation analysis of glial cell line-derived neurotrophic factor, a ligand for an RET/coreceptor complex, in multiple endocrine neoplasia type 2 and sporadic neuroendocrine tumors

scientific article published on 01 September 1997

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

artículo científico publicado en 1996

Mutation of theRET protooncogene in sporadic medullary thyroid carcinoma

artículo científico publicado en 1995

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer

article

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

artículo científico publicado en 1998

Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes

artículo científico publicado en 2006

Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene

article

Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases

artículo científico publicado en 1998

Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden

article

Mutations of theRET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease

Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study

artículo científico publicado en 2019

Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.

artículo científico publicado en 2010

Neural transcriptome of constitutional Pten dysfunction in mice and its relevance to human idiopathic autism spectrum disorder

artículo científico publicado en 2015

Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN

scientific article published on 08 October 2019

New Genetic and Genomic Approaches After the Genome-wide Association Study Era--Back to the Future

artículo científico

New insights into genetic susceptibility of COVID-19: an ACE2 and TMPRSS2 polymorphism analysis

artículo científico publicado en 2020

No evidence for germline PTEN mutations in families with breast and brain tumours

artículo científico publicado en 1999

Non-canonical role of cancer-associated mutant SEC23B in the ribosome biogenesis pathway

scholarly article by Lamis Yehia published in September 2018

Noncytotoxic suramin as a chemosensitizer in patients with advanced non-small-cell lung cancer: a phase II study.

artículo científico publicado en 2008

Novel germlineCDH1mutations in hereditary diffuse gastric cancer families

article

Nuclear KLLN expression associates with improved relapse-free survival for prostate carcinoma

artículo científico publicado en 2014

Nuclear PTEN expression and clinicopathologic features in a population-based series of primary cutaneous melanoma

artículo científico publicado en 2002

Nuclear PTEN levels and G2 progression in melanoma cells

artículo científico publicado en 2009

Nuclear localization of PTEN is regulated by Ca(2+) through a tyrosil phosphorylation-independent conformational modification in major vault protein

artículo científico publicado en 2006

Nuclear-cytoplasmic partitioning of phosphatase and tensin homologue deleted on chromosome 10 (PTEN) differentially regulates the cell cycle and apoptosis

artículo científico publicado en 2005

OR29-4 Pregnancy Outcomes in Women with Pheochromocytoma and Paraganglioma: An International Multi-Center Study

Obesity, diabetes mellitus, and cancer

scholarly article by Wouter W de Herder & Charis Eng published October 2012 in Endocrine-related cancer

Oophorectomy after menopause and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases

artículo científico publicado en 2001

Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study

artículo científico publicado en 2014

Over-representation of a germline variant in the gene encoding RET co-receptor GFRalpha-1 but not GFRalpha-2 or GFRalpha-3 in cases with sporadic medullary thyroid carcinoma.

artículo científico publicado en 2001

P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase

artículo científico publicado en 1997

PTEN Autoregulates Its Expression by Stabilization of p53 in a Phosphatase-Independent Manner

artículo científico publicado en 2006

PTEN Hamartoma Tumor Syndrome: A Case of Renal Cell Carcinoma in a Young Female

artículo científico publicado en 2020

PTEN Mutations Trigger Resistance to Immunotherapy

artículo científico publicado en 2019

PTEN and inherited hamartoma-cancer syndromes

artículo científico publicado en 1998

PTEN blocks insulin-mediated ETS-2 phosphorylation through MAP kinase, independently of the phosphoinositide 3-kinase pathway

artículo científico publicado en 2002

PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing?

artículo científico publicado en 2013

PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes

artículo científico publicado en 2012

PTEN hamartoma tumor syndrome: an overview

artículo científico publicado en 2009

PTEN hamartoma tumor syndrome: clinical risk assessment and management protocol

artículo científico publicado en 2014

PTEN hamartoma tumour syndrome: What happens when there is no PTEN germline mutation?

