Inherited defects in keratins.
In the years following the initial reports of keratin gene mutations in epidermolysis bullosa simplex, great strides have been made in understanding the basic biology of human keratins and in understanding the etiology and pathogenesis of a number of specific human single gene disorders. A total of 19 human keratin genes is now linked to specific diseases. This article summarizes current knowledge in relation to basic keratin biology, known disease associations, and genotype correlation in this diverse and complex group of conditions.
Irvine
Alan D
AD
Department of Paediatric Dermatology, Our Lady's Hospital for Sick Children, Crumlin Dublin 12, Ireland. alan.irvine@olhsc.ie
D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006801:Humans; D015994:Incidence; D007633:Keratins / Q000235:genetics*; D008297:Male; D009154:Mutation; D011379:Prognosis; D012873:Skin Diseases, Genetic / Q000175:diagnosis* / Q000453:epidemiology
D007633:Keratins