28 citations
,
November 2018 in “Journal of Cellular and Molecular Medicine” This review discusses the role of the CXXC5 protein as a transcription factor and signaling coordinator, noting its involvement in embryonic development, tissue homeostasis, and diseases such as tumorigenesis, but reports no new experimental findings.
16 citations
,
January 2005 in “The International Journal of Developmental Biology” This study found that Hex gene expression patterns in chick embryo dorsal skin during feather bud development suggest a significant role in initiating feather morphogenesis.
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.
6 citations
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March 1996 in “Journal of Investigative Dermatology” 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.
2 citations
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April 2008 in “PubMed” This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.
January 2015 in “Elsevier eBooks” This chapter reviews the recent understanding of carbonic anhydrase VI's functions, including its role in biological processes, but presents no new experimental results.
This study found that collagen VI is crucial for peripheral nerve function and regeneration, and its absence promotes abnormal hair regrowth after skin wounding in mice, revealing potential therapeutic targets for nerve injuries and hair loss.
49 citations
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October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
10 citations
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January 2003 in “Dermatology” This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
13 citations
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July 1994 in “PubMed” This study found that TPA treatment induced expression of keratins K6 and K16 in mouse epidermis, with K6 expressed across all cell layers and K16 only in post-mitotic cells.
25 citations
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September 1995 in “Biochemistry and Cell Biology” This study found that high levels of human cytokeratin 16 expression in transgenic mice lead to skin lesions and altered keratinocyte structure, suggesting potential implications for human skin disorders and wound healing.
15 citations
,
September 2002 in “Journal of Biological Chemistry” This study observed that transgenic mice expressing keratin K10 under bovine K6beta control developed severe oral abnormalities, suggesting keratin composition changes can affect the physiology of epithelial cells, especially in the oral mucosa.
19 citations
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December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” This study on Sdr16c5/Sdr16c6-null mice found that inactivating these genes significantly increased Meibomian gland secretions and altered lipid profiles but had a subtle impact on sebogenesis, suggesting the genes control a bifurcation point in meibogenesis pathways.
57 citations
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January 1987 in “Journal of Biological Chemistry” This study identified and sequenced several keratin cDNA clones showing distinct expression patterns in mouse epithelia, with in situ hybridization highlighting differences in keratin distribution between normal and hyperproliferative tissues.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
99 citations
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March 2013 in “Journal of Investigative Dermatology” This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
79 citations
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June 1993 in “Molecular and Cellular Biology” This study found that as few as 90 base pairs of the K5 promoter directed keratinocyte-preferred expression in stratified epithelia, especially in epidermis, hair follicles, and tongue, showing cell type specificity.
2 citations
,
August 2021 in “Animal Cells and Systems” This study suggests that egfl6 expression in the pharyngeal pouches is not essential for craniofacial development in zebrafish.
133 citations
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June 1993 in “Molecular and Cellular Biology” This study found that a truncated region of the K5 promoter directs expression in stratified epithelia, particularly in epidermis, hair follicles, and tongue, potentially involving specific keratinocyte nuclear proteins in regulation.
March 2026 in “World Rabbit Science” This study found that overexpression and knockdown of DKK4 influence genes involved in hair follicle growth and development in Angora rabbits and identified specific SNPs in DKK4 associated with wool quality, notably showing that the TT/GG haplotype combination relates to higher fibre diameters.
12 citations
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July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that conditional deletion of CD271 in mouse epidermis led to significant disorganization and increased thickness, suggesting CD271's crucial role in regulating skin differentiation and structure.
January 2011 in “Anhui nongye kexue” This study reports that the recombinant expression vector pcDNA3.1-KK demonstrates specific expression in the skin of newborn mice.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that CTCF is crucial for proper skin and hair follicle development in mice, affecting keratinocyte differentiation and gene expression in keratin loci.
4 citations
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August 2013 in “Chinese Medical Journal” This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.
15 citations
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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.
4 citations
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May 1998 in “PubMed” This study found that the Bsk phenotype in mice did not result from a recombination event between specific keratin genes, leaving the gene linked to this mutation unidentified.