4 citations
,
April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study developed a mouse model lacking keratin 16 to replicate palmoplantar lesions, which may help uncover the molecular mechanisms driving these lesions in pachyonychia congenita and focal non-epidermolytic palmoplantar keratoderma.
May 2026 in “ACS Catalysis” In this study, researchers using QM/MM simulations identified key molecular motions and residue interactions in the enzyme SRD5A2 that significantly influence its catalytic efficiency, demonstrating that specific residues play critical roles in stabilizing transition states and reducing activation barriers.
3 citations
,
December 2021 in “Proteins” This study found that straight crimp mutant wool differs from crimpy wool in the layout of cortical cells and the relative proportions of keratin and keratin-associated proteins.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
40 citations
,
June 2013 in “Scientific Reports” This study found an association between a splice site variant in the KRT71 gene and curly hair in Selkirk Rex cats, identifying a significant locus on chromosome B4.
April 2010 in “Cancer Research” This study suggests that Mcl-1 has a non-apoptotic role in promoting keratinocyte proliferation and Wnt/β-catenin signaling, potentially indicating a novel oncogenic activity.
28 citations
,
March 1993 in “Journal of Cell Science” In this study, rabbit esophageal epithelial cells were found to produce K4 and K13 keratins in suprabasal cells, forming disulfide-crosslinked dimers that may support the physical stability of the esophageal lining.
13 citations
,
March 2020 in “Frontiers in cell and developmental biology” This study suggests that 3,4,5-tri-O-caffeoylquinic acid activates β-catenin to enhance pigmentation in mouse hair follicles, human melanocytes, and melanoma cells during the hair cycle's growth phase.
January 2003 in “The Chinese Journal of Burns Wounds & Surface Ulcers” This study observed that cytokeratin 19 expression in cutaneous carcinomas correlates with the grade of squamous cell carcinomas, with more expression in higher-grade SCCs.
17 citations
,
June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study found that genes in the human keratin-associated protein 1 family may have evolved mainly through gene duplication of cysteine-repeat motifs.
22 citations
,
November 2014 in “Proteins Structure Function and Bioinformatics” In this study, researchers mapped cysteine accessibility in wool keratins and KAPs, revealing that certain cysteines in keratin end domains and Types I and II rod domains are accessible and likely involved in forming disulfide bonds.
101 citations
,
August 2001 in “The Journal of Cell Biology” This study found that while most mice lacking MK6a and MK6b genes died from tongue epithelium disintegration, about 25% survived and showed no hair or nail defects due to a newly discovered MK6hf gene.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
49 citations
,
October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
33 citations
,
May 2018 in “Stem Cell Reports” This study demonstrates that Krt15 marks long-lived, multipotent, and injury-resistant crypt cells in the small intestine, which may serve as the cell of origin in intestinal cancer.
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.
38 citations
,
December 2006 in “Journal of Investigative Dermatology” Keratin patterns in hair follicles help understand hair growth and potential hair and nail disorders.
62 citations
,
December 2007 in “Journal of Cellular and Molecular Medicine” This article reviews the role of Kremen proteins as regulators in the Wnt/β-catenin signaling pathway, highlighting their significance in development and cancer, but reports no new clinical results.
1 citations
,
April 2018 in “Journal of Investigative Dermatology” This study found that Polycomb repressive complex 1 is crucial for skin development and stem cell specification, influencing gene activity beyond its known repressor functions.
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.
36 citations
,
March 2011 in “Stem Cell Reviews and Reports” 2 citations
,
May 2020 in “Journal of the American Academy of Dermatology” Hair shaft changes may be linked to CCCA, but their role is unclear.
3 citations
,
April 2025 in “Science Advances” This study found that mice with a homozygous knockout of the Ten1 gene, developed through CRISPR-Cas9-mediated exon 3 deletion, exhibited telomere shortening and symptoms consistent with accelerated aging, such as reduced lifespan, skin changes, aplastic anemia, and cerebellar hypoplasia.
April 2023 in “Cancer research” This study suggests that KRTAP2-3 may serve as a novel biomarker to identify cells in the polyaneuploid cancer cell state, which is linked to therapy resistance and poor prognosis in prostate cancer.
6 citations
,
March 2007 in “BioTechniques” This study observed that PCR-based genotyping for cre-loxP mice can lead to errors due to cre-mediated recombination in non-target tissues like tails, affecting the detection of lox alleles.
23 citations
,
March 2019 in “Gene” In this study, researchers found that the evolutionary and structural features of the oFGF5 gene in sheep may influence hair follicle development and hair growth regulation.
5 citations
,
December 1996 in “Biochemical and Biophysical Research Communications” In this study, keratin genes mHa1 and mHb4 were unable to form an extensive keratin network in one cell line, altering endogenous keratin distribution, but showed better integration in another cell line.
99 citations
,
February 2000 in “PubMed” This study found that overexpression of PKCepsilon in transgenic mice reduced papilloma development but accelerated carcinoma formation in a skin tumor promotion model.
136 citations
,
July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified mutations in the FGF5 gene as a cause of extreme eyelash growth in Pakistani families, highlighting a potential target for regulating eyelash growth.