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.
60 citations
,
March 2006 in “Journal of Medical Genetics” This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.
47 citations
,
January 2024 in “iScience” The researchers reported that stress-induced keratins in human skin are expressed at lower levels than those in healthy skin and are co-regulated with genes involved in differentiation, inflammation, and immunity, rather than replacing keratins of normal differentiation or indicating cell proliferation.
15 citations
,
May 2014 in “Journal of Biological Chemistry” In this study, targeting the expression of a keratin KRT5/KRT8 chimeric cDNA in keratin-deficient mice partially restored structural defects in epidermal cells, but did not fully normalize skin health.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.
12 citations
,
January 2014 in “Cell structure and function” This study suggests that specific combinations of human type I and II hair keratins, particularly K35-K85 and K36-K81, have distinct in vitro assembly properties that are significant for macrofibril formation.
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.
54 citations
,
November 2015 in “Methods in enzymology on CD-ROM/Methods in enzymology” This chapter reviews keratins in skin epithelia, including their roles in cellular function and disease, and reports no new experimental results.
98 citations
,
December 2015 in “The Journal of Cell Biology” In this study, researchers found that the absence of type I or type II keratins in mice leads to severe skin barrier defects, highlighting keratins' crucial role in epidermal structure and function.
40 citations
,
September 2010 in “Journal of Biological Chemistry” This study found that keratin K80, structurally similar to hair keratins, is broadly expressed in various epithelial tissues and is involved in intermediate filament formation with multiple type I partners.
2 citations
,
May 2023 in “Cancer medicine” This review reports that KRT80 is overexpressed in various cancers, enhancing cancer cell proliferation, invasiveness, and migration, suggesting it as a potential therapeutic target, though more clinical studies are needed to fully understand its role in cancer prognosis.
4 citations
,
January 2009 in “PubMed” In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.
211 citations
,
April 2018 in “Cold Spring Harbor Perspectives in Biology” Keratins are crucial for cell structure, growth, and disease risk.
9 citations
,
January 2017 in “Annals of Dermatology” In this study of a TRPS type I patient, many genes related to keratin and hair development were down-regulated in balding scalp areas, providing new insights into TRPS and hair morphogenesis.
174 citations
,
November 2016 in “Cell stem cell” This study found that squamous cell carcinomas from hair follicle stem cells are more prone to epithelial to mesenchymal transition and metastasis than those from interfollicular epidermis, due to distinct chromatin landscapes.
6 citations
,
November 2021 in “Frontiers in immunology” This study suggests that STAT3 signaling in keratinocytes is crucial for maintaining skin homeostasis by regulating hair follicle-specific keratin genes, potentially impacting dermatitis development through microbe-triggered inflammatory responses.
This study examined the molecular communication in psoriasis cells, highlighting unique immune cell interactions and identifying new features of the hair follicle cell-psoriasis axis. It suggests the potential for targeted therapies at the single-cell level to improve psoriasis treatment.
10 citations
,
January 2004 in “Journal of Investigative Dermatology” Krt6a-Cre transgenic mice help study gene effects on hair follicle development and tumor suppression.
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.
4 citations
,
October 2003 in “Annales de Génétique” This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.
1398 citations
,
May 2008 in “Histochemistry and Cell Biology” This review summarizes the cell type distribution and functional significance of human keratins, emphasizing their roles in tumor diagnosis and potential clinical applications, and reports no new clinical findings.
53 citations
,
April 2021 in “Cell Host & Microbe” This study found that skin microbiota, particularly in wild-type mice, promotes wound-induced hair follicle neogenesis and wound healing, highlighting the potential downsides of routine antibiotic use on skin regeneration.
2 citations
,
August 2020 in “Scientific reports” This study identified genes potentially involved in the development and differentiation of skin appendages in Atelerix albiventris, noting significant enrichment of immune-related genes in hair-type tissues.
November 2024 in “Biochemical and Biophysical Research Communications” In this study, researchers observed that mutant mice with a genetic hair loss condition exhibited significant differential expression of genes related to keratinization and hair follicle formation, providing insights into potential strategies for understanding and treating alopecia.
7 citations
,
May 2025 in “Journal of Biomedical Science” This study found that KRT6A expression increases after epidermal barrier disruption, worsening skin inflammation in disease conditions, and suggests that targeting KRT6A could offer a new treatment approach for inflammatory skin diseases linked to epidermal dysfunction.
3 citations
,
December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study revealed key cellular dynamics and interactions during early embryonic mouse skin development, highlighting complex transitions from precursor states to diverse multilayered structures.
3 citations
,
February 2022 in “Frontiers in cell and developmental biology” This study found that the circular RNA circCOL1A1 influences the formation of superior-quality brush hair in white goats by regulating hair follicle stem cell behavior and interacting with the miR-149-5p/CMTM3/AR axis.
21 citations
,
January 2018 in “PLoS Genetics” This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.
July 2026 in “Nature Communications” In this study, researchers used patient-derived organoids to model metastasis in colorectal cancer and discovered that cancer cells temporarily switch to a wound-healing program, orchestrated by reduced EZH2 activity and YAP signaling, before spreading to new organs.
52 citations
,
October 2012 in “Journal of Dermatological Science” This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no new clinical results.