Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease-Reference-Cited by-同舟云学术

Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease

Published:2024-01 Issue:1 Volume:144 Page:181-184
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Kumar Sheetal,Borisov Oleg,Maj Carlo,Ralser Damian J.,Humbatova Aytaj,Hanneken Sandra,Schmieder Astrid,Groß Janina,Maintz Laura,Heineke Andre,Knuever Jana,Fagerberg Christina,Parmentier Laurent,Anemüller Waltraud,Oji Vinzenz,Tantcheva-Poór Iliana,Fölster-Holst Regina,Wenzel Joerg,Krawitz Peter M.,Frank Jorge,Betz Regina C.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference17 articles.

1. A global reference for human genetic variation;Auton;Nature,2015

2. Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura;Basmanav;J Invest Dermatol,2015

3. Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease;Basmanav;Am J Hum Genet,2014

4. Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease;Betz;Am J Hum Genet,2006

5. Dermatose pigmentaire ŕeticulée des plis (discussion de l'acanthosis nigricans) [Reticulated pigmentary dermatosis of the folds: relation to acanthosis nigricans];Degos;Ann Dermatol Syphiligr (Paris),1954

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