Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6

January 2000 in “ Human Heredity ”

Liran Horev, Benjamin Gläser, A Metzker, Dan Ben‐Amitai, Daniel Vardy, Abraham Zlotogorski

Monilethrix autosomal dominant hair disorder keratin hHb6 helix termination motif Glu413Lys Glu413Asp Glu402Lys

Studysummary 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.

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

34 citations , November 1998 in “Journal of Investigative Dermatology”

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

research Monilethrix: A Keratin HHb6 Mutation Is Co-Dominant With Variable Expression

26 citations , October 1998 in “Experimental Dermatology”

This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.

research Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes

74 citations , October 1998 in “Journal of biological chemistry/The Journal of biological chemistry”

This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.

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

47 citations , July 1998 in “Journal of Investigative Dermatology”

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

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.

Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6

Research cited in this study

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

research Monilethrix: A Keratin HHb6 Mutation Is Co-Dominant With Variable Expression

research Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes

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

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 Neurotrichosis: Hair-Shaft Abnormalities Associated With Neurological Diseases