research The Association Between rs2476601 Polymorphism in PTPN22 Gene and Risk of Alopecia Areata
The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
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research Clinical and Genetic Aspects of Alopecia Areata: A Cutting Edge Review
Hair loss from Alopecia Areata is caused by both genes and environment, with several treatments available but challenges in cost and relapse remain.
research Lymphocytes, Neuropeptides, And Genes Involved In Alopecia Areata
Alopecia areata is an autoimmune disease where T cells attack hair follicles.
research PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene
This study reports a novel case of PLACK syndrome in an 11-year-old boy, associated with alopecia areata and a new homozygous mutation in the CAST gene. PLACK syndrome is a rare autosomal recessive condition characterized by skin peeling, blisters, and other dermatological symptoms. The identified mutation in exon 18 of the CAST gene leads to a frameshift and premature protein truncation, affecting calpastatin, which regulates calpain activity. This mutation may contribute to increased calpain activity, impairing skin adhesion and potentially linking to autoimmune conditions like alopecia areata. The study suggests that individuals with PLACK syndrome may be predisposed to autoimmune diseases if there is an associated PTPN22 polymorphism, although further research is needed to explore the direct effects of CAST gene mutations on immune responses.
research Transient Efficacy of Tofacitinib in Alopecia Areata Universalis
Tofacitinib temporarily regrew hair in a man with alopecia, but its effects didn't last.
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