A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients

November 1998 in “ Journal of Investigative Dermatology ”

Bernhard Korge, Eugene Healy, Colin S. Munro, Mark Birch-Machin, Susan C. Holmes, S. DARLINGTON, Henning Hamm, Andrew G. Messenger, Jonathan Rees, Heiko Traupe, Claudia Pünter

monilethrix human hair basic keratin 6 hHb6 2B domain keratin gene type II keratin E413K mutation lysine glutamic acid sex hormones

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Studysummary A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

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Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle

research Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle

32 citations , February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study reports the cloning and sequencing of two type II hair-specific keratin genes, ghHb1 and ghHb6, located on chromosome 12q13, which are expressed during hair growth.

research A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix

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.

research Mapping of Monilethrix to the Type II Keratin Gene Cluster at Chromosome 12q13 in Three New Families, Including One with Variable Expressivity

21 citations , September 1997 in “British Journal of Dermatology”

This study found that monilethrix in three unrelated European families is linked to the type II keratin gene cluster on chromosome 12q13, with no evidence of defects in type I keratins.

research Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix

175 citations , August 1997 in “Nature Genetics”

research Sequences and Differential Expression of Three Novel Human Type-II Hair Keratins

61 citations , February 1997 in “Differentiation”

Hair differentiation starts earlier than thought, involving multiple type-II keratins.

research Evidence for Genetic Heterogeneity in Monilethrix

30 citations , December 1996 in “Journal of Investigative Dermatology”