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

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Research cited in this study

9 / 9 results

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”

Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.

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”

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”

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”

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1 / 1 results

research Keratin 19: Predicted Amino Acid Sequence and Broad Tissue Distribution Suggest it Evolved from Keratinocyte Keratins.

238 citations , May 1989 in “Journal of Investigative Dermatology”

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

We don't know much about this study yet.

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

Related Research

research Keratin 19: Predicted Amino Acid Sequence and Broad Tissue Distribution Suggest it Evolved from Keratinocyte Keratins.