Mutation Detection of Type II Hair Cortex Keratin Gene KRT86 in a Chinese Han Family With Congenital Monilethrix

August 2013 in “ Chinese Medical Journal ”

Zhen-zhen Ye, Nan Xu, Hongshan Zhao, Xuerong Chen, Qinghua Song

KRT86 monilethrix hair cortex keratin autosomal dominant hair disorder mutation hotspot

Studysummary This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.

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research Analysis of Human Hair Basic Keratin 6 Gene Mutation in a Chinese Han Family With Monilethrix

2 citations , April 2008 in “PubMed”

This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.

research Hair Follicle-Specific Keratins And Their Diseases

138 citations , March 2007 in “Experimental cell research”

This review discusses hair keratins and hair follicle-specific epithelial keratins and their association with inherited hair disorders, reporting no new clinical results.

research A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix

79 citations , March 2005 in “Journal of Medical Genetics”

This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.

research Structural Stability of Wild Type and Mutated Alpha-Keratin Fragments: Molecular Dynamics and Free Energy Calculations

40 citations , September 2004 in “Biomacromolecules”

In this study, molecular dynamics simulations indicated that the Glu413Lys mutation in human hair keratin significantly affects the stability of coiled coil structures, whereas Glu413Asp showed no impact on stability.

research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?

13 citations , July 2004 in “Pediatric dermatology”

This case study describes a 9-year-old boy with monilethrix and associated abnormalities, suggesting a new, severe autosomal recessive variant termed "monilethrix syndrome.

research De Novo Mutations in Monilethrix

26 citations , December 2003 in “Experimental Dermatology”

In this study, researchers identified two de novo germline missense mutations in the hair keratins hHb1 and hHb6 in patients with monilethrix whose parents were not clinically affected.

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 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 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.

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”

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

54 citations , January 1995 in “Human Molecular Genetics”

This study mapped monilethrix, a hereditary hair and nail disorder, to the type II keratin cluster on chromosome 12q, marking the first primary human hair disorder localization and implicating defects in "hard" keratins.

research Monilethrix: An Ultrastructural Study

34 citations , December 1984 in “Journal of Cutaneous Pathology”

This study observed that the thinning and structural abnormalities in monilethrix-affected hair occur at the internodes due to possible periodic dysfunction of the hair matrix, particularly in the cortex.