38 citations
,
October 2001 in “British Journal of Dermatology” This study identified a new keratin, K6irs, as a potential histological marker for the inner root sheath of hair follicles in mice and humans, and as a candidate gene for hereditary hair defects.
This review discusses the cornification process of epidermal keratinocytes in forming the skin barrier and reports no new results; it emphasizes the importance for diagnosis and treatment of skin disorders.
26 citations
,
February 1998 in “DNA and Cell Biology” This research identified that the constitutive and inducible expression of the Keratin 6 gene in transgenic mice skin is controlled by multiple regulatory elements spread throughout its 5' flanking region.
75 citations
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October 1999 in “Differentiation” This study suggests that mouse keratin 6 isoforms, K6a and K6b, have overlapping but distinct expression profiles, differing notably in their expression in suprabasal cells and response to phorbol esters.
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.
22 citations
,
April 2020 in “Scientific reports” This study explored gene expression in Changthangi goats and found that higher expression of keratin-related genes and specific signaling pathways may play a role in the development of Pashmina fiber.
17 citations
,
February 2015 in “Cell Death and Disease” This study found that inhibiting AP1 transcription factor activity in the suprabasal epidermis of mice alters keratinocyte gene expression, reducing barrier integrity and mimicking human keratoderma.
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.
3 citations
,
June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
45 citations
,
January 2010 in “Journal of Veterinary Medical Science” This study identified a mutation in the keratin 71 gene that causes curly hair in certain rats, advancing our understanding of hair formation.
79 citations
,
October 1998 in “Genomics” This study found that the mK6alpha and mK6beta genes in mice are regulated differently at the mRNA level, with implications for understanding K6 gene evolution and function in mammals.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.
127 citations
,
March 2016 in “PLoS ONE” This study found that transcriptome profiling of cashmere goat skin revealed key genes and pathways involved in hair follicle initiation, differentiation, and maturation, which are critical for improving fleece production.
71 citations
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August 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study revealed that human keratin-associated protein genes are expressed in specific patterns in hair fiber regions and vary in size, with some variations distinct across different populations.
27 citations
,
July 2013 in “Journal of Dermatological Science” The conclusion is that androgenetic alopecia and senescent alopecia have unique gene changes, suggesting different causes and potential treatments for these hair loss types.
19 citations
,
April 2015 in “International Journal of Molecular Sciences” This study identified distinct gene expression patterns in wool follicle bulbs that may play important roles in wool follicle cycling and regeneration in sheep.
17 citations
,
October 2017 in “Scientific reports” This study found that Super Merino sheep have a higher wool follicle density, finer fleece, and distinct gene expression compared to Small Tail Han sheep, which may inform future breeding and genetic interventions.
11 citations
,
January 2018 in “Royal Society Open Science” This study investigated the formation of Type III brush hair in Chinese Haimen goats and identified genetic factors that may involve heat stress in the process.
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.
6 citations
,
September 2019 in “Archives of Dermatological Research” In this study, researchers identified 32 differentially expressed genes involved in androgenetic alopecia, with down-regulated genes associated with Wnt and TGF-beta signaling and up-regulated genes linked to oxidative stress pathways.
4 citations
,
December 2020 in “Mammalian genome” This study found that pelage abnormalities in Harlequin mutant mice are linked to severe AIF deficiency and associated with altered expression of genes related to hair structure.
2 citations
,
April 2018 in “Journal of Investigative Dermatology” This study suggests that frontal fibrosing alopecia is a highly inflammatory disease involving TH1 and JAK-STAT pathways, without reduced hair keratins, highlighting JAK-STAT signaling as a potential therapeutic target.
August 2025 in “Animal Bioscience” In this study, researchers examined the methylation patterns in the skin tissues of Alpine Merino sheep with varying wool fiber diameters, finding that specific methylated RNAs linked to the Wnt, Notch, and TGF-ẞ signaling pathways may influence fiber diameter and potentially improve wool quality.
August 2024 in “Journal of Animal Science and Technology” This study identified specific keratin-associated protein genes that are highly expressed in different varieties and sexes of Angora goats, providing insights for improving mohair development through targeted breeding strategies.
November 2023 in “Animal Bioscience” This study found that miR-133a-3p and miR-145-5p influenced goat hair follicle stem cell differentiation by inhibiting NANOG expression and promoting SOX9 expression.
April 2018 in “Journal of Investigative Dermatology” This study found that kaempferol increased the proliferation potential of basal epidermal cells in three-dimensional skin models by enhancing integrin expression and altering cell morphology.
April 2018 in “Journal of Investigative Dermatology” This study found that elevated STAT5 levels are linked to improved hair-inducing capabilities in human dermal papilla cells, and reducing STAT5 impairs hair follicle induction.
April 2018 in “Journal of Investigative Dermatology” This study found that treating human dermal fibroblast cells with ginsenoside Rd increased the expression of mRNA associated with the dermal-epidermal junction, suggesting potential as an anti-aging cosmetic ingredient.
April 2018 in “Journal of Investigative Dermatology” This study found that TGFbeta is a key pathway causing age-related loss of dermal fat's antimicrobial function, suggesting that targeting TGFBR might help restore skin defense against infections in older age.
July 2020 in “Bioinformatics and Bioengineering” This study found that multiple genes and pathways, particularly several keratin-associated proteins, may be involved in the molecular pathogenesis of male androgenetic alopecia.