54 citations
,
January 1995 in “Human Molecular Genetics”
This study mapped monilethrix, a hereditary hair and nail disorder, to the typeIIkeratin cluster on chromosome 12q, marking the first primary human hair disorder localization and implicating defects in "hard" keratins.
21 citations
,
September 1997 in “British Journal of Dermatology”
This study found that monilethrix in three unrelated European families is linked to the typeIIkeratingene cluster on chromosome 12q13, with no evidence of defects in type I keratins.
This study identifies six novel keratingenes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratingenes in the domain have been characterized transcriptionally.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology”
This review discusses the complexity and genetic organization of human keratingene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.