42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.
14 citations
,
October 2015 in “PLoS ONE” This study found that keratins 5, 7, 8, and 19 are expressed in human trophoblast cells while vimentin is solely expressed in stromal-mesenchymal cells, aiding in placental cell type identification.
8 citations
,
July 2011 in “Animal science journal” The researchers reported that keratin 33A is a structural protein specific to goat cashmere hair, with increased winter expression in high-cashmere-producing breeds.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
45 citations
,
December 2007 in “The FASEB journal” This study demonstrated that hair follicle bulge stem cells can form epidermis in a tissue-engineered skin model, highlighting the significance of K5/K17 filaments in slow-cycling stem cell subsets.
2 citations
,
January 2017 in “Folia biologica” This study identified two single-nucleotide polymorphisms and three haplotypes in the KRTAP7-1 gene across yak, taurine, and zebu cattle, with the BOVIN-KRTAP7-1*A haplotype most prevalent.
52 citations
,
October 1995 in “Experimental Cell Research” Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
July 2017 in “Cancer Research” This study identified a radio-resistant population of Krt15+ stem cells in the mouse small intestine that can initiate tumors, suggesting potential targets for colon cancer therapy.
86 citations
,
May 2002 in “Journal of Investigative Dermatology” This study characterized a new human keratin, hK6irs1, specifically found in the inner root sheath of hair follicles, which suggests its role in the structural integrity and guidance of growing hair shafts.
30 citations
,
January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
12 citations
,
July 2020 in “Aging” This study found that the enhancer of zeste homolog 2 (EZH2) may promote hair growth by increasing STK40 expression and facilitating hair follicle stem cell proliferation and differentiation.
January 2012 in “Zhongguo nongye Kexue” This study concluded that transgenic somatic cell nuclear transfer technology can produce cashmere goat blastocysts carrying the K2.9 gene using specific fibroblast cells and activation methods.
3 citations
,
December 2024 in “Journal of Animal Science” In this study, researchers identified the lncRNA MSTRG.14227.1 in cashmere goats and found it inhibits the morphogenesis of secondary hair follicles by interacting with the chi-miR-433/ADAMTS3 signaling axis, affecting cashmere yield and quality.
15 citations
,
June 2012 in “British Journal of Dermatology” This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.
46 citations
,
September 2007 in “Journal of Investigative Dermatology”
30 citations
,
December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that serine 44 in the N-terminal head domain of keratin 17 is phosphorylated in response to various stimuli affecting skin keratinocyte growth, linking K17 up-regulation with growth and stress responses in skin epithelium.
July 2025 in “Journal of Investigative Dermatology” 14 citations
,
April 2016 in “PloS one” This study found that the promoter region of the sheep KRTAP11-1 gene drives specific transcriptional activity in wool follicles, suggesting it may regulate hair keratinocyte specificity.
49 citations
,
January 1972 in “Biochimica et Biophysica Acta (BBA) - Protein Structure”
87 citations
,
January 2017 in “PLoS Genetics” This study found that simultaneously inhibiting both KLK5 and KLK7 proteases completely rescued skin barrier defects in a mouse model of Netherton syndrome, suggesting both should be therapeutic targets.
19 citations
,
December 2015 in “Journal of Investigative Dermatology” This study found that keratin 17 expression is initially down-regulated and later strongly up-regulated by ionizing radiation in a rat model, with p53 repressing early transcription.
53 citations
,
August 2005 in “The Journal of Cell Biology” This study found that the absence of Sgk3 in mice leads to impaired hair follicle maturation, characterized by reduced cell proliferation, increased apoptosis, and premature regression.
53 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews extensive genetic polymorphisms in the keratin-associated proteins of human hair, indicating complexity but reporting no new clinical results and calls for further research on their potential impact on hair structure.
1 citations
,
October 2023 in “BMC Genomics” This study identified miRNAs within the Dlk1-Gtl2 region on chromosome 18 as potential epigenetic regulators of lamb fur traits, with possible implications for the PI3K-AKT signaling pathway.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that STRIP1 and the STRIPAK complex play a key role in regulating F-actin and cell-cell junctions, which are essential for maintaining the epidermal barrier in mouse skin.
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.
27 citations
,
April 2004 in “Biochemical and Biophysical Research Communications” In this study, two novel clusters of keratin-associated protein genes on human chromosome 11 were analyzed, suggesting their products are crucial for hair formation due to preferential expression in hair roots.
1 citations
,
January 2025 in “Frontiers in Oncology” This review highlights REV7's crucial roles in maintaining genome stability, its implication in several cancers, and its association with poor prognoses and treatment resistance, while also noting that REV7 suppression may improve chemotherapy sensitivity.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that the E6 gene, but not E7, was responsible for HPV8-induced expansion of keratinocyte stem cells in hair follicle junctional zones in mice.