Keratins: The Hair Shaft's Backbone Revealed

February 2015 in “ Experimental Dermatology ”

Yuval Ramot, Abraham Zlotogorski

keratins intermediate filaments KRT81 KRT83 KRT86 monilethrix hair cortex

Studysummary This report expands the known genetic mutations linked to monilethrix by identifying new patients with KRT83 mutations, confirming its role as a causative gene for this hair disorder.

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research Novel KRT83 and KRT86 Mutations Associated with Monilethrix

18 citations , January 2015 in “Experimental Dermatology”

This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.

research Harnessing Neuroendocrine Controls of Keratin Expression: A New Therapeutic Strategy for Skin Diseases?

26 citations , May 2014 in “BioEssays”

This review discusses how neuroendocrine pathways influence keratin regulation in human skin and hair follicles and suggests these pathways as potential targets for new treatments of skin disorders, but reports no clinical results.

research Monilethrix

6 citations , August 2012 in “The Journal of Pediatrics”

This case report describes a 12-year-old girl diagnosed with monilethrix, characterized by fragile, beaded hair shafts, with no effective treatment currently available.

research A Novel Monilethrix Mutation in Coil 2A of KRT86 Causing Autosomal Dominant Monilethrix with Incomplete Penetrance

15 citations , June 2012 in “British Journal of Dermatology”

This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.

research The Proteomic Profile of Hair Damage

20 citations , June 2012 in “British Journal of Dermatology”

This study discusses the proteomic profile associated with hair damage but does not report new experimental findings.

research Keratin Gene Mutations in Disorders of Human Skin and Its Appendages

185 citations , December 2010 in “Archives of Biochemistry and Biophysics”

Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.

research Monilethrix in Pattern Distribution in Siblings: Diagnosis by Trichoscopy

21 citations , January 2010 in “International journal of trichology”

This report on two Indian male siblings with monilethrix highlights trichoscopy's role in diagnosing this condition, which can be complicated by early-onset androgenetic alopecia.

research Endocrine Controls of Keratin Expression

54 citations , March 2009 in “BioEssays”

This review discusses the complex hormonal control of keratin expression in skin and its potential implications for treating skin and hair disorders, but reports no new clinical results.

research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis

97 citations , March 2006 in “Journal of Investigative Dermatology”

This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.

research A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type

60 citations , March 2006 in “Journal of Medical Genetics”

This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.

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 An Unusual Ala12Thr Polymorphism in the 1A Alpha-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae

88 citations , March 2004 in “Journal of Investigative Dermatology”

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

175 citations , August 1997 in “Nature Genetics”