24 citations
,
April 2017 in “Oncology Reports” In this study, full-size KRT81 was expressed in both normal breast epithelial and breast cancer cells, and contributed to the migration and invasion abilities of breast cancer cells.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
7 citations
,
April 2000 in “Mammalian Genome” This study identified a new mutation in SELH/Bc mice causing distinctive whisker and body hair abnormalities, mapped near the type I keratin cluster on chromosome 11.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
2 citations
,
May 2022 in “International journal of molecular sciences” This study found that the methylation level at CpG III site 4 of the KRT17 gene promoter significantly influences wool production in Angora rabbits, suggesting its potential as an epigenetic marker for breeding high wool yield.
November 2025 in “Cancer Management and Research” This study highlighted Keratin 17's critical role in cancer therapy resistance across several malignancies, involving various signaling pathways, and identified it as a significant biomarker and potential therapeutic target, particularly in reversing resistance.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
March 2024 in “International journal of molecular sciences” In this study, researchers identified three pathogenic de novo genetic variants contributing to epidermolysis bullosa simplex in young children, highlighting the complexity of genetic influences and underscoring the need for early genetic screening for accurate diagnosis and effective management.
January 2023 in “European journal of gynaecological oncology” This study found that depletion of KRT17 in endometrial cancer reduced cell growth, motility, and angiogenesis, suggesting KRT17 as a potential therapeutic target.
February 2020 in “Definitions” This abstract reviews the role of the human KRT 16 wild-type allele in skin and hair development and its association with certain genetic skin disorders, without presenting new findings.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
4 citations
,
May 2024 in “Genes” Among Merino × Southdown cross sheep, this study found that certain variants of the KRT81 gene were associated with differences in fleece weight, but not with staple length or fibre diameter traits.
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.
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.
18 citations
,
January 2015 in “Experimental Dermatology” This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.
17 citations
,
February 2015 in “Experimental Dermatology” This report expands the known genetic mutations linked to monilethrix by identifying new patients with KRT83 mutations, confirming its role as a causative gene for this hair disorder.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
3 citations
,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.
3 citations
,
January 2011 in “生物医学研究杂志:英文版” In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.
This study reported that genome sequencing and analysis of mink hair keratin genes reveal the amino acid composition of key proteins and offer insights into fur biosynthesis, potentially aiding conservation efforts through transgenic animal design to produce mink fur and help save endangered mink species.
156 citations
,
October 2012 in “Seminars in Cell & Developmental Biology” This study found that hair follicle stem cells initially contribute to wound re-epithelialization, but long-lasting epidermal cells are primarily derived from a stem cell population in the isthmus portion of hair follicles.
135 citations
,
October 2010 in “Stem Cells” This study found that stem cells from mouse hair follicles successfully reconstructed the ocular surface in most limbal stem cell deficiency mice, demonstrating potential for treating the condition in a mouse model.
130 citations
,
April 2001 in “Journal of Investigative Dermatology” This study reports the first keratin gene mutation affecting the tail domain, leading to a unique cytoskeletal abnormality and severe epidermal hyperkeratosis, highlighting the tail domain's critical role in keratin organization.
99 citations
,
January 2014 in “Nature communications” In this study, researchers developed a method to differentiate human iPSCs into cells that can generate all lineages of hair follicles, potentially aiding treatments for hair loss and skin disorders.
87 citations
,
September 2012 in “Journal of Cell Science” This review discusses the role of keratins in providing mechanical resilience to epithelial tissues and highlights recent therapeutic approaches for keratin diseases, but reports no new experimental findings.
62 citations
,
October 2018 in “Journal of pathology” This review discusses the mechanisms of keratin 17 regulation in diseases such as psoriasis and cancers but presents no new experimental findings, calling for further exploration of anti-K17 therapies.
62 citations
,
November 2009 in “Aging Cell” Hedgehog signaling helps keep hair follicle stem cells the same in both young and old human skin.
61 citations
,
September 1994 in “Journal of Medical Genetics” This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.
55 citations
,
February 2013 in “The Anatomical Record” This study found that the mouse nail unit structurally resembles the human nail unit, indicating it could be useful for researching nail diseases and biology.
44 citations
,
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.