100 citations
,
November 1997 in “Human Genetics” In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
667 citations
,
May 2008 in “Genes & Development” This review discusses the biochemical and biological functions of histone demethylases and their potential involvement in human diseases, including cancer, but reports no new findings.
18 citations
,
October 2018 in “Nutrients” This study found that Annurca apple polyphenolic extracts reprogram hair follicle metabolism in mice, enhancing mitochondrial activity and keratin production while inhibiting some metabolic pathways.