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Lista de obras de David P. Kelsell

A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).

artículo científico publicado en 1998

A case of erythrokeratoderma variabilis without mutations in connexin 31.

artículo científico publicado en 2000

A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro

artículo científico publicado en 2007

A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome

article

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein

artículo científico publicado en 2002

A novel ABCA12 mutation underlying a case of Harlequin ichthyosis

scientific article published on 01 July 2006

A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss

artículo científico publicado en 2008

A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis.

artículo científico publicado en 2015

A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.

artículo científico publicado en 2007

A profile of lipid dysregulation in harlequin ichthyosis.

artículo científico publicado en 2017

A severe collodion phenotype in the newborn period associated with a homozygous missense mutation inALOX12B

scientific article published on 18 May 2015

AB009. Targeting the stratification of neuroblastoma: clinical and biological challenges.

artículo científico publicado en 2015

ABCA12 is the major harlequin ichthyosis gene

artículo científico publicado en 2006

ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phosholipase C γ1 and protein kinase C pathways

artículo científico publicado en 2016

Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T.

artículo científico publicado en 2004

Absence of BRAF gene mutations in uveal melanomas in contrast to cutaneous melanomas.

scientific article published on May 2003

Acral peeling skin syndrome associated with a novel CSTA gene mutation.

artículo científico publicado en 2015

Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis

artículo científico publicado en 2007

An XmnI RFLP detected with a probe for the CYP2E gene locus on chromosome 10.

artículo científico publicado en 1990

An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.

artículo científico publicado en 2003

An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium.

artículo científico publicado en 1995

Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association

artículo científico publicado en 2011

Assignment of eight human genomic DNA sequences detecting high frequency restriction fragment length polymorphisms

artículo científico publicado en 1991

Association between loss of heterozygosity of BRCA1 and BRCA2 and morphological attributes of sporadic breast cancer

artículo científico publicado en 2000

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

artículo científico publicado en 2017

Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP

artículo científico publicado en 2016

Cell cycle- and cancer-associated gene networks activated by Dsg2: evidence of cystatin A deregulation and a potential role in cell-cell adhesion

artículo científico publicado en 2015

Cell-cell connectivity: desmosomes and disease.

artículo científico publicado en 2011

Cellular mechanisms of mutant connexins in skin disease and hearing loss

artículo científico publicado en 2003

Characterisation and validation of insertions and deletions in 173 patient exomes

artículo científico publicado en 2012

Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus

article

Clinical and genetic heterogeneity of erythrokeratoderma variabilis

artículo científico publicado en 2005

Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome

artículo científico publicado en 2005

Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree

artículo científico publicado en 2020

Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC)

artículo científico publicado en 1996

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

artículo científico publicado en 2000

Combined loss of BRCA1/BRCA2 in grade 3 breast carcinomas

artículo científico publicado en 1996

Connexin 26 expression and mutation analysis in epidermal disease

artículo científico publicado en 2001

Connexin 26 facilitates gastrointestinal bacterial infection in vitro.

artículo científico publicado en 2012

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

scientific journal article

Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis

artículo científico publicado en 2005

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family

artículo científico publicado en 2000

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family

artículo científico publicado en 2000

Connexin mutations in deafness

artículo científico publicado en 1998

Connexin mutations in human disease

artículo científico publicado en 2004

Connexin mutations in skin disease and hearing loss

artículo científico publicado en 2001

Connexins in epidermal homeostasis and skin disease.

artículo científico

Consortium study on 1280 breast carcinomas: allelic loss on chromosome 17 targets subregions associated with family history and clinical parameters

artículo científico publicado en 1998

Corrigendum: ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phospholipase C γ1 and protein kinase C pathways.

artículo científico publicado en 2017

Cover image: Unpeeling the layers of harlequin ichthyosis

Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α

artículo científico publicado en 2014

Current insights into protease dynamics in human epithelial disease and barrier function.

