5 citations
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July 2021 in “Endocrinology, diabetes & metabolism” Glioblastoma cells can make androgens, which might help the tumor grow.
March 2017 in “Zenodo (CERN European Organization for Nuclear Research)” L. plantarum MTCC 1325 may help improve memory and cognitive functions in Alzheimer's.
August 2023 in “Gastroenterology” A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
December 2019 in “Saintika Medika” A woman with lupus also developed a severe skin condition linked to a genetic factor.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
January 2026 in “Molecules” A new perming method is less damaging to hair and works as well as traditional methods.
3 citations
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October 2025 in “Cancer” PROTACs offer a new, precise way to treat cancer by breaking down harmful proteins.
2 citations
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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.
December 2025 in “JGH Open” Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
3 citations
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April 2015 in “Current problems in dermatology” A more sensitive assay was developed to detect enzyme activity converting arginine to citrulline in hair follicles.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
138 citations
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November 1977 in “Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics” A new genetic mutation was found causing hair and eye issues in a boy.
11 citations
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September 2015 in “Theriogenology” Testosterone boosts fluid and electrolyte secretion in seminal vesicles, aiding sperm function.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
January 2026 in “Quality in Sport” Semaglutide may help some skin disorders but can also cause skin issues.
4 citations
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December 1962 in “European journal of endocrinology” Alloxan diabetes, methylthiouracil, cortisone, and adrenaline affect how white mice hair follicles use glucose and cystine and their cell division.
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
39 citations
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July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
72 citations
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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.
18 citations
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November 2018 in “Annals of the Academy of Medicine Singapore” Sulfasalazine can cause severe allergic reactions leading to long-term autoimmune issues like hair loss and skin discoloration.
April 2015 in “Journal of Nutritional Therapeutics” Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
3 citations
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January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
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.
December 2016 in “Journal of Evolution of Medical and Dental Sciences” Chronic Acrodermatitis Enteropathica can persist into adulthood and requires careful zinc treatment.
1 citations
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
16 citations
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
1 citations
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
Individualized treatments may help manage Dercum's disease symptoms.