A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1

July 1998 in “ Journal of Investigative Dermatology ”

Hermelita Winter, Christine Labrèze, Valérie Chapalain, J.E. Surlève-Bazeille, Michel Mercier, Michael A. Rogers, Alain Taı̈eb, Jürgen Schweizer

monilethrix Glu402Lys type II hair keratin hHb1 dystrophic alopecia follicular keratosis

Studysummary A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

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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 Hair Follicle Differentiation: Expression, Structure, and Evolutionary Conservation of the Hair Type II Keratin Intermediate Filament Gene Family

65 citations , February 1992 in “Development”

This study characterizes a type II keratin intermediate filament gene family involved in early sheep follicle differentiation, detailing gene expression patterns and sequences in hair cortical cells.

A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1

Research cited in this study

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

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

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

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

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

research Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13

research Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes

research A Gene for Monilethrix Is Closely Linked to the Type II Keratin Gene Cluster at 12q13

research Hair Follicle Differentiation: Expression, Structure, and Evolutionary Conservation of the Hair Type II Keratin Intermediate Filament Gene Family