artículo científico publicado en 2013

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation

artículo científico publicado en 2016

Defective channels lead to an impaired skin barrier

artículo científico publicado en 2014

Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations

artículo científico publicado en 2002

Deletions in the cytoplasmic domain of iRhom1 and iRhom2 promote shedding of the TNF receptor by the protease ADAM17.

artículo científico publicado en 2015

Development of a panel of monochromosomal somatic cell hybrids for rapid gene mapping.

artículo científico

Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography

artículo científico publicado en 2002

Discovery in genetic skin disease: the impact of high throughput genetic technologies

artículo científico

Double jeopardy: Ras and CDK4 co-expression in skin cancer

scientific article published on 01 December 2002

EKV mutant connexin 31 associated cell death is mediated by ER stress

artículo científico publicado en 2009

Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin

artículo científico publicado en 2006

Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): the integration of genetic and physical maps of the TOC region on 17q25.

artículo científico publicado en 1999

Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia.

artículo científico publicado en 1999

Evolution of Electrocardiographic and Structural Features Over 3 Decades in Arrhythmogenic Cardiomyopathy.

artículo científico publicado en 2015

Exoming into rare skin disease: EGFR deficiency.

artículo científico publicado en 2014

Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population.

artículo científico publicado en 2009

Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratoderma to chromosome 12q11-q13: exclusion of the mapped type II keratins

scientific article published on 01 October 1999

Functional studies of human skin disease- and deafness-associated connexin 30 mutations

artículo científico publicado en 2002

Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival.

artículo científico publicado en 2004

Gene expression analysis of EpiDerm following exposure to SLS using cDNA microarrays

artículo científico publicado en 2001

Gene mapping using somatic cell hybrids

artículo científico publicado en 1997

Genetic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1

artículo científico publicado en 1993

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

artículo científico publicado en 2001

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency

artículo científico publicado en 2003

Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity

artículo científico publicado en 1995

Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event.

artículo científico publicado en 2005

Genomic Landscape of Esophageal Squamous Cell Carcinoma in a Japanese Population.

artículo científico publicado en 2016

Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability

artículo científico publicado en 2003

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

artículo científico publicado en 2002

Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study

artículo científico publicado en 1996

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases

artículo científico publicado en 2011

Hereditary 'white nails': a genetic and structural study

artículo científico publicado en 2004

High allele loss rates at 17q12-q21 in breast and ovarian tumors from BRCAl-linked families. The Breast Cancer Linkage Consortium

scientific article published on 01 July 1995

Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children

artículo científico publicado en 2010

Human diseases: clues to cracking the connexin code?

scientific journal article

Human elastase 1: evidence for expression in the skin and the identification of a frequent frameshift polymorphism

artículo científico publicado en 2000

IRHOM2: A REGULATOR OF PALMOPLANTAR BIOLOGY, INFLAMMATION AND VIRAL SUSCEPTIBILITY

artículo científico publicado en 2020

Identification and characterization of DSPIa, a novel isoform of human desmoplakin

artículo científico publicado en 2010

Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis

artículo científico publicado en 1999

Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy

scientific article published on 01 July 2000

Inflammatory skin and bowel disease linked to ADAM17 deletion

artículo científico publicado en 2011

Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes.

artículo científico

Intermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength

artículo científico publicado en 2002

Junctions in human health and inherited disease.

artículo científico publicado en 2015

Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.

artículo científico publicado en 2007

Key functions for gap junctions in skin and hearing

artículo científico

Lack of mutations within ST7 gene in tumour-derived cell lines and primary epithelial tumours

artículo científico publicado en 2002

Linkage analysis of early-onset breast and ovarian cancer families, with markers on the long arm of chromosome 17.

artículo científico publicado en 1993

Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas

artículo científico publicado en 1996

Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13

scientific article published on 01 April 1996

Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.

artículo científico publicado en 2001

Localization of a second NM23 gene, NME2, to chromosome 17q21-q22

artículo científico publicado en 1993

Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.

