47 citations
,
December 2019 in “Frontiers in immunology” This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
1 citations
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August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.
5 citations
,
February 2022 in “Seminars in cell & developmental biology” This review discusses the complexities of hidradenitis suppurativa pathogenesis, highlighting issues with Notch signaling, immune dysregulation, and the role of keratinocytes and ECM, but reports no new clinical results.
3 citations
,
April 2019 in “Clinical Therapeutics” This study identified 19 genes targeted by 29 potential drugs for topical treatment of chemotherapy-induced alopecia, suggesting avenues for drug repositioning in pharmaceutical research.
23 citations
,
February 2015 in “International Journal of Molecular Sciences” This study found that colchicine treatment significantly reduced hair fiber elongation in cultured hair follicles and altered protein expression and activity in dermal papilla cells, suggesting a role for the ubiquitin-proteasome system in its effects.
