3 citations
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March 2021 in “Indian Journal of Rheumatology” Remote monitoring of chronic diseases like dermatomyositis is challenging and needs better tools for early detection and patient education.
15 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
109 citations
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September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
2 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
2 citations
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April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
December 2024 in “Pediatrics in Review” Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
1 citations
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June 2025 in “Journal of Veterinary Internal Medicine” The donkey had a severe disease affecting multiple organs and was euthanized.
2 citations
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March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
The EMG-to-force model accurately predicts hip muscle forces during walking.
64 citations
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November 2012 in “EMBO reports” Lamins are vital for cell survival, organ development, and preventing premature aging.
9 citations
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December 2015 in “Journal of Dermatological Case Reports” Narrowband UVB therapy significantly improved a child's rare skin condition.
33 citations
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September 2020 in “Current Rheumatology Reports” Targeting adipocyte-to-mesenchymal transition could help treat fibrosis.
33 citations
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December 1982 in “Developmental Medicine & Child Neurology” Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
December 2019 in “Mehmet Akif Ersoy Üniversitesi Sağlık Bilimleri Enstitüsü dergisi” One cat with low thyroid hormone had growth issues, and another with high thyroid hormone had skin problems; both got better with treatment.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
1 citations
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January 2022 Autoimmune Polyendocrine Syndromes involve specific combinations of endocrine and non-endocrine autoimmune diseases.
12 citations
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December 2021 in “Fundamental Research” Blebbistatin can reduce fibrosis by targeting myofibroblast contraction.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
13 citations
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July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
September 2023 in “Journal of the American Academy of Dermatology” Bullous pemphigoid can look like erythema multiforme, so awareness is needed for proper treatment.
1 citations
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January 2017 in “Tohoku journal of experimental medicine” A woman's mature cystic teratoma caused her virilization by producing testosterone.
January 2024 in “Brazilian Journal of Veterinary Pathology” The horse had a rare disease causing weight loss and skin issues, leading to euthanasia due to poor treatment options.
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.
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
5 citations
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August 1983 in “PubMed” DNA virus-induced tumors have consistent isozyme profiles, unlike other tumor types.