260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
January 2014 in “Repository KITopen (Karlsruhe Institute of Technology)” Autoimmune diseases need combined therapy of tolerance induction and immunosuppression.
2 citations
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May 2022 in “The journal of immunology/The Journal of immunology” BST2 protein and certain T cells increase in early alopecia areata.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
1 citations
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March 2012 in “Revue neurologique” Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
21 citations
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January 2013 in “Clinical Endoscopy” First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
January 2026 in “Journal of Crohn s and Colitis” High-dose IV iron is safe and effective for treating anaemia in IBD patients.
7 citations
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October 2008 in “Arthritis Care & Research” Aggressive immunosuppressive treatment improved a woman's severe heart condition linked to autoimmune disease.
May 2025 in “The Journal of Rheumatology” A rare lupus case in Bangladesh improved with specific treatment.
June 2025 in “Annals of the Rheumatic Diseases” Pregnant women with rheumatic diseases often have poor nutrition, needing more folic acid, calcium, and iron, while consuming too much selenium.
April 2024 in “Research Square” IBD patients treated with TNF antagonists may develop autoimmune alopecia areata, with severe cases less likely to improve.
June 2025 in “Journal of Biochemistry International” Early diagnosis and treatment of iodine deficiency in buffalo calves is crucial for their healthy growth.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
1 citations
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November 2018 in “immuneACCESS” Expanded CD8+ T cells are linked to Alopecia Areata and may cause relapse after treatment.
November 2022 in “Journal of the Endocrine Society” Excessive iodine from a cystic fibrosis supplement can cause hypothyroidism.
33 citations
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April 2002 in “Journal of Cutaneous Medicine and Surgery” Eating disorders can cause skin problems that need treating the underlying condition for better health.
August 2021 in “Journal of Investigative Dermatology” ILC1-like cells can cause alopecia areata by disrupting hair follicle immunity, suggesting a new treatment approach.
January 2007 in “Bristol Research (University of Bristol)” Epidermolysis bullosa in UK calves is not caused by mutations in keratin genes.
January 2013 in “International Journal of Trichology” Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
July 2024 in “Journal of Investigative Dermatology” CD8+ T cells expand significantly in alopecia areata, suggesting new treatment targets.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
October 2021 in “European Journal of Dermatology” CAL-PDT is safer and more effective for treating actinic keratosis on the scalp.
January 2018 in “Journal of Crohn s and Colitis” High-dose intravenous iron therapy doesn't interfere with treatment improvements in IBD patients with iron deficiency anemia.
August 2018 in “Journal of The American Academy of Dermatology” Children with alopecia areata should only get thyroid screening if they have Down syndrome, a family history of thyroid disease, atopy, or signs of thyroid problems.
ILC1-like cells can independently cause alopecia areata by affecting hair follicles.
1 citations
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January 2016 in “Journal of Nepal Paediatric Society” A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.