10 citations
,
May 2012 in “PloS one” This study found that non-pigmented hair follicles have significantly lower expression of nucleotide excision repair genes, which may be associated with reduced melanin production capacity in these follicles.
5 citations
,
July 1996 in “Journal of Cutaneous Medicine and Surgery” This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.
9 citations
,
February 2019 in “BMC cancer” This study found that M30 may protect against cyclophosphamide-induced alopecia in mice by enhancing hair growth and preventing abnormal hair, suggesting its potential as a treatment.
May 2022 in “Experimental dermatology” In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.
April 2012 in “Neuropediatrics” This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.