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Research 61–90 of 1000+
- A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
- Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
- Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
- Characterisation of Four New Genes in the Ovine KAP19 Family
- Keratins 1 and 10 or homologues as regular constituents of inner root sheath and cuticle cells in the human hair follicle.
- A homozygous missense variant in type I keratin <i>KRT25</i> causes autosomal recessive woolly hair
- Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
- Hair follicle-specific keratins and their diseases
- Animal models of human skin disease
- An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
- GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
- Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix
- A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
- Regular expression of hair follicle keratins as crucial factors in tissue engineering of hair follicles
- Characterization of a First Domain of Human High Glycine-Tyrosine and High Sulfur Keratin-associated Protein (KAP) Genes on Chromosome 21q22.1
- 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
- Genetic and biochemical aspects of the synthesis of keratin by hair follicles
- Chromosomal localization of acidic and basic keratin genes of the domestic dog
- Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 2111In fond memory of Dr Peter Steinert.
- Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
- Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
- Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
- A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
- A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
- Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11
- Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
- Evolution of Trichocyte Keratins
- Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.