4 citations
,
July 2022 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a novel homozygous mutation in the 5'-UTR of the POMC gene, suggesting a new molecular mechanism for the syndrome of adrenal insufficiency, obesity, and red hair.
3 citations
,
February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
24 citations
,
December 2016 in “Stem Cell Research & Therapy” This study found that P311 triggers transdifferentiation of epidermal stem cells into myofibroblast-like cells via TGFβ1/Smad signaling during wound healing.
11 citations
,
April 2019 in “Bioscience Reports” In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.
12 citations
,
December 2013 in “Immunological Investigations” This study suggests that the 5’UTR SNP rs6457452 of HSPA1B may be associated with the onset of Alopecia Areata and reduced susceptibility in the Korean population.