2 citations
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September 2021 Patients with alopecia areata may have lower vitamin D levels than healthy people.
6 citations
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December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
May 2024 in “European Journal of Immunology” Vitamin B5 and coenzyme A may help regulate the immune system and could improve treatments for chronic diseases and cancer.
26 citations
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January 1993 in “Dermatology” A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
10 citations
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November 2019 in “Journal of the European Academy of Dermatology and Venereology” The RAS pathway affects hair growth differently in CFCS and CS.
31 citations
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November 2015 in “PloS one” Reducing Tyrosinase prevents mature color pigment cells from forming in mouse hair.
17 citations
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November 1982 in “Annals of Internal Medicine” 5-aminosalicylic acid enemas may cause hair loss.
3 citations
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December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
August 2023 in “Dermatology Reports” Acne not improved by usual treatments may indicate a genetic disorder.
12 citations
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January 2013 in “Indian Journal of Dermatology” Monilethrix is a rare genetic hair disorder that's hard to treat.
11 citations
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November 1991 in “Journal of Neuropathology & Experimental Neurology” Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
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.
64 citations
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March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
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.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
14 citations
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October 2018 in “PloS one” Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
December 2022 in “Gastroenterology” A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
15 citations
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May 2014 in “Journal of Biological Chemistry” A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.
PIKFyve is essential for normal platelet function and its deficiency causes organ issues and macrophage infiltration.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
2 citations
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May 2011 in “Pigment Cell & Melanoma Research” Collagen XVII is crucial for preventing hair and pigmentation loss by maintaining melanocyte stem cells.
February 2019 in “Americanae (AECID Library)” Selenium and zinc deficiency in sheep leads to thyroid and skin problems.
22 citations
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February 2004 in “Journal of pediatric gastroenterology and nutrition” Children with severe ichthyosis and growth failure rarely have nutritional deficiencies or gastrointestinal issues, but may experience chronic dehydration.