5 citations
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February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
February 2026 in “The Laryngoscope” Airway issues can occur in Conradi–Hünermann–Happle syndrome and can be managed with minimally invasive procedures.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
53 citations
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January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
April 2017 in “Journal of Investigative Dermatology” The document concludes that various topical treatments show promise for skin conditions like atopic dermatitis, psoriasis, and hair loss.
24 citations
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January 2019 in “Theranostics” Loss of Pten in certain hair follicle stem cells increases skin cancer risk.
4 citations
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November 2016 in “Journal of Cutaneous Pathology” Three characteristics of plasmacytoid dendritic cells help tell apart lupus-related hair loss from LPP.
August 2024 in “British Journal of Dermatology” Rezpegaldesleukin shows promise for treating severe alopecia areata.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
September 2025 in “Genes” Certain gene variations in Jiangnan cashmere goats are linked to important traits like birth weight and fiber quality, useful for breeding.
51 citations
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January 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” Scientists discovered a unique hair protein, KAP24.1, with a special structure, found only in the upper part of hair cuticles.
5 citations
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March 2017 in “Gene” CAP1 decreases the expression of a hair-related protein in young Tan sheep's skin.
23 citations
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June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
November 2006 in “Hair transplant forum international” The document's conclusion cannot be summarized because the content is not available.
7 citations
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October 1985 in “Genetics Research” Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
January 2018 in “Skin appendage disorders” A woman's hair loss was correctly diagnosed as Lichen planopilaris after initial misdiagnosis, highlighting the usefulness of trichoscopy in diagnosing hair disorders.
8 citations
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September 2004 in “Contact dermatitis” Avoiding dyed wigs and clothing improved severe allergic reactions in a woman treated with diphencyprone.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
22 citations
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April 2013 in “International Journal of Dermatology” Frontal fibrosing alopecia can occur with lichen planus pigmentosus, needing careful diagnosis and treatment.
6 citations
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January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Esrp1 is important for skin health by helping form and maintain the skin barrier.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
13 citations
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September 2011 in “International Urology and Nephrology” September 2023 in “Journal of the American Academy of Dermatology”
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
5 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
June 2024 in “Indian Journal of Veterinary Medicine” The young goat had anaplasmosis and copper deficiency.
July 1995 in “Journal of Dermatological Science”
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.