4 citations
,
January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the KLHL24-ΔN28 protein variant disrupts hair follicle stem cells in a mouse model, leading to premature hair loss by degrading keratin 15.
June 2026 in “Strathprints: The University of Strathclyde institutional repository (University of Strathclyde)” In this study, researchers found that inhibiting IKKα in patient-derived CCS tumour models reduces tumour viability, supporting the potential for topical IKKα inhibitors as a treatment for CCS.
4 citations
,
January 2004 in “Biological and Pharmaceutical Bulletin” In this study, AgK114 was found to be transiently induced in hamster epidermal keratinocytes following skin damage, suggesting its role in the recovery process after injury.
34 citations
,
January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.
114 citations
,
May 2001 in “Development” This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.
April 2018 in “Journal of Investigative Dermatology” This study observed that β-catenin overexpression in human squamous cell carcinoma cells led to increased CREB expression, which significantly enhanced clonogenic activity, suggesting CREB as a β-catenin-regulated factor promoting cancer characteristics.
2 citations
,
October 2023 in “PubMed” This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.
4 citations
,
January 2021 in “Journal of Clinical Medical Research” This review provides an in-depth analysis of the structure and function of c-kit activation, and its role in both normal physiological and pathological conditions, with no new research findings reported.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the complexity and genetic organization of human keratin gene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.
165 citations
,
September 2001 in “Genes & development” This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
18 citations
,
November 2005 in “Archives of Dermatological Research” 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.
79 citations
,
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.
10 citations
,
September 2021 in “The FASEB Journal” This study found that ACKR2 plays a crucial role in reducing inflammatory skin fibrosis and promoting inflammation resolution through IFN‐β production, limiting tissue scarring.
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.
184 citations
,
September 2006 in “PLoS Genetics” This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.
3 citations
,
December 2020 in “Scientific reports” This study found that mitochondrial oxidative phosphorylation in epithelial cells is necessary for proper enamel formation and odontoblast differentiation in developing incisor teeth in K320E-Twinkle Epi mice.
9 citations
,
September 2019 in “PLoS ONE” This study demonstrated that keratin K124 is specific to equine hoof lamellar tissue and established monoclonal antibodies that can specifically recognize K124 without cross-reacting with other tissues.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
75 citations
,
September 2016 in “EMBO journal” This study found that PRC2 plays a crucial role in maintaining intestinal homeostasis by supporting progenitor cell proliferation and limiting secretory lineage differentiation.
88 citations
,
June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
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.
137 citations
,
October 2009 in “The American journal of pathology” This study found that matriptase, a membrane serine protease, is crucial for maintaining multiple types of epithelial tissues in mice, with its absence leading to severe organ dysfunction and increased permeability.
17 citations
,
August 2018 in “BMC Genomics” The researchers found that HOXC13 regulates different keratin proteins in a mixed manner, with certain SNPs impeding this regulation, while also demonstrating negative-feedback by HOXC13 and positive regulation by LEF1 and melatonin on the HOXC13 promoter.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
93 citations
,
July 2006 in “Journal of Investigative Dermatology” This study describes the expression patterns of type I inner root sheath keratin proteins K25–K28 in human hair follicles, highlighting their distinct distribution within different layers.
38 citations
,
November 2020 in “International journal of biochemistry & cell biology” This review discusses the biological roles and diagnostic significance of keratins in mammalian colon epithelial cells and reports no new clinical results.
9 citations
,
November 2019 in “Cell calcium” This study found that a mutation causing Stormorken syndrome in mice led to skeletal abnormalities and unusual hair growth, showcasing the STIM1 R304W protein’s role in bone development and cell fate.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
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.