Lista de obras - Steven G. Rozen - Dominio Público Uruguay

A functional network of gastric-cancer-associated splicing events controlled by dysregulated splicing factors

artículo científico publicado en 2020

A physical map of the human Y chromosome

artículo científico publicado en 2001

A simple procedure for the analysis of single nucleotide polymorphisms facilitates map-based cloning in Arabidopsis

artículo científico publicado en 2000

A tumor-associated splice-isoform of MAP2K7 drives dedifferentiation in MBNL1-low cancers via JNK activation

scientific article published on 29 June 2020

AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes

artículo científico publicado en 2012

Abundant copy-number loss of CYCLOPS and STOP genes in gastric adenocarcinoma

artículo científico publicado en 2015

Abundant gene conversion between arms of palindromes in human and ape Y chromosomes.

artículo científico publicado en 2003

Alterations in metabolic pathways and networks in Alzheimer's disease

artículo científico publicado en 2013

Altered interactions of tryptophan metabolites in first-episode neuroleptic-naive patients with schizophrenia.

artículo científico publicado en 2009

Aristolochic acids and their derivatives are widely implicated in liver cancers in Taiwan and throughout Asia

artículo científico publicado en 2017

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

scientific article published on 04 December 2012

Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types

artículo científico publicado en 2020

Differential pulmonary transcriptomic profiles in murine lungs infected with low and highly virulent influenza H3N2 viruses reveal dysregulation of TREM1 signaling, cytokines, and chemokines.

artículo científico publicado en 2011

Digital phenotyping by consumer wearables identifies sleep-associated markers of cardiovascular disease risk and biological aging

scientific article published on 04 October 2019

Epigenomic profiling of primary gastric adenocarcinoma reveals super-enhancer heterogeneity

artículo científico publicado en 2016

Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes

artículo científico publicado en 2014

Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers

artículo científico publicado en 2013

Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma.

artículo científico publicado en 2014

Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes

scientific article published on 01 May 2012

Exome sequencing of liver fluke-associated cholangiocarcinoma

artículo científico publicado en 2012

Exome-wide Sequencing Shows Low Mutation Rates and Identifies Novel Mutated Genes in Seminomas

artículo científico publicado en 2015

Extensive diversity in circadian regulation of plasma lipids and evidence for different circadian metabolic phenotypes in humans

artículo científico publicado en 2013

Fanconi anemia gene variants in therapy-related myeloid neoplasms.

artículo científico publicado en 2015

Fanconi's anemia in adulthood: chemoradiation-induced bone marrow failure and a novel FANCA mutation identified by targeted deep sequencing

scientific article published on 25 April 2011

First somatic mutation of E2F1 in a critical DNA binding residue discovered in well-differentiated papillary mesothelioma of the peritoneum.

artículo científico publicado en 2011

Genetics of disease

scientific article published on 02 May 2006

Genome maps 7. The human transcript map. Wall chart

artículo científico publicado en 1996

Genome-wide mutational signatures of aristolochic acid and its application as a screening tool

artículo científico publicado en 2013

Genomic landscapes of breast fibroepithelial tumors

artículo científico publicado en 2015

Genomics and genetics of human and primate y chromosomes.

artículo científico

Has the chimpanzee Y chromosome been sequenced?

artículo científico publicado en 2006

HoxC5 and miR-615-3p target newly evolved genomic regions to repress hTERT and inhibit tumorigenesis

artículo científico publicado en 2018

Identification of molecular subtypes of gastric cancer with different responses to PI3-kinase inhibitors and 5-fluorouracil

artículo científico

Improving indel detection specificity of the Ion Torrent PGM benchtop sequencer

artículo científico publicado en 2012

Intrinsic subtypes of gastric cancer, based on gene expression pattern, predict survival and respond differently to chemotherapy

artículo científico publicado en 2011

Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome

artículo científico publicado en 1998

Lipidomics identifies a requirement for peroxisomal function during influenza virus replication

artículo científico publicado en 2014

Loss of tumor suppressor KDM6A amplifies PRC2-regulated transcriptional repression in bladder cancer and can be targeted through inhibition of EZH2.

artículo científico publicado en 2017

MSIseq: Software for Assessing Microsatellite Instability from Catalogs of Somatic Mutations

artículo científico publicado en 2015

Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel

scientific article published on April 2014

Metabolomics in early Alzheimer's disease: identification of altered plasma sphingolipidome using shotgun lipidomics

artículo científico publicado en 2011

Mutation signatures of carcinogen exposure: genome-wide detection and new opportunities for cancer prevention

artículo científico publicado en 2014

Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance.

artículo científico publicado en 2015

Pathogenesis of cholangiocarcinoma: From genetics to signalling pathways

artículo científico

Primer3--new capabilities and interfaces

artículo científico publicado en 2012

Regionally-specified second trimester fetal neural stem cells reveals differential neurogenic programming

artículo científico publicado en 2014

Regulatory crosstalk between lineage-survival oncogenes KLF5, GATA4 and GATA6 cooperatively promotes gastric cancer development.

artículo científico publicado en 2014

Remarkably little variation in proteins encoded by the Y chromosome's single-copy genes, implying effective purifying selection.

artículo científico publicado en 2009

TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse.

artículo científico publicado en 2015

The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men.

