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April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
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November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
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May 2025 in “Frontiers in Medicine” Dual-targeted therapy is effective and safe for difficult-to-treat inflammatory bowel disease.
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November 2015 in “Annals of the New York Academy of Sciences” Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
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April 2017 in “Journal of Cosmetic Dermatology” Ficus carica leaf extract may help treat skin disorders by reducing inflammation and androgen effects in skin cells.
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March 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
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The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
Blocking CXCR4 may help treat hidradenitis suppurativa.
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March 2018 in “Journal of labelled compounds & radiopharmaceuticals” A new compound was effective for imaging prostate cancer in rats.
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Variant G of the KRTAP20-1 gene improves wool curliness in Chinese Tan sheep.