A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
October 2003
in “
Annales de Génétique
”
Research cited in this study
8 / 8 resultsresearch The Catalog of Human Hair Keratins
The study cataloged human type II hair keratins, identifying six members divided into two groups: group A (hHb1, hHb3, hHb6) and group C (hHb2, hHb4, hHb5). Using specific antisera, a two-dimensional catalog was established, revealing isoelectric variants and their roles in hair differentiation. hHb5 and hHb2 were linked to early hair differentiation stages, while hHb1, hHb3, and hHb6 were expressed in advanced stages. hHb4 was found in the tongue, not hair follicles. The study suggested random keratin-pairing during differentiation and integrated type II keratins with type I and epithelial keratins into a comprehensive human keratin catalog.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with 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
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
research Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle
Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.