research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
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30 / 1000+ resultsresearch Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain
The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
research Sequences and differential expression of three novel human type-II hair keratins
Hair differentiation starts earlier than thought, involving multiple type-II keratins.
research Type II Epithelial Keratin 6hf (K6hf) Is Expressed in the Companion Layer, Matrix, and Medulla in Anagen-Stage Hair Follicles
This study found that keratin 6hf, a type II keratin, is expressed in specific regions of mouse and human hair and suggests potential interactions with keratin 17, impacting hair development and associated disorders.
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.
research 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 Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Structure and site of expression of a murine type II hair keratin
This study identified and characterized a murine type II hair keratin, demonstrating its presence in specific cells of hair and tongue tissues.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.
research 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
This study found that rare damaging variants in the KRT82 gene, which affect hair shaft integrity, may contribute to the risk of alopecia areata.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.
research K6irs1, K6irs2, K6irs3, and K6irs4 Represent the Inner-Root-Sheath-Specific Type II Epithelial Keratins of the Human Hair Follicle1
This study reports the cloning and expression details of two new human type II keratins, K6irs3 and K6irs4, in the hair follicle's inner root sheath, suggesting a distinct functional role related to hair structure.
research Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes
Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
research Sequence analyses of Type I and Type II chains in human hair and epithelial keratin intermediate filaments: Promiscuous obligate heterodimers, Type II template for molecule formation and a rationale for heterodimer formation
Type I and Type II keratin chains can form heterodimers despite sequence differences.
research Hair follicle differentiation: expression, structure and evolutionary conservation of the hair type II keratin intermediate filament gene family
This study characterizes a type II keratin intermediate filament gene family involved in early sheep follicle differentiation, detailing gene expression patterns and sequences in hair cortical cells.
research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
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 The human type I keratin gene family: Characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain
This study identifies six novel keratin genes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratin genes in the domain have been characterized transcriptionally.
research In vitro Assembly Properties of Human Type I and II Hair Keratins
This study suggests that specific combinations of human type I and II hair keratins, particularly K35-K85 and K36-K81, have distinct in vitro assembly properties that are significant for macrofibril formation.
research Complete sequence of a hair-like intermediate filament type II keratin gene
This study sequenced a related gene to KRT2.9 called KRT2.13, which encodes a type II keratin protein not expressed in the hair follicle, and found significant sequence homology suggesting possible gene conversion or conservation of functional sequences.
research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.
research Expression analysis of the type I keratin protein keratin 33A in goat coat hair
The researchers reported that keratin 33A is a structural protein specific to goat cashmere hair, with increased winter expression in high-cashmere-producing breeds.
research Role of human type II hair keratins in intermediate filament bundling in vitro
research In vitro assembly properties of human type I and II hair keratins
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.
research Novel Type I Hair Keratins K39 and K40 Are the Last to be Expressed in Differentiation of the Hair: Completion of the Human Hair Keratin Catalog
K39 and K40 are the last keratins expressed in hair development, completing the hair keratin catalog.
research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
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 cDNA encoding the human type I hair keratin hHa1
hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.
research A novel human type I hair keratin gene: evidence for two keratin hHa3 isoforms
This study identified a novel human type I hair keratin, hHa3-II, as an isoform of a previously described hHa3 keratin, with distinct sequence differences indicating separate gene encoding.
research A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.