artículo científico publicado en 2020

PTEN in Hereditary and Sporadic Cancer

artículo científico publicado en 2020

PTEN interacts with RNA polymerase II to dephosphorylate polymerase II C-terminal domain

scientific article published on 13 August 2019

PTEN is inversely correlated with the cell survival factor Akt/PKB and is inactivated via multiple mechanismsin haematological malignancies

artículo científico publicado en 1999

PTEN lipid phosphatase activity and proper subcellular localization are necessary and sufficient for down-regulating AKT phosphorylation in the nucleus in Cowden syndrome.

artículo científico publicado en 2012

PTEN modulates gene transcription by redistributing genome-wide RNA polymerase II occupancy

artículo científico publicado en 2019

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

artículo científico publicado en 1999

PTEN mutational spectra, expression levels, and subcellular localization in microsatellite stable and unstable colorectal cancers

artículo científico publicado en 2002

PTEN mutations are common in sporadic microsatellite stable colorectal cancer

artículo científico publicado en 2004

PTEN regulates phospholipase D and phospholipase C.

artículo científico publicado en 2007

PTEN-opathies: from biological insights to evidence-based precision medicine

scientific article published on 07 January 2019

PTEN: one gene, many syndromes

artículo científico publicado en 2003

PTENHamartoma Tumor Syndrome

PTENhamartoma tumor syndrome and Gorham-Stout phenomenon

artículo científico publicado en 2012

PTENmutations: help spot thyroid cancer before it occurs

scientific article published on 01 May 2012

Papillary and follicular thyroid carcinomas show distinctly different microarray expression profiles and can be distinguished by a minimum of five genes

artículo científico publicado en 2004

Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome

artículo científico publicado en 2012

Passing of the baton

scientific article published on 01 December 2020

Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome

artículo científico publicado en 2009

Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care

artículo científico publicado en 2017

Penetrance and clinical manifestations of non-hotspot germline RET mutation, C630R, in a family with medullary thyroid carcinoma

artículo científico publicado en 2005

Peroxisome proliferator-activated receptor gamma is frequently downregulated in a diversity of sporadic nonmedullary thyroid carcinomas

article

Peroxisome proliferator-activated receptor gamma-mediated differentiation: a mutation in colon cancer cells reveals divergent and cell type-specific mechanisms

artículo científico publicado en 2003

Personal Mutanomes Meet Modern Oncology Drug Discovery and Precision Health

article

Personalised care and the genome

artículo científico publicado en 2012

Personalizing patient care

artículo científico publicado en 2012

Pharmacogenomics for Immunotherapy and Immune-related Cardiotoxicity

artículo científico publicado en 2020

Pharmacogenomics: An evolving clinical tool for precision medicine

artículo científico publicado en 2020

Phase I study of pegylated liposomal doxorubicin, paclitaxel, and cisplatin in patients with advanced solid tumors

artículo científico publicado en 2001

Pheochromocytoma and Paraganglioma

scientific article published on 01 August 2019

Pheochromocytoma and Paraganglioma. Reply

scientific article published on 01 November 2019

Pheochromocytoma – where are we? Where should we go? A medical and scientific odyssey

article by Hartmut P. H. Neumann et al published March 2005 in Familial Cancer

Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) has nuclear localization signal-like sequences for nuclear import mediated by major vault protein

artículo científico publicado en 2005

Physical activity during adolescence and young adulthood and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2018

Phytoestrogen exposure elevates PTEN levels

artículo científico publicado en 2005

Pilot study of rosiglitazone therapy in women with breast cancer: effects of short-term therapy on tumor tissue and serum markers.

artículo científico publicado en 2007

Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice

artículo científico publicado en 2015

Population-based universal screening for Lynch syndrome: ready, set... How?

