January 2009 in “IRIS UNIMORE (University of Modena and Reggio Emilia)” Neurosteroids from glia cells help control seizure development in epilepsy.
September 2023 in “Journal of the American Academy of Dermatology” 46 citations
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March 2005 in “Endocrinology” Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.
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July 2017 in “PubMed” Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
October 2021 in “QJM: An International Journal of Medicine” N-acetyl-cysteine improves hair growth and is safe for treating early male hair loss.
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
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November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
June 2023 in “Benha Journal of Applied Sciences” People with chronic hair shedding have lower antioxidant levels in their blood compared to healthy individuals.
December 2025 in “JGH Open” Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
October 2011 in “Reactions Weekly” A man had a severe allergic reaction to sulfasalazine, with symptoms improving after treatment and follow-up.
7 citations
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January 2011 Collagen XVIII is crucial for maintaining tissue structure and function in the brain, kidneys, and hair.
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
June 2020 in “Annals of the Rheumatic Diseases” Patients with Systemic Sclerosis have much higher levels of GDF-15, which could help predict organ involvement and guide treatment.
January 2014 in “Progress of Digestive Endoscopy” Prednisolone improved symptoms in a woman with Cronkhite-Canada syndrome, but regular screenings are needed due to cancer risk.
September 2024 in “Journal of the American Academy of Dermatology” Early intervention is important for limited systemic sclerosis patients due to higher pain and ulceration risks.
October 2009 in “The American Journal of Gastroenterology” Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
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January 1991 in “PubMed” Glucocorticoid treatment improved symptoms in a girl with Satoyoshi disease.
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July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
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December 2005 in “Traffic” Syntaxin 9 helps in transporting and signaling of the EGF receptor in skin and stomach cells.
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
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April 2024 in “Clinical Medicine” Timely diagnosis and aggressive treatment with high-dose steroids and B-cell depletion therapies are effective for severe acute cutaneous lupus.
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August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
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January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
January 2025 in “JCEM Case Reports” Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.
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October 2023 in “Philosophical transactions - Royal Society. Biological sciences” Enzymes that change arginine to citrulline are important for skin barrier and hair formation, and their malfunction can lead to skin conditions and hair disorders.
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November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
1 citations
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June 2019 in “Current developments in nutrition” A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.