22 citations
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October 1996 in “Dermatologic clinics” This review summarizes recent advances in understanding intermediate filament structure and their implications for pathological mutations and human diseases, but it reports no new experimental results.
60 citations
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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.
1 citations
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April 2017 in “Journal of Investigative Dermatology” This proof-of-concept study reported that a new, ultra-fast, one-step immunohistochemistry method improved the interpretation of Mohs surgery slides, particularly for poorly differentiated tumors.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
17 citations
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November 2000 in “Journal of Investigative Dermatology” ZPK helps skin cells mature and may affect skin health.
6 citations
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June 2016 in “Journal of cellular biochemistry” This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.
8 citations
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June 2009 in “British Journal of Dermatology” Human melanocytes in skin and hair follicles don't express keratin 16 or 6 naturally.
5 citations
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December 1996 in “Biochemical and Biophysical Research Communications” In this study, keratin genes mHa1 and mHb4 were unable to form an extensive keratin network in one cell line, altering endogenous keratin distribution, but showed better integration in another cell line.
September 2016 in “Journal of Dermatological Science” This study found that epidermal-specific deletion of aPKCλ in mice disrupted hair follicle stem cell quiescence and regeneration, leading to abnormal hair cycling and skin changes.
2 citations
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January 2009 in “Human cell culture” 93 citations
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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.
70 citations
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December 2004 in “Differentiation” This study identifies six novel keratin genes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratin genes in the domain have been characterized transcriptionally.
26 citations
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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.
12 citations
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December 2013 in “Immunological Investigations” This study suggests that the 5’UTR SNP rs6457452 of HSPA1B may be associated with the onset of Alopecia Areata and reduced susceptibility in the Korean population.
January 2000 in “Acta Academiae Medicine Militaris Tertiae” This study found that the distribution of hair keratin family proteins varies in normal scalp hair follicles, which may aid in identifying the origin of hair neoplasms.
11 citations
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July 2010 in “European Journal of Dermatology” In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.
78 citations
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November 2005 in “Endocrinology” This study found that Hairless (Hr) acts as a corepressor of the vitamin D receptor (VDR) in human keratinocytes, blocking the action of vitamin D on keratinocyte differentiation.
December 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” The KDM1 gene helps Venus flytraps close by managing potassium ions.
18 citations
,
February 1992 in “Molecular Biology Reports” This study identified and characterized a murine type II hair keratin, demonstrating its presence in specific cells of hair and tongue tissues.
20 citations
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December 2010 in “Journal of Morphology” In this study, researchers found that alpha-keratin homologs similar to those in mammalian hair are present in the claws of the lizard Anolis carolinensis, suggesting a structural role during claw formation.
June 2026 in “Frontiers in Cell and Developmental Biology” This review synthesizes the diverse roles of the transcription factor LHX2 in development, tissue maintenance, and injury repair across various organ systems, highlighting its potential therapeutic applications and significance in regenerative medicine, particularly in developmental disorders and tissue regeneration.
79 citations
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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.
3 citations
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December 2013 in “Journal of Cell Science” This study found that K79+ keratinocytes migrate outward to help form the hair follicle lumen both during development and adult regeneration, revealing a novel mechanism of hair follicle formation in mice.
1 citations
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October 1988 in “Clinics in Dermatology” Scientists identified and cloned specific keratin proteins in mouse hair.
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.
77 citations
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March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
35 citations
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October 2002 in “Biochemical and Biophysical Research Communications” This study reports that K7 expression patterns observed in mice are similar to those in humans, revealing previously unreported expression in the gastrointestinal tract, tongue, and various "hard" epithelial tissues.
July 2024 in “Journal of Investigative Dermatology” Human hair follicles have their own thyroid hormone system.
27 citations
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April 2004 in “Biochemical and Biophysical Research Communications” In this study, two novel clusters of keratin-associated protein genes on human chromosome 11 were analyzed, suggesting their products are crucial for hair formation due to preferential expression in hair roots.
54 citations
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January 1995 in “Human Molecular Genetics” This study mapped monilethrix, a hereditary hair and nail disorder, to the type II keratin cluster on chromosome 12q, marking the first primary human hair disorder localization and implicating defects in "hard" keratins.