42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
110 citations
,
August 2004 in “British Journal of Dermatology” In this study, researchers identified the ventral matrix as the primary source of nail plate formation, while the dorsal portion is generated by the apical matrix.
61 citations
,
February 1997 in “Differentiation” Hair differentiation starts earlier than thought, involving multiple type-II keratins.
272 citations
,
September 2001 in “Journal of Biological Chemistry” This study cataloged human type II hair keratins, detailing their expression and differentiation roles in hair follicles and comparing them with type I keratins to explore keratin-pairing principles.
29 citations
,
April 2003 in “Experimental dermatology” In this study, in vitro growth of human hair follicles did not alter hair keratin expression patterns, maintaining follicle integrity and proper keratinization similar to in vivo conditions.
199 citations
,
January 2004 in “The International Journal of Developmental Biology” This review discusses advances in understanding hair and hair follicle structure, gene expression, and molecular signals in hair formation, without reporting new clinical findings.
139 citations
,
December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a new type II cytokeratin, named K6hf, exclusively expressed in the companion layer of the human hair follicle, distinguishing it from other keratins and suggesting a unique biochemical role.
89 citations
,
September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.
62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
41 citations
,
November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
40 citations
,
January 2016 in “PLoS ONE” The study found that exposing Arbas Cashmere goats to a short photoperiod significantly increased cashmere production by extending the anagen phase of hair follicles, with gene expression changes identified as contributing factors.
21 citations
,
April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.
12 citations
,
January 2014 in “Cell structure and function” 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.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
9 citations
,
January 2015 in “Current problems in dermatology” This review highlights recent genetic research advancements in understanding hereditary hair diseases but reports no new study results, emphasizing the identification of genes related to both monogenic and polygenic hair disorders.
5 citations
,
September 2018 in “Bioscience, Biotechnology, and Biochemistry” In this study, sodium thiosulfate was observed to promote hair growth in mice by encouraging hair follicles to enter the growth phase and complementing the effects of minoxidil, suggesting potential benefits for hair loss treatment.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
January 2026 in “Journal of Clinical and Investigative Dermatology” This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.
February 2024 in “Biomedical materials” This study developed a new human in vitro hair model that replicates in vivo hair characteristics and may be suitable for high throughput screening of hair growth treatments.
14 citations
,
December 1998 in “British Journal of Cancer” This study found that breast carcinomas ectopically express a truncated form of hHb1 mRNA, which is associated with epithelial cell transformation.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
1 citations
,
July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
8 citations
,
June 2001 in “Journal of Biological Chemistry” This study found that the truncated hHb1-DeltaN transcript in breast cancer cells is produced by a cryptic intron promoter and responds to DNA demethylation, potentially altering cancer cell adhesion.
6 citations
,
March 1996 in “Journal of Investigative Dermatology” 8 citations
,
April 1997 in “Experimental Dermatology” This study found that hHbl gene expression is localized in the cortical cells of the human hair shaft and is notably high in pilomatricoma cells transitioning to hair shaft keratinocytes.
18 citations
,
September 2003 in “International Journal of Cancer” This study found that Epstein-Barr virus infection upregulated a truncated variant of human basic hair keratin 1 (hHb1-ΔN) in gastric carcinoma cell lines, suggesting a possible link to carcinoma differentiation.
32 citations
,
February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports the cloning and sequencing of two type II hair-specific keratin genes, ghHb1 and ghHb6, located on chromosome 12q13, which are expressed during hair growth.