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.
105 citations
,
October 2018 in “Nature” This study found that vismodegib promotes Basal cell carcinoma regression by inducing tumor differentiation but leaves a small population of quiescent cells that can drive relapse, which can be eliminated by adding a Wnt signaling inhibitor.
May 2024 in “European Journal of Immunology” This review discusses the potential of targeting Coenzyme A metabolism to restore metabolic balance, reduce chronic inflammation, and enhance immune function, particularly by modulating Vitamin B5 pathways involved in Th17-mediated inflammation and CD8-dependent anti-tumor immunity.
47 citations
,
September 2004 in “Journal of Biological Chemistry” This study provides evidence supporting a regulatory relationship between the transcriptional regulator Hoxc13 and Krtap16 genes, which are crucial for proper hair growth in mice.
17 citations
,
September 2018 in “Matrix Biology” The researchers reported that mouse keratinocyte-specific deletion of laminin γ1 led to delayed coat pigmentation due to impaired melanocyte migration and differentiation, linked to altered laminin composition in the basement membrane.
70 citations
,
December 2004 in “Differentiation” This study identifies six novel keratin genes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratin genes in the domain have been characterized transcriptionally.
September 2022 in “JAAD case reports” This case study of a 45-year-old man from Tonga describes the identification of pachyonychia congenita through genetic testing, revealing a mutation in the keratin gene KRT16, associated with chronic painful skin and nail conditions.
7 citations
,
April 2013 in “Journal of Cellular Biochemistry” This study found that mice lacking CD61 had significantly shorter lower incisors compared to wild-type mice, suggesting CD61 is crucial for proper tooth growth and pre-ameloblast proliferation.
11 citations
,
May 2013 in “Journal of Investigative Dermatology” KRTAP10 proteins help form the hair shaft's tough outer layer by interacting with specific hair keratins.
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.
January 2026 in “Human Mutation” This study reports that a clinical prognostic model based on immune-related genes improved survival prediction for patients with clear cell renal cell carcinoma, also identifying potential drugs targeting the gene DOCK8.
42 citations
,
September 2015 in “Gene” This study demonstrated that FGF5s acts as an inhibitor of FGF5 in regulating hair growth cycles in cashmere goat dermal papilla cells.
4 citations
,
August 2013 in “Chinese Medical Journal” This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.
July 2023 in “Indian Journal of Animal Health” This study found that fibroblast growth factor 5 may enhance Cashmere goat hair growth by altering the expression of specific genes related to keratin and keratin-associated proteins.
5 citations
,
July 2014 in “Molecular Biology Reports” 13 citations
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January 2018 in “Advances in experimental medicine and biology”
6 citations
,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.
2 citations
,
August 2022 in “World Journal of Clinical Cases” In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.
4 citations
,
July 2024 in “Animals” In this study on Chinese Tan sheep, researchers discovered a variant of the KRTAP19-5 gene associated with decreased curvature of fine wool fibres, highlighting potential genetic markers for improving wool quality.
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.
This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
13 citations
,
January 2017 in “Chemical & Pharmaceutical Bulletin” This study found that a synthetic avicequinone C analogue, 5e, was significantly more potent in inhibiting steroid 5α-reductase type 1 activity in human keratinocytes compared to the original isolated compound.
26 citations
,
July 2007 in “Biochemical Pharmacology” This study found that phenyl-imidazole sulfonamide derivatives, particularly ISCK03, inhibited c-kit signaling and promoted depigmentation in various experimental settings, suggesting potential use as skin-whitening agents.
7 citations
,
November 2007 in “Differentiation” This study found that NF-κB's p65/RelA subunit can directly activate hair keratin genes, suggesting a new role in hair formation that may inform the understanding of ectodermal dysplasias.
8 citations
,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” This article discusses a novel mutation in the FERMT1 gene identified in a Spanish family with Kindler’s syndrome but reports no new clinical results.
47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.
January 2005 in “Australian viticulture” This study found that different bovine epithelial tissues express varying types of cytokeratins, with hair follicle and nasolabial gland expressing both acidic and basic types, while others express only one or the other.
December 2019 in “The American Journal of Gastroenterology” In this study, three cases of Cronkhite-Canada syndrome revealed small bowel mucosal lesions, but these findings did not correlate with clinical symptoms or steroid treatment outcomes.
79 citations
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October 2003 in “PubMed” In this study, PKCepsilon transgenic mice showed increased TNFalpha shedding during skin tumor promotion, which may contribute to the development of metastatic squamous cell carcinoma.