artículo científico publicado en 2013

Precision medicine in heritable cancer: when somatic tumour testing and germline mutations meet

artículo científico publicado en 2016

Predicting response to EGFR-tyrosine kinase inhibitors among diverse ancestries: just way too polymorphic

scientific article published on 01 January 2007

Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene

artículo científico publicado en 2005

Preliminary report: Late seizure recurrence years after epilepsy surgery may be associated with alterations in brain tissue transcriptome.

artículo científico publicado en 2018

Presymptomatic genetic screening in families with multiple endocrine neoplasia type 2

artículo científico publicado en 1995

Prevalence of HPV Infection in Racial-Ethnic Subgroups of Head and Neck Cancer Patients

artículo científico publicado en 2016

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps

artículo científico publicado en 2013

Prevalence of germline mutations ofMLH1 andMSH2 in hereditary nonpolyposis colorectal cancer families from Spain

article

Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors

artículo científico publicado en 2018

Primary hyperparathyroidism as first manifestation in MEN 2A: an international multicenter study

artículo científico publicado en 2020

Pro-tumorigenic non-pump function of sodium iodide symporter: A reimagined Trojan horse?

Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers.

artículo científico publicado en 2012

Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2018

Protean PTEN: form and function

artículo científico publicado en 2002

Pulmonary arterial hypertension in a patient with Cowden syndrome and the PTEN mutation

artículo científico publicado en 2014

Quantitative autism symptom patterns recapitulate differential mechanisms of genetic transmission in single and multiple incidence families

artículo científico publicado en 2015

Quantitative trait locus (xQTL) approaches identify risk genes and drug targets from non-coding genome findings

artículo científico publicado en 2022

RASAL1 in Thyroid Cancer: Wisdom From an Old Foe

artículo científico publicado en 2013

RASSF1A promoter region CpG island hypermethylation in phaeochromocytomas and neuroblastoma tumours

artículo científico publicado en 2001

RE: Cowden syndrome and PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria

scientific article published on 04 June 2014

RET Y791F Variant Does Not Increase the Risk for Medullary Thyroid Carcinoma.

artículo científico publicado en 2015

Rapid design of denaturing gradient-based two-dimensional electrophoretic gene mutational scanning tests ⬇️

artículo científico publicado el 15 de mayo de 1998

Rectal Cancer: Age Matters in the Affairs of Stage

artículo científico publicado en 2016

Regulation of the PTEN promoter by statins and SREBP.

artículo científico publicado en 2007

Renal cancer in von Hippel-Lindau disease and related syndromes

artículo científico

Reply

artículo científico publicado en 2016

Reply to G. Le Flahec et al

artículo científico publicado en 2016

Reply to Salviati et al.

artículo científico publicado en 2006

Research Highlights: Highlights from the latest articles in personalized medicine

artículo científico publicado en 2013

Response to Bayley: Functional Study Informs Bioinformatic Analysis

artículo científico publicado en 2011

Resveratrol enhances the anti-tumor activity of the mTOR inhibitor rapamycin in multiple breast cancer cell lines mainly by suppressing rapamycin-induced AKT signaling

artículo científico publicado en 2010

Resveratrol regulates the PTEN/AKT pathway through androgen receptor-dependent and -independent mechanisms in prostate cancer cell lines

artículo científico publicado en 2010

Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene. Groupe D'etude des Tumeurs à Calcitonine.

artículo científico publicado en 1998

Risk factors for endometrial cancer among women with a BRCA1 or BRCA2 mutation: a case control study

artículo científico publicado en 2015

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.

artículo científico publicado en 2011

Role of PTEN, a lipid phosphatase upstream effector of protein kinase B, in epithelial thyroid carcinogenesis

artículo científico publicado en 2002

SDHB--a gene for all tumors?

artículo científico publicado en 2008

SNP arrays in heterogeneous tissue: highly accurate collection of both germline and somatic genetic information from unpaired single tumor samples.

artículo científico publicado en 2008

SNP'ing at nasopharyngeal cancer susceptibility: for whom the bell TOLLs

artículo científico publicado en 2006

Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation.

