A Null Mutation in the Cystatin M/E Gene of Ichq Mice Causes Juvenile Lethality and Defects in Epidermal Cornification
October 2002
in “
Human molecular genetics online/Human molecular genetics
”
cystatin M/E Cst6 gene epidermal cornification hyperplastic epidermis hyperkeratotic epidermis abnormal hair follicles stratum granulosum infundibulum of hair follicles type 2 harlequin ichthyosis cystatin M/E Cst6 gene cornification hyperplastic skin hyperkeratotic skin abnormal hair follicles stratum granulosum hair follicle infundibulum harlequin ichthyosis
Studysummary This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.
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