29 citations
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August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
47 citations
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July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
32 citations
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January 2000 in “Human Heredity” This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.
40 citations
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September 2004 in “Biomacromolecules” In this study, molecular dynamics simulations indicated that the Glu413Lys mutation in human hair keratin significantly affects the stability of coiled coil structures, whereas Glu413Asp showed no impact on stability.
18 citations
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January 2015 in “Experimental Dermatology” This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.