78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
This study analyzed inner root sheath-specific genes in Tan sheep during various growth stages, finding peak expression at birth. The pattern of genes KRT71, KRT72, and TCHH is consistent with wool crimp, potentially influencing wool morphology.
18 citations
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October 2013 in “Stem Cell Research & Therapy” This study found that combining polybrene and a ROCK inhibitor can effectively expand human keratinocyte stem/progenitor cells carrying a transgene, aiding their use in regenerative medicine.
139 citations
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December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a new type II cytokeratin, named K6hf, exclusively expressed in the companion layer of the human hair follicle, distinguishing it from other keratins and suggesting a unique biochemical role.
May 2010 in “OPAL (Open@LaTrobe) (La Trobe University)” This research discusses potential cancer vaccine strategies using cell-based and DNA vector-based approaches, and suggests targeting the v3 splice variant of thioredoxin reductase 1 to inhibit cancer cell motility and metastasis formation.
30 citations
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March 2019 in “Archives animal breeding/Archiv für Tierzucht” In this study, variation in the KRTAP15-1 gene in goats was linked to changes in cashmere fibre diameter, with specific variants showing dominant or recessive effects.
This study explored a mother and daughter with loose anagen hair syndrome linked to wooly hair, identifying an intronic variant in the KRT71 gene that affects hair keratin splicing, thus broadening the spectrum of KRT71-related disorders.
44 citations
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March 2012 in “Molecular Carcinogenesis” This study found that keratin 15 expressing cells from the hair follicle contribute to the development and long-term persistence of cutaneous papillomas in transgenic mice, with a subset showing the Ha-ras mutation.
11 citations
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February 2022 in “Scientific Reports” This study found that CD26+ fibroblasts are crucial for effective extracellular matrix production and achieving rapid epidermal and dermal homeostasis in human tissue-engineered skin substitutes transplanted onto rodents.
August 2024 in “Advanced Healthcare Materials” In this study, water-soluble recombinant keratins, specifically RK81, were developed and used in microneedles to investigate their effect on hair growth, discovering that more than 40% of the hair follicles responded, demonstrating the potential for hair growth promotion.
92 citations
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January 2012 in “International Journal of Biological Sciences” This article proposes an updated naming system for keratin-associated proteins and genes, aiming to improve data storage and retrieval by including species information and genetic variation.
3 citations
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July 2024 in “Frontiers in Medicine” This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.
25 citations
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November 2018 in “Cell reports” This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.
6 citations
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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.
6 citations
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January 2010 in “Journal of Biochemical and Molecular Toxicology” This study found that the ID2 gene was highly expressed in bulge-derived keratinocytes when exposed to contact sensitizers and may serve as a marker to distinguish sensitizers from irritants during in vitro testing.
57 citations
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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.
121 citations
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December 2001 in “American Journal of Dermatopathology” This study found that trichoblastomas and nodular basal cell carcinomas have similar cytokeratin expression patterns, indicating differentiation towards the outer root sheath epithelium.
April 2021 in “Journal of Investigative Dermatology” Krox20 is crucial for hair growth and maintaining skin stem cells.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that rare damaging variants in the KRT82 gene, which affect hair shaft integrity, may contribute to the risk of alopecia areata.
3 citations
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June 2018 in “Internal Medicine” In this study, a patient with Cronkhite-Canada syndrome complicated by severe sepsis and disseminated intravascular coagulation was successfully treated using combined therapies, including recombinant human soluble thrombomodulin, despite the absence of a standard treatment regimen for CCS.
September 2023 in “HAL (Le Centre pour la Communication Scientifique Directe)” In this study, peptide-based nanoparticles were successfully used to deliver the CRISPR-Cas9 system into cancer cells, effectively targeting and editing KRAS mutations, suggesting promising therapeutic potential for cancer treatment.
6 citations
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March 2017 in “Journal of the European Academy of Dermatology and Venereology” This article reviews genetic mutations linked to monilethrix, a hereditary hair disorder, and reports no new clinical findings on the condition's variability in symptoms and severity.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the researchers reported that Krox20 plays a crucial role in epidermal homeostasis and hair development, influencing stem cell maintenance and cell survival through the modulation of cellular pathways.
441 citations
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May 1996 in “Journal of Cell Science” This study found that keratin 19 may be a marker for skin stem cells, helping to characterize these cells in different conditions and potentially explaining variations in healing rates between children and adults.
May 2005 in “Molecular Carcinogenesis” This study found that mrp/plf-mRNA expression in murine skin increases in response to different tumor promoters, suggesting its potential as a short-term biomarker for chemical carcinogenesis.
67 citations
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August 2004 in “Endocrinology” This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.
November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
January 2013 in “International Journal of Trichology” This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.
53 citations
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September 1999 in “The journal of cell biology/The Journal of cell biology” In this study, expressing human K16 in the epidermis of K14 null mice prevented early skin blistering but led to age-related anomalies, indicating K16 and K14 have distinct roles despite their sequence similarity.
28 citations
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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.