June 2020 in “Journal of Investigative Dermatology” The symposium highlighted the importance of genetics in understanding and treating complex skin diseases.
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.
13 citations
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March 1999 in “Biochemical Journal” Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
22 citations
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May 2010 in “Journal of Pediatric Gastroenterology and Nutrition” Trichobezoars can cause serious health issues like biliary obstruction, and treatment includes surgery and therapy to prevent recurrence.
6 citations
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August 2024 in “Biomacromolecules” The model helps test drugs for clubfoot fibrosis by mimicking cell environments and shows minoxidil reduces harmful collagen links.
2 citations
,
January 1990 in “Leukemia & Lymphoma” The combination of mitoxantrone, etoposide, and prednisolone is effective for treating relapsed lymphoma with manageable side effects.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
October 2025 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Waldenstrom’s Macroglobulinaemia can mimic multiple myeloma, so accurate diagnosis is crucial.
22 citations
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September 2017 in “Skin appendage disorders” Ruxolitinib helped a man regrow his beard after years of hair loss.
18 citations
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January 2009 in “Experimental Dermatology” mTOR may link different pathways in hair follicle tumor formation.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Exosome therapy shows promise for hair loss but needs more research on safety and effectiveness.
Spiny mice have resilient, large mitochondria that help them regenerate tissue.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
25 citations
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September 2014 in “SpringerPlus” Sheep have a unique gene, KAP8-2, that humans don't have, which may affect wool properties.
6 citations
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January 2008 in “Indian Journal of Dermatology” Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
July 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature”
11 citations
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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
September 2014 in “Emergency Medicine News” The man's skin condition improved with sun protection and topical steroids, but UV exposure still caused flare-ups.
October 2004 in “Australian Prescriber” Agalsidase alfa helps treat Fabry's disease but needs more research for long-term benefits.
10 citations
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July 2016 in “Clinical and translational science” Sorafenib often causes mucositis, hand-foot syndrome, rash, alopecia, diarrhea, and fatigue.
2 citations
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January 2025 in “Journal of Nanobiotechnology” A new engineered treatment shows promise in curing heart fibrosis.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
January 2026 in “Clinical Case Reports” A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.
Recognize Rapunzel syndrome in children with unexplained stomach issues for timely treatment.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
13 citations
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January 2013 in “Applied and Environmental Microbiology” A gene in Sebekia benihana, CYP-sb21, is needed for a specific reaction on the drug Cyclosporine A, which could be important for hair growth without affecting the immune system.
2 citations
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November 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Oral tofacitinib can treat both psoriasis and alopecia universalis by normalizing inflammatory pathways.
1 citations
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October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.