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

TLDR Keratins are crucial for hair strength, and mutations in certain keratin genes cause hair disorders.

The document discussed the critical role of keratins in hair structure and disorders. Keratins, which form a network of intermediate filaments, were essential for maintaining cell and tissue structure, with mutations leading to various hair disorders. Specifically, mutations in keratins KRT71, KRT74, KRT81, KRT83, and KRT86 were linked to conditions like woolly hair and monilethrix, characterized by fragile, beaded hair. The study highlighted the importance of the hair cortex in providing hair strength and the role of genetic mutations in disrupting this structure. Advances in genetic techniques had expanded the understanding of these disorders, although the variability in hair phenotypes and the beaded appearance in monilethrix remained unclear. The research underscored the need for further analysis of hair proteins to better understand hair strength and structure.

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Research cited in this study

16 / 16 results

research Novel KRT83 and KRT86 Mutations Associated with Monilethrix

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New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.

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research Monilethrix

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A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.

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

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A new mutation in the KRT86 gene causes a hair disorder with variable expression.

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

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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”

Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.

research Endocrine Controls of Keratin Expression

54 citations , March 2009 in “BioEssays”

Hormones control keratin production in skin and hair.

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”

Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.

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”

A mutation in the KRTHB5 gene causes hair and nail issues.

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

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

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

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

40 citations , September 2004 in “Biomacromolecules”

The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.

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”

A new mutation in the hHb1 keratin gene is linked to the 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

21 citations , September 1997 in “British Journal of Dermatology”

Monilethrix is linked to the type II keratin gene on chromosome 12q13.

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

175 citations , August 1997 in “Nature Genetics”

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research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

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Keratins: The Hair Shaft's Backbone Revealed

Research cited in this study

research Novel KRT83 and KRT86 Mutations Associated with Monilethrix

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

research Monilethrix

research The Proteomic Profile of Hair Damage

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

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

research Monilethrix in Pattern Distribution in Siblings: Diagnosis by Trichoscopy

research Endocrine Controls of Keratin Expression

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

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

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

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

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

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

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