artículo científico publicado en 2001

The draft genome of tropical fruit durian (Durio zibethinus).

artículo científico publicado en 2017

The uric acid transporter SLC2A9 is a direct target gene of the tumor suppressor p53 contributing to antioxidant defense.

artículo científico publicado en 2014

Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis

artículo científico publicado en 2013

Whole-exome sequencing studies of parathyroid carcinomas reveal novel PRUNE2 mutations, distinctive mutational spectra related to APOBEC-catalyzed DNA mutagenesis and mutational enrichment in kinases associated with cell migration and invasion.

artículo científico publicado en 2014

Whole-genome reconstruction and mutational signatures in gastric cancer.

artículo científico publicado en 2012

Wnt proteins synergize to activate β-catenin signaling.

artículo científico publicado en 2017

mTORC1 inhibition restricts inflammation-associated gastrointestinal tumorigenesis in mice

artículo científico publicado en 2013

Lista de obras de Steven G. Rozen

A functional network of gastric-cancer-associated splicing events controlled by dysregulated splicing factors

A physical map of the human Y chromosome

A simple procedure for the analysis of single nucleotide polymorphisms facilitates map-based cloning in Arabidopsis

A tumor-associated splice-isoform of MAP2K7 drives dedifferentiation in MBNL1-low cancers via JNK activation

AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes

Abundant copy-number loss of CYCLOPS and STOP genes in gastric adenocarcinoma

Abundant gene conversion between arms of palindromes in human and ape Y chromosomes.

Alterations in metabolic pathways and networks in Alzheimer's disease

Altered interactions of tryptophan metabolites in first-episode neuroleptic-naive patients with schizophrenia.

Aristolochic acids and their derivatives are widely implicated in liver cancers in Taiwan and throughout Asia

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types

Differential pulmonary transcriptomic profiles in murine lungs infected with low and highly virulent influenza H3N2 viruses reveal dysregulation of TREM1 signaling, cytokines, and chemokines.

Digital phenotyping by consumer wearables identifies sleep-associated markers of cardiovascular disease risk and biological aging

Epigenomic profiling of primary gastric adenocarcinoma reveals super-enhancer heterogeneity

Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes

Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers

Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma.

Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes

Exome sequencing of liver fluke-associated cholangiocarcinoma

Exome-wide Sequencing Shows Low Mutation Rates and Identifies Novel Mutated Genes in Seminomas

Extensive diversity in circadian regulation of plasma lipids and evidence for different circadian metabolic phenotypes in humans

Fanconi anemia gene variants in therapy-related myeloid neoplasms.

Fanconi's anemia in adulthood: chemoradiation-induced bone marrow failure and a novel FANCA mutation identified by targeted deep sequencing

First somatic mutation of E2F1 in a critical DNA binding residue discovered in well-differentiated papillary mesothelioma of the peritoneum.

Genetics of disease

Genome maps 7. The human transcript map. Wall chart

Genome-wide mutational signatures of aristolochic acid and its application as a screening tool

Genomic landscapes of breast fibroepithelial tumors

Genomics and genetics of human and primate y chromosomes.

Has the chimpanzee Y chromosome been sequenced?

HoxC5 and miR-615-3p target newly evolved genomic regions to repress hTERT and inhibit tumorigenesis

Identification of molecular subtypes of gastric cancer with different responses to PI3-kinase inhibitors and 5-fluorouracil

Improving indel detection specificity of the Ion Torrent PGM benchtop sequencer

Intrinsic subtypes of gastric cancer, based on gene expression pattern, predict survival and respond differently to chemotherapy

Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome

Lipidomics identifies a requirement for peroxisomal function during influenza virus replication

Loss of tumor suppressor KDM6A amplifies PRC2-regulated transcriptional repression in bladder cancer and can be targeted through inhibition of EZH2.

MSIseq: Software for Assessing Microsatellite Instability from Catalogs of Somatic Mutations

Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel

Metabolomics in early Alzheimer's disease: identification of altered plasma sphingolipidome using shotgun lipidomics

Mutation signatures of carcinogen exposure: genome-wide detection and new opportunities for cancer prevention

Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance.

Pathogenesis of cholangiocarcinoma: From genetics to signalling pathways

Primer3--new capabilities and interfaces

Regionally-specified second trimester fetal neural stem cells reveals differential neurogenic programming

Regulatory crosstalk between lineage-survival oncogenes KLF5, GATA4 and GATA6 cooperatively promotes gastric cancer development.

Remarkably little variation in proteins encoded by the Y chromosome's single-copy genes, implying effective purifying selection.

TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse.

The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men.

The draft genome of tropical fruit durian (Durio zibethinus).

The uric acid transporter SLC2A9 is a direct target gene of the tumor suppressor p53 contributing to antioxidant defense.

Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis

Whole-exome sequencing studies of parathyroid carcinomas reveal novel PRUNE2 mutations, distinctive mutational spectra related to APOBEC-catalyzed DNA mutagenesis and mutational enrichment in kinases associated with cell migration and invasion.

Whole-genome reconstruction and mutational signatures in gastric cancer.

Wnt proteins synergize to activate β-catenin signaling.

mTORC1 inhibition restricts inflammation-associated gastrointestinal tumorigenesis in mice