A Study of Phenotypic Correlation With the Genotypic Status of HTM Regions of KRTHB6 and KRTHB1 Genes in Monilethrix Families of Indian Origin

October 2003 in “ Annales de Génétique ”

Sujay Khandpur, Narendra K. Bairwa, Battini Sriteja Reddy, R. Bamezai

monilethrix KRTHB6 gene KRTHB1 gene HTM motif E413K mutation point mutation genotype phenotype SNPs

Studysummary This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.

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research The Catalog of Human Hair Keratins

272 citations , September 2001 in “Journal of Biological Chemistry”

This study cataloged human type II hair keratins, detailing their expression and differentiation roles in hair follicles and comparing them with type I keratins to explore keratin-pairing principles.

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

32 citations , 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.

research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix

20 citations , December 1999 in “Journal of Investigative Dermatology”

Mutations in the hHb6 gene cause the hair disorder monilethrix.

research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6

29 citations , August 1999 in “Journal of Investigative Dermatology”

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

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.

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

175 citations , August 1997 in “Nature Genetics”