artículo científico publicado en 2000

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

artículo científico publicado en 2006

Loss of function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype

artículo científico publicado en 2019

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions

scientific journal article

Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

artículo científico publicado en 2015

Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene.

artículo científico publicado en 2011

Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer

artículo científico publicado en 2005

Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31

artículo científico publicado en 2001

Mutational analysis of selected genes in the TGFbeta, Wnt, pRb, and p53 pathways in primary uveal melanoma

article

Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families

artículo científico publicado en 1997

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. ⬇️

artículo científico publicado en 2005

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.

artículo científico publicado en 2013

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion

artículo científico publicado en 2011

Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia

artículo científico publicado en 2015

Mutations in GJB6 cause hidrotic ectodermal dysplasia

artículo científico publicado en 2000

Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia

scientific journal article

N-cadherin gene maps to human chromosome 18 and is not linked to the E-cadherin gene

artículo científico publicado en 1990

N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma

artículo científico publicado en 1999

New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report

artículo científico publicado en 2016

Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis.

artículo científico

Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis

scientific article published on 01 January 2011

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis

artículo científico publicado en 2008

Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene

artículo científico publicado en 2004

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families

artículo científico publicado en 1995

Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds

artículo científico publicado en 2001

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

artículo científico publicado en 1996

Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis ⬇️

artículo científico publicado en 2009

Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness.

artículo científico publicado en 2006

Punctate palmoplantar keratoderma and malignancy in a four-generation family

scientific article published on 01 April 1996

Quantitative fluorescence resonance energy transfer (FRET) measurement with acceptor photobleaching and spectral unmixing

artículo científico publicado en 2004

R-spondins in cutaneous biology: nails and cancer.

artículo científico publicado en 2007

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome

artículo científico publicado en 2012

Recessive mutation in FAM83G associated with palmoplantar keratoderma and exuberant scalp hair

artículo científico publicado en 2017

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

artículo científico publicado en 2000

Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene

article

Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families

artículo científico publicado en 2001

Reduced E-cadherin expression correlates with disease progression in Paget's disease of the vulva but not Paget's disease of the breast.

artículo científico

Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16.

artículo científico publicado en 2017

Rhomboid proteins: a role in keratinocyte proliferation and cancer.

artículo científico

Role for WNT16B in human epidermal keratinocyte proliferation and differentiation

artículo científico publicado en 2007

SNPing at the Epidermal Barrier

artículo científico publicado en 2011

SPINK5: both rare and common skin disease

artículo científico publicado en 2002

Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830).

artículo científico publicado en 2005

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma

artículo científico publicado en 2001

Spotting prostate cancer.

artículo científico publicado en 2001

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.

artículo científico publicado en 2012

The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes

artículo científico publicado en 2012

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia

artículo científico publicado en 2006

The palmoplantar keratodermas: much more than palms and soles.

artículo científico publicado en 1999

Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism

artículo científico publicado en 1996

Tissue restricted expression of two human Frzbs in preadipocytes and pancreas

artículo científico publicado en 1998

Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth

artículo científico publicado en 2006

Towards a mutant map of the mouse--new models of neurological, behavioural, deafness, bone, renal and blood disorders

artículo científico publicado en 2004

Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms

artículo científico publicado en 2015

Whats new in genodermatoses?

artículo científico publicado en 2001

Wnt-16a, a novel Wnt-16 isoform, which shows differential expression in adult human tissues

artículo científico publicado en 2000

iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)-induced sudden death

artículo científico publicado en 2015

iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function

artículo científico publicado en 2014

p16INK4a and p14ARF tumor suppressor genes are commonly inactivated in cutaneous squamous cell carcinoma.

artículo científico publicado en 2004

p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response.

artículo científico publicado en 2018

p63 mediates an apoptotic response to pharmacological and disease-related ER stress in the developing epidermis

artículo científico publicado en 2011

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