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Genetics

D-Index
71
Citations
23054
World Ranking
2166
National Ranking
268

Overview

David P. Kelsell is affiliated with Queen Mary University of London in the United Kingdom. Their research primarily spans the fields of Medicine and Biochemistry, Genetics and Molecular Biology, with a significant focus on Molecular Biology, Dermatology, Cardiology and Cardiovascular Medicine, Immunology and Allergy, and Cell Biology.

The scientist has contributed extensively to topics such as Dermatology and Skin Diseases, Allergic Rhinitis and Sensitization, Gastroesophageal reflux and treatments, Cardiovascular Effects of Exercise, Sports injuries and prevention, Skin and Cellular Biology Research, and Cytokine Signaling Pathways and Interactions.

Recent publications include:

  • 3D model of harlequin ichthyosis reveals inflammatory therapeutic targets, 2020, Journal of Clinical Investigation
  • Early inflammation precedes cardiac fibrosis and heart failure in desmoglein 2 murine model of arrhythmogenic cardiomyopathy, 2021, Cell and Tissue Research
  • Identification of novel immune cell signature in gastroesophageal reflux disease: altered mucosal mast cells and dendritic cell profile, 2023, Frontiers in Immunology
  • Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches, 2023, Journal of Investigative Dermatology
  • iRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility, 2020, Journal of Investigative Dermatology

Frequent co-authors of David P. Kelsell include:

  • Edel A. O'Toole
  • Diana C. Blaydon
  • Stephen Murtough
  • Catherine M. Webb
  • Bjorn Thomas

Their publications have appeared most often in the following venues:

  • Journal of Investigative Dermatology
  • British Journal of Dermatology
  • Cell and Tissue Research
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Gastro Hep Advances

Best Publications

  • Identification of the breast cancer susceptibility gene BRCA2

    Wooster R;Bignell G;Lancaster J;Swift S

  • Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

    Kelsell Dp;Dunlop J;Stevens Hp;Lench Nj

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

    Tomlinson Ip;Alam Na;Rowan Aj;Barclay E

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

    Elizabeth E. Norgett;Sarah J. Hatsell;Luis Carvajal-Huerta;Juan-Carlos Ruiz Cabezas

  • Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

    F.J.D. Smith;R.A.J. Eady;I.M. Leigh;J.R. McMillan

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

    David P. Kelsell;Elizabeth E. Norgett;Harriet Unsworth;Muy Teck Teh

  • Thiopurine Methyltransferase Pharmacogenetics: Human Gene Cloning and Characterization of a Common Polymorphism

    Carol Szumlanski;Diane Otterness;Chengtao Her;Daniel Lee

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

    N A Alam;A J Rowan;N C Wortham;P J Pollard

  • Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion

    Diana C. Blaydon;Paolo Biancheri;Wei Li Di;Vincent Plagnol

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

    Genta Sawada;Genta Sawada;Atsushi Niida;Ryutaro Uchi;Hidenari Hirata

  • Mutations in GJB6 cause hidrotic ectodermal dysplasia.

    Jérôme Lamartine;Guilherme Munhoz Essenfelder;Zoha Kibar;Isabelle Lanneluc

  • N-Terminal Deletion in a Desmosomal Cadherin Causes the Autosomal Dominant Skin Disease Striate Palmoplantar Keratoderma

    Lisa Rickman;Danijela Šimrak;Howard P. Stevens;Debbie M. Hunt

  • Clinical Features of Multiple Cutaneous and Uterine Leiomyomatosis An Underdiagnosed Tumor Syndrome

    N. Afrina Alam;Ella Barclay;Andrew J. Rowan;Jonathan P. Tyrer

  • 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.

    Howard P. Stevens;David P. Kelsell;Stephen P. Bryant;D. Timothy Bishop

  • Harlequin Ichthyosis: A Review of Clinical and Molecular Findings in 45 Cases

    Shefali Rajpopat;Celia Moss;Jemima Mellerio;Anders Vahlquist

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

    Diana C. Blaydon;Sarah L. Etheridge;Janet M. Risk;Hans-Christian Hennies

  • Cell-cell connectivity: desmosomes and disease.

    Matthew A Brooke;Daniela Nitoiu;David P Kelsell

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

    Diana C Blaydon;Yoshiyuki Ishii;Edel A O'Toole;Harriet C Unsworth

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

    Victoria L. Brown;Catherine A. Harwood;Tim Crook;James G. Cronin

  • Erratum: Identification of the breast cancer susceptibility gene BRCA2

    Richard Wooster;Graham Bignell;Jonathan Lancaster;Sally Swift

Frequent Co-Authors

Irene M. Leigh
Irene M. Leigh University of Dundee
Edel A. O'Toole
Edel A. O'Toole Queen Mary University of London
Vincent Plagnol
Vincent Plagnol University College London
Charles A. Mein
Charles A. Mein Queen Mary University of London
Nigel K. Spurr
Nigel K. Spurr GlaxoSmithKline (United Kingdom)
John A. McGrath
John A. McGrath King's College London
Michael R. Barnes
Michael R. Barnes Queen Mary University of London
D. Timothy Bishop
D. Timothy Bishop University of Leeds
Robin A.J. Eady
Robin A.J. Eady St Thomas' Hospital
Dominic Abrams
Dominic Abrams University of Kent

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