January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
33 citations
,
August 2008 in “American Journal Of Pathology” This study found that K6a expression in mouse sebaceous gland ducts correlates with Hedgehog signaling, suggesting a role in duct fate.
32 citations
,
February 2008 in “Developmental dynamics” This study indicates that the Sp6 gene is crucial for the development of skin, teeth, limbs, and lungs in mice, possibly through regulating apoptosis.
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.
12 citations
,
March 2004 in “Journal of Investigative Dermatology” 57 citations
,
July 2000 in “Toxicology Letters” This study found that the K6/ODC transgenic mouse model is highly sensitive to identifying genotoxic carcinogens, showing 100% concordance with traditional rodent bioassays.
53 citations
,
October 2003 in “Genetics” 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.
1 citations
,
February 2021 in “Animal biotechnology” This study found that specific variants of the KAP6-1 gene in cashmere-producing goats were associated with changes in fiber diameter and length, suggesting potential as genetic markers for fiber improvement.
January 2022 in “International journal of dermatology and venereology” This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.
11 citations
,
November 2011 in “The Journal of Dermatology” This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.
March 2010 in “Ejc Supplements” This review discusses the paradoxical effects of valproic acid on hair, noting that it can both cause alopecia and stimulate hair growth, but reports no new experimental findings.
April 2026 in “Cellular and Molecular Immunology” In a conditional knockout mouse model, this study found that loss of the transcription elongation factor SPT6 in basal keratinocytes led to psoriasis-like skin inflammation and delayed wound healing, suggesting SPT6 plays a crucial role in maintaining epidermal immune quiescence by suppressing proinflammatory NF-κB signaling.
76 citations
,
February 1993 in “Journal of Biological Chemistry” This research observed that sheep and rabbit KAP6 genes, expressed in hair follicle cells, have high sequence similarity and indicate conservation due to evolutionary selection pressures.
46 citations
,
September 2007 in “Journal of Investigative Dermatology”
This study found that αvβ6 integrin inhibits keratinocyte proliferation during wound healing and hair regeneration, suggesting its downregulation may enhance recovery and influence epidermal stem cell behavior.
5 citations
,
July 2014 in “Molecular Biology Reports” 152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.
10 citations
,
January 2004 in “Journal of Investigative Dermatology” Krt6a-Cre transgenic mice help study gene effects on hair follicle development and tumor suppression.
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.
January 2013 in “Heilongjiang xumu shouyi” This study successfully cloned the KAP6.1 gene from Xinjiang fine-wool sheep and found its genetic sequence has high homology with sheep and goat sequences, indicating close genetic relationships.
7 citations
,
May 2025 in “Journal of Biomedical Science” This study found that KRT6A expression increases after epidermal barrier disruption, worsening skin inflammation in disease conditions, and suggests that targeting KRT6A could offer a new treatment approach for inflammatory skin diseases linked to epidermal dysfunction.
221 citations
,
June 1992 in “Proceedings of the National Academy of Sciences” In this study, IL-6 expression in transgenic mice thickened the stratum corneum without causing increased epidermal proliferation or inflammation, suggesting it may enhance skin protection rather than directly induce inflammation.
6 citations
,
July 2021 in “Frontiers in Genetics” This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that GATA6 is a key regulator of the upper pilo-sebaceous unit homeostasis and differentiation in human skin.
77 citations
,
February 2017 in “Stem Cell Reports” This study found that activation of Wnt/β-catenin signaling in mouse testes promotes spermatogonial differentiation and reduces the stem cell pool, with SHISA6 inhibiting this process and maintaining stem cell characteristics.
24 citations
,
January 2018 in “Development” This study found that Frizzled genes Fzd3 and Fzd6 are redundantly involved in controlling hair follicle polarity in mice, but operate through distinct mechanisms, highlighting their complex role in hair orientation.
14 citations
,
July 1994 in “Journal of Dermatological Science” In this study, transgenic mice expressing a mutant K6 gene developed progressive scarring alopecia and keratosis, suggesting they may model a new keratin disorder.
April 2026 in “Amino Acids” This study reviews prior research using transgenic K6/ODC mice and demonstrates that elevated polyamines in epithelial cells contribute significantly to skin tumor development and progression by stimulating proliferation, altering cell signaling and chromatin remodeling, and affecting immune functionality, amongst other mechanisms.
32 citations
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May 2015 in “Journal of Investigative Dermatology” This study found that collagen VI influences hair follicle growth and wound-induced regrowth by activating the Wnt/β-catenin signaling pathway in mice, suggesting potential therapeutic targets for hair loss.
January 1999 in “Journal of Investigative Dermatology”