research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
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5 / 36 resultsresearch 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
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.
research Structural Stability of Wild Type and Mutated α-Keratin Fragments: Molecular Dynamics and Free Energy Calculations
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 The in vitro Assembly of Hair Follicle Keratins: Comparison of Cortex and Companion Layer Keratins
This study found that hair follicle-specific keratins can form different structural assemblies depending on ionic conditions, with hair cortex keratins requiring physiological salt conditions to form intermediate filaments.
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