16 citations
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
341 citations
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November 2009 in “The FASEB Journal” Calreticulin has roles in healing, immune response, and disease beyond its known functions in the endoplasmic reticulum.
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January 1993 in “Journal of Investigative Dermatology”
13 citations
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January 1963 in “Radiation Research” X-ray microbeams can mimic cosmic rays' effects on tissue, aiding wound healing and hair growth.
Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.
47 citations
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September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
May 2026 in “Journal of Human Immunity” Ruxolitinib reduced inflammation and improved symptoms in APECED patients but may cause anemia and weight gain.
9 citations
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June 2023 in “Human Genomics” MX1 and AR genes are linked to milder COVID-19, while TMPRSS2 increases severe risk, especially in women.
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May 1998 in “PubMed” The retinoid receptor antagonist effectively disrupts vitamin A-related development in embryos.
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July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
3 citations
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October 2019 in “EMBO molecular medicine” Targeting NCoR1 can help treat heart enlargement and dysfunction.
January 2025 in “EXPERIMENTAL ANIMALS” Gamma-ray exposure improves genome editing efficiency in mice using the i-GONAD method.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
21 citations
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March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
63 citations
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December 1998 in “Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology” The study improved understanding of keratin fiber structure by showing consistent microfibril diameter but varying distances and electron density profiles.
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January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
1 citations
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April 2015 in “InTech eBooks” RAGE is a potential target for melanoma treatment, but its effectiveness is uncertain due to variable expression levels.
18 citations
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February 2015 in “Acta Crystallographica Section D: Structural Biology” The study concludes that certain domains in Clostridium histolyticum enzymes are structurally unique, bind calcium to become more stable, and play distinct roles in breaking down collagen, with potential applications in medicine and drug delivery.
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November 2015 in “Plastic and reconstructive surgery/PSEF CD journals” Gene knockout mice developed scars similar to human hypertrophic scars, useful for studying scar progression.
April 2024 in “Anais Brasileiros de Dermatologia” June 2026 in “Strathprints: The University of Strathclyde institutional repository (University of Strathclyde)” Topical IKKα inhibitors may help prevent CCS tumours.
100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
January 2014 in “eScholarship (California Digital Library)” Toll-like receptor 3 helps repair the skin barrier after UV damage.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
September 2025 in “PeerJ” FCER1A and RGS1 may help diagnose and treat systemic lupus erythematosus.
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
3 citations
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February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
July 2025 in “Journal of Investigative Dermatology”