This study found that the NuMA protein's microtubule-binding domain is essential for proper spindle orientation and differentiation in keratinocytes, affecting skin and hair development in mice.
34 citations
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July 2020 in “American journal of human genetics” This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
23 citations
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May 2019 in “Expert Opinion on Therapeutic Patents” This review discusses AR-modulating agents developed between 2012 and 2018, highlighting challenges with ligand-binding domain antagonists and proposing nonconventional approaches targeting other domains as promising strategies.
April 2024 in “Journal of pharmacy & pharmacognosy research” This study used in silico analysis to identify 4-[2-(4-nitrophenyl)ethylcarbamoyl]benzenesulfonyl as a potential inhibitor of the EGFR mutant associated with NSCLC, highlighting the need for further in vitro and in vivo validation.
6 citations
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November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.