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List of works by 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).

scientific article

A case of erythrokeratoderma variabilis without mutations in connexin 31.

scientific article published in December 2000

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

scientific article

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

scientific article (publication date: 15 May 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

scientific article

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

scientific article

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

scientific article

A profile of lipid dysregulation in harlequin ichthyosis.

scientific article

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.

scientific article published in September 2015

ABCA12 is the major harlequin ichthyosis gene

scientific article

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

scientific article published on 22 December 2016

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

scientific article published on 19 March 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.

scientific article published on 18 December 2015

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

scientific article

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

scientific article published on May 1990

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

scientific article published on July 2003

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

scientific article published on January 1995

Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association

scientific article

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

scientific article

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

scientific article published on 01 October 2000

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

scientific article published on 31 July 2017

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

scientific article published on 25 July 2016

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

scientific article

Cell-cell connectivity: desmosomes and disease.

scientific article

Cellular mechanisms of mutant connexins in skin disease and hearing loss

scientific article published in July 2003

Characterisation and validation of insertions and deletions in 173 patient exomes

scientific article

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

scientific article

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

scientific article published on 01 February 2005

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

scientific article published on 20 April 2020

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

scientific article published on 01 June 1996

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

scientific article

Combined loss of BRCA1/BRCA2 in grade 3 breast carcinomas

scientific article published in The Lancet

Connexin 26 expression and mutation analysis in epidermal disease

scientific article published in January 2001

Connexin 26 facilitates gastrointestinal bacterial infection in vitro.

scientific article

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

scientific journal article

Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis

scientific article published on 15 March 2005

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

scientific article published in June 2000

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

scientific article (publication date: February 2000)

Connexin mutations in deafness

scientific article published in August 1998

Connexin mutations in human disease

scientific article published on 01 October 2004

Connexin mutations in skin disease and hearing loss

scientific article

Connexins in epidermal homeostasis and skin disease.

scientific article published on 10 September 2011

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

scientific article published on 01 March 1998

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

scientific article published on 23 January 2017

Cover image: Unpeeling the layers of harlequin ichthyosis

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

scientific article

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

scientific article published in February 2013

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

scientific article published on 22 June 2016

Defective channels lead to an impaired skin barrier

scientific article published on September 2014

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

scientific article (publication date: 15 August 2002)

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

scientific article published on 3 November 2015

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

scientific article published on April 1995

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

scientific article

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

scientific article published on 04 August 2014

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

scientific article published on 14 September 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

scientific article published on 20 April 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.

scientific article

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

scientific article

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

scientific article

Exoming into rare skin disease: EGFR deficiency.

scientific article published in October 2014

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

scientific article published on 9 March 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

scientific article (publication date: 15 November 2002)

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

scientific article published in July 2004

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

scientific article published in August 2001

Gene mapping using somatic cell hybrids

scientific article published on 01 January 1997

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

scientific article published on 01 November 1993

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

scientific article

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

scientific article published on 01 June 2003

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

scientific article published on 01 June 1995

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

scientific article published on October 2005

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

scientific article

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

scientific article (publication date: December 2003)

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

scientific article

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

scientific article published in February 1996

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

scientific article

Hereditary 'white nails': a genetic and structural study

scientific article

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

scientific article

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

scientific article (publication date: 2000)

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

scientific article published on 17 October 2020

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

scientific article

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

scientific article (publication date: December 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

scientific article published in October 2011

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

scientific article published on 16 April 2014

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

scientific article

Junctions in human health and inherited disease.

scientific article published on 11 April 2015

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

scientific article published on 23 March 2007

Key functions for gap junctions in skin and hearing

scientific article published on September 2011

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

scientific article

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

scientific article

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

scientific article published on June 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.

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 02 January 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.

scientific article

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

scientific article published on 21 December 2011

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

scientific article published in October 2005

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

scientific article published on 01 October 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

scientific article published on 01 February 1997

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Mutations in GJB6 cause hidrotic ectodermal dysplasia

scientific article (publication date: October 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

scientific article

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

scientific article (publication date: June 1999)

New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report

scientific article published on 2 June 2016

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

scientific article published on 03 December 2014

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

scientific article

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

scientific article published on 9 March 2004

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

scientific article

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

scientific article published on 01 April 2001

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

scientific article

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

scientific article

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

scholarly article

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

scientific article published on August 2004

R-spondins in cutaneous biology: nails and cancer.

scientific article published on 9 April 2007

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

scientific article

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

scientific article published on 11 November 2017

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

scientific article (publication date: November 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

scientific article published in August 2001

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

scientific article published on 09 May 2008

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

scientific article published on 27 January 2017

Rhomboid proteins: a role in keratinocyte proliferation and cancer.

scientific article published on 21 December 2012

Role for WNT16B in human epidermal keratinocyte proliferation and differentiation

scientific article

SNPing at the Epidermal Barrier

scientific article published on 01 August 2011

SPINK5: both rare and common skin disease

scientific article (publication date: 2002)

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

scientific article published in November 2005

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

scientific article published on 01 March 2001

Spotting prostate cancer.

scientific article

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

scientific article published on 20 September 2012

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

scientific article

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

scientific article

The palmoplantar keratodermas: much more than palms and soles.

scientific article

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

scientific article

Tissue restricted expression of two human Frzbs in preadipocytes and pancreas

scientific article

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

scientific article

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

scientific article published on 01 September 2004

Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms

scientific article

Whats new in genodermatoses?

scientific article published on 01 March 2001

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 9 March 2018

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

scientific article published on September 2011

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