Investigating the Role of Keratin Proteins and Microbial Associations in Hereditary and Pathogenic Alopecia

October 2024 in “ Archives of Dermatological Research ”

Nadia Liquat, Mahreen Hassan, Farheen Shafique, Sana Khan, Abdullah R. Alanzi, Najeeb Ullah Khan

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research How Our Microbiome Influences the Pathogenesis of Alopecia Areata

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research Autosomal Recessive Monilethrix: Novel Variants of the DSG4 Gene in Three Chinese Families

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research New Drugs Under Investigation for the Treatment of Alopecias

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research Therapy and Antifungal Susceptibility Profile of Microsporum Canis

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research Novel D323G Mutation of DSG4 Gene in a Girl with Localized Autosomal Recessive Hypotrichosis Clinically Overlapped with Monilethrix

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research Novel KRT83 and KRT86 Mutations Associated with Monilethrix

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research Marie-Unna Hereditary Hypotrichosis

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research The Human Hair: From Anatomy to Physiology

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research To Grow or Not to Grow: Hair Morphogenesis and Human Genetic Hair Disorders

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research Current Genetics in Hair Diseases

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research Molecular Modeling of Hair Keratin/Peptide Complex: Using MM-PBSA Calculations to Describe Experimental Binding Results

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research A Case of Monilethrix Caused by Novel Compound Heterozygous Mutations in the Desmoglein 4 (DSG4) Gene

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This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.

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

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research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74, a Potential Determinant of Human Hair Texture

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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 Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

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research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis

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research A Missense Mutation in the Cadherin Interaction Site of the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

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research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

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research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype

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research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1

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