A Heterozygous Frameshift Mutation in the V1 Domain of Keratin 5 in a Family with Dowling–Degos Disease
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference13 articles.
1. A keratin 14 “knockout” mutation in recessive epidermolysis bullosa simplex resulting in less severe disease;Batta;Br J Dermatol,2000
2. Loss-of-function mutations in the keratin 5 gene lead to Dowling–Degos disease;Betz;Am J Hum Genet,2006
3. Genetics and genodermatoses;Harper,2004
4. Biogenesis of pigment granules: a sensitive way to regulate melanocyte function;Hearing;J Dermatol Sci,2005
5. Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation;Horiguchi;J Invest Dermatol,2005
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1. KRT5 mutation regulate melanin metabolism through notch signalling pathway between keratinocytes and melanocytes;Experimental Dermatology;2023-03-04
2. An acantholytic variant of dowling degos disease;IP Indian Journal of Clinical and Experimental Dermatology;2022-11-15
3. Genetic Abnormalities, Melanosomal Transfer, and Degradation inside Keratinocytes Affect Skin Pigmentation;Keratinocyte Biology - Structure and Function in the Epidermis;2022-09-28
4. Comedonal Lesions on the Trunk and Proximal Extremities: Answer;The American Journal of Dermatopathology;2021-04
5. Epidermal keratin 5 expression and distribution is under dermal influence;Pigment Cell & Melanoma Research;2019-11-26
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