artículo científico publicado en 2006

Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

artículo científico publicado en 2014

Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease

artículo científico publicado en 1996

Serendipity, fate, science and leadership

artículo científico publicado en 2005

Severe TMD/AMKL with GATA1 mutation in a stillborn fetus with Down syndrome

artículo científico publicado en 2007

Should patients with Cowden syndrome undergo prophylactic thyroidectomy?

artículo científico publicado en 2012

Silencing of the maternally imprinted tumor suppressor ARHI contributes to follicular thyroid carcinogenesis

artículo científico publicado en 2004

Silencing of thePTENtumor-suppressor gene in anaplastic thyroid cancer

article

Somatic mutation and germline variants of MINPP1, a phosphatase gene located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomas.

artículo científico publicado en 2001

Something old, something new

artículo científico publicado en 2011

Specific kinesin expression profiles associated with taxane resistance in basal-like breast cancer

artículo científico publicado en 2011

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

article

Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers

artículo científico publicado en 2006

Squamous morules are functionally inert elements of premalignant endometrial neoplasia

artículo científico publicado en 2008

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

artículo científico publicado en 2005

Subtypes of familial breast tumours revealed by expression and copy number profiling

artículo científico publicado en 2009

Systematic comparison of sporadic and syndromic pancreatic islet cell tumors

artículo científico publicado en 2010

TERT and BRAF in thyroid cancer: teaming up for trouble.

artículo científico publicado en 2014

Target identification among known drugs by deep learning from heterogeneous networks

artículo científico publicado en 2020

Targeted therapy for uveal melanoma

artículo científico publicado en 2008

Testicular microlithiasis: recent advances in understanding and management

artículo científico publicado en 2011

The "APCs" of PTCs: Adenomatous Polyposis Syndrome and the Thyroid

scientific article published on 01 March 2020

The Clinical Spectrum of PTEN Mutations

artículo científico publicado en 2019

The ERK1/2 pathway modulates nuclear PTEN-mediated cell cycle arrest by cyclin D1 transcriptional regulation

artículo científico publicado en 2006

The Microbiome of Temporal Arteries

artículo científico publicado en 2019

The Prevalence of Hereditary Hemorrhagic Telangiectasia in Juvenile Polyposis Syndrome

scientific article published on 01 August 2012

The RET IVS1-126G>T variant is strongly associated with the development of sporadic medullary thyroid cancer

artículo científico publicado en 2004

The Urinary Microbiome Differs Significantly Between Patients With Chronic Prostatitis/Chronic Pelvic Pain Syndrome and Controls as Well as Between Patients With Different Clinical Phenotypes.

artículo científico publicado en 2016

The approach to the patient with paraganglioma

artículo científico publicado en 2009

The clinical consequences of hemizygosity across 2 MB of 10q23 are restricted to Cowden syndrome

artículo científico publicado en 2012

The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients

artículo científico publicado en 2013

The expanding role of PTEN in neoplasia: a molecule for all seasons? Commentary re: M. A. Davies, et al., Adenoviral-mediated expression of MMAC/PTEN inhibits proliferation and metastasis of human prostate cancer cells. Clin. Cancer Res., 8: 1904-19

artículo científico publicado en 2002

The impact of pregnancy on breast cancer survival in women who carry a BRCA1 or BRCA2 mutation

artículo científico publicado en 2013

The mechanism of full activation of tumor suppressor PTEN at the phosphoinositide-enriched membrane

artículo científico publicado en 2021

The microbiome in PTEN hamartoma tumor syndrome

artículo científico publicado en 2017

The nuclear affairs of PTEN.

artículo científico publicado en 2008

The penetrance of MEN2 pheochromocytoma is not only determined by RET mutations.

