September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” The Kras mutation changes normal cell signals, leading to disrupted tissue structure and potential cancer.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
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May 2000 in “Pediatric Dermatology” KID syndrome should be reclassified as an ectodermal dysplasia.
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March 2014 in “EMBO Reports” Protein ubiquitylation is crucial for controlling stem cell functions and could be targeted for cancer treatment.
May 2006 in “The Journal of Cell Biology” Keratin 17 is crucial for cell growth in wound healing by aiding protein synthesis.
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
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March 2019 in “Dermatologic therapy” Intralesional therapy for keratoacanthoma is effective and has fewer side effects than systemic treatments.
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September 2004 in “Clinical cancer research” BAY 43-9006 helps control kidney cancer growth but doesn't significantly increase overall survival.
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January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
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July 1988 in “Archives of Dermatological Research” Pili annulati is caused by a protein metabolism disorder affecting hair structure.
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August 1993 in “PubMed” Basal cell epithelioma likely starts from the hair follicle's outer root sheath.
186 citations
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December 2012 in “Current opinion in cell biology” Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
April 2017 in “Journal of Investigative Dermatology” Scientists can control how skin stem cells divide by using different treatments.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” Disrupting the Hars2 gene in mice causes hearing loss due to mitochondrial problems and hair cell damage.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
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March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
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August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
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January 2022 in “Indian dermatology online journal” Fine needle aspiration with rapid on-site evaluation is useful for diagnosing pilomatrixoma.
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January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
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January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
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January 2001 in “ACTA HISTOCHEMICA ET CYTOCHEMICA” Lysosomal proteases and cytoplasmic enzymes help hair follicle cells develop and differentiate.
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December 2015 in “The Journal of Cell Biology” Keratin is crucial for skin barrier formation and affects mitochondrial function.
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May 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Stem cells help remove dead cells to keep tissues healthy by balancing cell replacement and clearance.
March 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
11 citations
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August 2024 in “Nature Communications” Quiescent cells have increased mitochondrial activity and ECM gene expression, but reduced glycolysis.
10 citations
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July 1984 in “British Journal of Dermatology” Epidermal cysts come from the skin, while pilar cysts come from hair follicles.
November 2022 in “Journal of Investigative Dermatology” Autophagy in skin cells is important for preventing inflammation, skin tumors, and controlling hair growth timing.
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June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
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February 2012 in “InTech eBooks” CK7 and CK20 help identify and classify tumors for accurate cancer diagnosis.