February 2025 in “Frontiers in Veterinary Science” This study found that keratin hydrolyzed, egg yolk lecithin, and fish collagen peptide promoted β-catenin nuclear translocation and increased gene expression related to hair regeneration in canine and cat skin cell lines, suggesting these nutrients may help improve hair regeneration in pets.
12 citations
,
August 1984 in “Genetics Research” In this study, researchers found that the naked (N) gene in mice indirectly affects the synthesis of structural proteins in mouse hair, resulting in reduced high tyrosine protein content and unusual amino acid compositions.
356 citations
,
December 1986 in “The journal of cell biology/The Journal of cell biology” This study found that specific human hair keratins are differentially expressed in the hair follicle, suggesting a shared pathway of epithelial differentiation between hair cortex and nail plate cells.
17 citations
,
February 2015 in “Experimental Dermatology” This report expands the known genetic mutations linked to monilethrix by identifying new patients with KRT83 mutations, confirming its role as a causative gene for this hair disorder.
10 citations
,
January 2013 in “Journal of skin cancer” In this study, PKC ε transgenic mice exposed to ultraviolet radiation showed increased hair follicle stem cell frequency and altered gene expression compared to wild-type mice, suggesting a potential role in skin cancer susceptibility.
9 citations
,
April 2020 in “Journal of dermatology” This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.
6 citations
,
April 2022 in “Frontiers in cell and developmental biology” This study identified differentially expressed proteins and pathways potentially involved in wool bending in Zhongwei goats, with specific genes like COL6A1 and CRNN emerging as important candidates in this process.
January 2020 in “Medical journal of clinical trials & case studies” This report details a case of dystrophic epidermolysis bullosa in a 37-year-old male with a recessive mutation in the CLO7A1 gene, affecting type VII collagen.
1 citations
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January 2021 in “Skin appendage disorders” Chemotherapy patients don't all lose their hair due to factors like hair growth rates, age, genetics, and the type of drugs used.
15 citations
,
January 2012 in “Journal of Veterinary Science” This study examined variations in epidermal thickness and protein expression across different dog breeds, finding significant differences by anatomical site and breed, with associated mRNA and protein expression changes observed.
3 citations
,
June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
338 citations
,
July 2009 in “Development” This study demonstrates that Sox2-positive dermal papilla cells specify particular hair follicle types by showing heterogeneity in gene expression and pathway activation in these cells.
153 citations
,
April 1998 in “Current Biology” This study found that benign tumors with a high risk of malignant progression primarily arise from hair follicle cells when a mutant ras gene is expressed in a specific population of epidermal cells in mice.
March 2024 in “International journal of molecular sciences” In this study on Angora rabbits, researchers identified genetic factors influencing wool fiber diameter by analyzing hair follicle proteins, highlighting keratin family members and other proteins as key contributors to fiber differences between coarse and fine wool.
This study explored a mother and daughter with loose anagen hair syndrome linked to wooly hair, identifying an intronic variant in the KRT71 gene that affects hair keratin splicing, thus broadening the spectrum of KRT71-related disorders.
March 2023 in “JAAD case reports” This article reviews the genetic foundations of keratins in maintaining epithelial tissue integrity and links specific keratin variants to diverse ichthyosis forms, without presenting new clinical findings.
May 2025 in “Journal of Developmental Biology” This study reports that KRTAP-like proteins, which resemble keratin-associated proteins found in mammals, are also present in the cornified teeth of various lamprey species, suggesting these proteins may serve similar functions in skin appendages across different vertebrates despite independent evolutionary origins.
30 citations
,
October 2010 in “Biochemical and biophysical research communications” This study found that the Gsdma3 gene is necessary for normal hair follicle differentiation in mice, with its mutation leading to progressive hair loss and defects in hair structure.
94 citations
,
October 1994 in “The Journal of Cell Biology” This study demonstrates that overexpression of K16 in transgenic mice disrupts normal keratinization, leading to hyperkeratosis, acanthosis, and alterations in the skin's epithelial cells.
33 citations
,
September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
30 citations
,
October 1999 in “Differentiation” This study found that expression of certain mutant keratin genes in mice led to severe alopecia, suggesting a similar mechanism could cause hair loss in humans.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.
169 citations
,
May 2006 in “Genes & Development” This study found that keratin 17 and TNFα play interdependent roles in regulating hair follicle cycling, with TNFα required for the anagen–catagen transition and its ablation partially rescuing hair cycling defects in K17-null mice.
35 citations
,
October 2002 in “Biochemical and Biophysical Research Communications” This study reports that K7 expression patterns observed in mice are similar to those in humans, revealing previously unreported expression in the gastrointestinal tract, tongue, and various "hard" epithelial tissues.
73 citations
,
May 2009 in “Proceedings of the National Academy of Sciences” This study found that disrupting the Sox21 gene in mice led to progressive hair loss and regrowth, identifying Sox21 as a key regulator of hair shaft cuticle differentiation.
6 citations
,
May 2016 in “Experimental Dermatology” This study by Flores and colleagues found that the type of tumor that develops in a specific subset of epidermal stem cells is influenced by which tumor suppressor gene is deleted.
45 citations
,
March 2001 in “Journal of Investigative Dermatology” This study identified a new cytokeratin, mK6irs, specifically expressed in the inner root sheath of mouse hair follicles, distinguishing it as a member of the type II cytokeratin family.
2 citations
,
May 2022 in “International journal of molecular sciences” This study found that the methylation level at CpG III site 4 of the KRT17 gene promoter significantly influences wool production in Angora rabbits, suggesting its potential as an epigenetic marker for breeding high wool yield.
77 citations
,
April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
75 citations
,
October 1999 in “Differentiation” This study suggests that mouse keratin 6 isoforms, K6a and K6b, have overlapping but distinct expression profiles, differing notably in their expression in suprabasal cells and response to phorbol esters.