artículo científico publicado en 2017

The pressure rises: update on the genetics of phaeochromocytoma

artículo científico publicado en 2002

The prevalence of hereditary hemorrhagic telangiectasia in Juvenile Polyposis syndrome patients with SMAD4 mutations

artículo científico publicado en 2011

The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis

artículo científico publicado en 1996

The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis

artículo científico publicado en 1996

The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.

artículo científico publicado en 1997

TheRETC620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes

scientific article published on 01 November 2003

Thyroglobulin in Metastatic Thyroid Cancer: Culprit or Red Herring?

artículo científico publicado en 2017

Thyroid cancer genetics: how close are we to personalizing clinical management?

article

Time studies of the tasks associated with comprehensive cancer genetics counseling

artículo científico publicado en 2014

Timing of oral contraceptive use and the risk of breast cancer in BRCA1 mutation carriers

artículo científico publicado en 2014

To be or not to BMP

article published in 2001

Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation.

artículo científico publicado en 2006

Transcription factor KLLN inhibits tumor growth by AR suppression, induces apoptosis by TP53/TP73 stimulation in prostate carcinomas, and correlates with cellular differentiation

artículo científico publicado en 2013

Transcriptome-(phospho)proteome characterization of brain of a germline model of cytoplasmic-predominant Pten expression with autism-like phenotypes

artículo científico publicado en 2021

Transient abnormal myelopoiesis of a newborn not associated with chromosome 21 abnormalities or GATA1 mutations

scientific article published on 30 August 2014

Tumor suppressor activity of CCAAT/enhancer binding protein alpha is epigenetically down-regulated in head and neck squamous cell carcinoma

artículo científico publicado en 2007

Two-dimensional gel proteome reference map of blood monocytes.

artículo científico publicado en 2006

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

artículo científico publicado en 2018

Unregulated smooth-muscle myosin in human intestinal neoplasia

artículo científico publicado en 2008

Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney

scientific article published on 01 June 2004

Update on the molecular diagnosis of endocrine tumors: toward -omics-based personalized healthcare?

artículo científico publicado en 2008

Upper and Lower Gastrointestinal Findings in PTEN Mutation-Positive Cowden Syndrome Patients Participating in an Active Surveillance Program

artículo científico publicado en 2011

Using chatbots to screen for heritable cancer syndromes in patients undergoing routine colonoscopy

artículo científico publicado en 2020

Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes

artículo científico publicado en 2012

Validation of proposed DSM-5 criteria for autism spectrum disorder

artículo científico publicado en 2011

Variability in organ-specific EGFR mutational spectra in tumour epithelium and stroma may be the biological basis for differential responses to tyrosine kinase inhibitors.

artículo científico publicado en 2005

Variable expression of coxsackie-adenovirus receptor in thyroid tumors: implications for adenoviral gene therapy

artículo científico publicado en 2005

Varicella Zoster Virus and Large Vessel Vasculitis, the Absence of an Association

artículo científico publicado en 2017

Verbal memory dysfunction is associated with alterations in brain transcriptome in dominant temporal lobe epilepsy

scientific article published on 18 September 2020

Vitamin E protects against lipid peroxidation and rescues tumorigenic phenotypes in cowden/cowden-like patient-derived lymphoblast cells with germline SDHx variants

artículo científico publicado en 2012

Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.

artículo científico publicado en 2016

WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition

scientific article published on 01 May 2020

WWP1 germline variants are associated with normocephalic autism spectrum disorder

artículo científico publicado en 2020

When Overgrowth Bumps Into Cancer: The PTEN-Opathies

artículo científico publicado en 2013

When overgrowth bumps into cancer: the PTEN-opathies

artículo científico publicado en 2013

Whole-genome sequencing: not yet making the clinical grade

scientific article published on 01 July 2014

cgaTOH: extended approach for identifying tracts of homozygosity

artículo científico publicado en 2013

p53 down-regulates phosphatase and tensin homologue deleted on chromosome 10 protein stability partially through caspase-mediated degradation in cells with proteasome dysfunction

artículo científico publicado en 2006

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda