3 citations
,
January 2023 in “American journal of physiology. Cell physiology” This editorial reviews the roles and therapeutic potential of inward rectifying K+ channels in various physiological processes, highlighting their importance in health and disease but provides no new experimental results.
8 citations
,
September 2013 in “Molecular carcinogenesis” This study found that rapamycin effectively inhibits TPA-induced keratinocyte proliferation and skin tumor promotion by targeting mTORC1 signaling in both wild-type and transgenic mice.
29 citations
,
February 2001 in “Proceedings of the National Academy of Sciences” This study found that the HS III element in the K14 gene's regulatory sequence promotes gene expression in inner root sheath keratinocytes, highlighting cooperative interactions in keratinocyte-specific gene regulation.
119 citations
,
August 2008 in “BMC Evolutionary Biology” This study found that while the KRTAP gene family is unique to mammals, humans have a similar number of these hair gene types as other primates despite having less body hair.
15 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies KLK14 as a significant factor contributing to hair defects and skin inflammation in a mouse model of Netherton syndrome.
45 citations
,
March 2001 in “Journal of Investigative Dermatology” This study identified a new cytokeratin, mK6irs, specifically expressed in the inner root sheath of mouse hair follicles, distinguishing it as a member of the type II cytokeratin family.
July 2024 in “Journal of Investigative Dermatology” This study found that systemic treatment with DS77754007, a KLK5 inhibitor, improved skin symptoms in a mouse model of Netherton Syndrome more effectively than certain antibody treatments, suggesting KLK5 inhibition as a promising therapeutic approach for this condition.
January 1999 in “Journal of the European Academy of Dermatology and Venereology” RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
March 2023 in “JAAD case reports” This article reviews the genetic foundations of keratins in maintaining epithelial tissue integrity and links specific keratin variants to diverse ichthyosis forms, without presenting new clinical findings.
1 citations
,
December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
August 2009 in “Mechanisms of Development”
99 citations
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July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the loss of SETDB1 in epidermal keratinocytes led to altered chromatin states, increased ERV expression, and activation of immune responses, while inhibiting these effects with certain antiviral drugs reduced skin inflammation and hair loss in a mouse model.
215 citations
,
November 2000 in “Journal of Investigative Dermatology” This study found that the tetracycline-regulated transcription system effectively controls conditional gene expression in the mouse epidermis, allowing suppression and activation of specific genes with doxycycline.
9 citations
,
September 2019 in “PLoS ONE” This study demonstrated that keratin K124 is specific to equine hoof lamellar tissue and established monoclonal antibodies that can specifically recognize K124 without cross-reacting with other tissues.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” This study demonstrated that RNA interference targeting mutant keratin genes can effectively correct hair shaft structural defects in a mouse model by reducing mutant gene expression.
4 citations
,
October 2021 in “Scientific Reports” This study found that NKIRAS2 expression affects skin tumor suppression and HRAS-driven transformation in mice, indicating its role in carcinogenesis depends on expression level and cellular context.
May 2006 in “The Journal of Cell Biology” In this study, researchers at Johns Hopkins University found that Keratin 17 plays a signaling role in cell growth during a wound response by aiding mTOR pathway activation, beyond its structural functions.
July 2022 in “Journal of Investigative Dermatology” This study found that Dkk4-knockout mice exhibited disrupted hair follicle patterning, including a lack of the first wave of hair follicles in the lateral back skin.
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.
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.
93 citations
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April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified an unexpected critical role for the FATP4 protein in skin and hair development in mice, linking it to a potential candidate gene for restrictive dermopathy in humans.
29 citations
,
July 2015 in “Journal of Medical Genetics” This study identified a new gene involved in woolly hair by linking a homozygous variant in KRT25 to autosomal recessive woolly hair in two Pakistani families.
6 citations
,
April 2005 in “Journal of dermatological science” This study identified the expression sites of five KAP5 genes on human chromosome 11q13.5 in scalp skin sections but did not explore their detailed distribution within hair follicles.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
32 citations
,
January 2020 in “Journal of Molecular Histology” This research identified K31 as a new marker for distinguishing clear secretory cells in human eccrine sweat glands, aiding in differentiating between distinct cell types within these glands.
January 1993 in “Nihon Chikusan Gakkaiho” This research found that a monoclonal antibody (MAb 17) specifically reacts with certain subunits of trichocyte keratin in rats, and discovered that trichocyte keratin expression in hair and whiskers begins at different embryonic stages.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
76 citations
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January 1998 in “Mammalian Genome”