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.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
2 citations
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
1 citations
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September 2024 in “Porto Biomedical Journal” Early and accurate diagnosis of primary vitreoretinal lymphoma is crucial to prevent serious complications.
3 citations
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March 2014 in “Journal of Industrial Microbiology & Biotechnology” Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.
3 citations
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January 2022 in “Burns & Trauma” CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
1 citations
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October 2010 in “Proceedings of SPIE, the International Society for Optical Engineering/Proceedings of SPIE” The skin fully recovered after using the optical clearing agent, showing no long-term harm.
34 citations
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March 2007 in “Biochemical and Biophysical Research Communications” Thioredoxin reductase 1 does not affect glucocorticoid receptor activity in hair follicle cells.
December 2023 in “Biological & pharmaceutical bulletin” IPM enhances skin penetration of hydrophilic drugs.
September 2018 in “Journal of the American Academy of Dermatology” Elderly patients with CCCA were all African American with low vitamin D, but no iron or zinc deficiencies, and no hormonal imbalances compared to younger patients.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific group of early-stage melanocytes is reduced in vitiligo-affected skin, which may explain treatment resistance.
6 citations
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August 2004 in “Journal of Chemical Information and Computer Sciences” The research found a link between certain molecular features and the biological activity of BC3, which can help identify or create new active compounds.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
Defective protein folding due to a mutation is key in ANE syndrome.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.
May 2025 in “Cermin Dunia Kedokteran” Leukokoria can signal Coats disease or other retinal issues, requiring early detection to prevent severe outcomes.
1 citations
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October 2019 in “International Journal of Dermatology and Venereology” Zebrafish help understand genetic causes of skin pigment disorders like albinism.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
Newer retinoid drugs are effective for skin conditions but have significant side effects.
153 citations
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November 2004 in “Current Medicinal Chemistry” The document concludes that Catalyst software is effective for drug design, identifying potent compounds for various medical conditions.
81 citations
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October 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genes control the color of human hair by affecting pigment production.
11 citations
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May 2012 in “Genesis” Bmpr2 and Acvr2a receptors are crucial for hair retention and color.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
99 citations
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July 2012 in “PLoS Genetics” A mutation in the KRT75 gene causes frizzle feathers in chickens.
822 citations
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January 2021 in “Genome biology” scMC effectively separates biological signals from technical noise in single-cell genomics data.
June 2024 in “Journal of the European Academy of Dermatology and Venereology” Allergens might contribute to CCCA, so avoiding them could help manage the condition.
9 citations
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August 2017 in “Photochemistry and Photobiology” Red light at 627 nm can safely trigger IL-4 release in skin cells, potentially helping treat inflammatory skin conditions.
30 citations
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October 2009 in “Journal of Veterinary Internal Medicine” A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.