3 citations
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February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
October 2009 in “The American Journal of Gastroenterology” Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
August 2005 in “The Journal of Cell Biology” Sgk3 kinase is essential for normal hair growth in mice.
16 citations
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September 1999 in “Journal of Investigative Dermatology Symposium Proceedings” 
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
45 citations
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January 2012 in “The Journal of Steroid Biochemistry and Molecular Biology” Too much AKR1C3 enzyme causes resistance to finasteride by increasing testosterone.
15 citations
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April 2011 in “Biological Chemistry” Cathepsin E is crucial for normal skin cell differentiation and development.
5 citations
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December 1996 in “Biochemical and Biophysical Research Communications” Mouse hair keratins mHa1 and mHb4 can't form a strong network on their own in cells.
37 citations
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August 2014 in “Journal of experimental botany” A gene in Arabidopsis thaliana, AtPRPL1, affects root hair length but not cell wall composition.
25 citations
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June 1998 in “Journal of Investigative Dermatology” Murine cytomegalovirus does not cause alopecia areata in these mice.