A Missense Mutation Within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis

September 2017 in “ Journal of Investigative Dermatology ”

Xia Yu, Chen Fu-yin, Cheng Ni, Guolong Zhang, Luyao Zheng, Jia Zhang, Chengrang Li, Aileen Sandilands, Zhirong Yao, Ming Li

KRT25 keratin intermediate filament p.Leu376Arg autosomal dominant woolly hair hypotrichosis cytoskeleton K25 K71 keratin

Studysummary A mutation in the KRT25 gene causes woolly hair and hair loss.

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research Autosomal Recessive Hypotrichosis With Woolly Hair Caused By A Mutation In The Keratin 25 Gene Expressed In Hair Follicles

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research Twelve-Point Scale Grading System of Scanning Electron Microscopic Examination to Investigate Subtle Changes in Damaged Hair Surface

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research Correction of Hair Shaft Defects Through Allele-Specific Silencing of Mutant Krt75

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research A Homozygous Missense Variant in Type I Keratin KRT25 Causes Autosomal Recessive Woolly Hair

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This study identified a new gene involved in woolly hair by linking a homozygous variant in KRT25 to autosomal recessive woolly hair in two Pakistani families.

research Keratins: The Hair Shaft's Backbone Revealed

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research The Twisting Tale of Woolly Hair: A Trait with Many Causes

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This review discusses the genetic basis of woolly hair syndrome and its potential link to heart disorders, highlighting recent discoveries of new molecular pathways and suggesting possible future treatment options.

research A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis

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research Novel Mutations in the Keratin-74 (KRT74) Gene Underlie Autosomal Dominant Woolly Hair/Hypotrichosis in Pakistani Families

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research Development of a Classification System for Extrinsic Hair Damage: Standard Grading of Electron Microscopic Findings of Damaged Hairs

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research Mutations in the Helix Termination Motif of Mouse Type I IRS Keratin Genes Impair the Assembly of Keratin Intermediate Filament

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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

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