Exclusion of CTSB and FDFT1 as positional and functional candidate genes for keratolytic winter erythema (KWE)

Author:

Hobbs Angela,Aron Shaun,Hartshorne Sian,Hull Peter R.,Ramsay Michèle

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference16 articles.

1. Keratolytic winter erythema or ‘Oudtshoorn skin’: a newly recognized inherited dermatosis prevalent in South Africa;Findlay;S Afr Med J,1977

2. Hull PR. Keratolytic winter erythema (Oudtshoorn disease): clinical, genetic and ultrastructural aspects. PhD thesis, University of the Witwatersrand: Johannesburg; 1986.

3. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation;Giglio;Am J Hum Genet,2002

4. HaCaT keratinocytes secrete lysosomal cysteine proteinases during migration;Buth;Eur J Cell Biol,2004

5. Clinical, genetic and biochemical findings in two siblings with Papillon-Lefevre Syndrome;Cagli;J Periodontol,2005

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2. Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B;Clinical and Experimental Dermatology;2020-09-12

3. Keratolytic Winter Erythema: An Update;Dermatopathology;2019-06-26

4. Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families;The American Journal of Human Genetics;2017-05

5. Inherited Disorders of Cornification;Rook's Textbook of Dermatology, Ninth Edition;2016-10-09

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