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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
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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.
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June 2015 in “PLANT PHYSIOLOGY” OsPHR3 can help breed rice that efficiently uses phosphate without growth issues.
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January 2012 The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
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December 2019 in “Al-ʻulūm al-ṣaydalāniyyaẗ” The CTLA-4 gene change studied does not affect Polycystic Ovarian Syndrome in the women tested.
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March 2013 in “Nature Communications” A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
October 2011 in “Reactions Weekly” A man had a severe allergic reaction to sulfasalazine, with symptoms improving after treatment and follow-up.
April 2024 in “Journal of pharmacy & pharmacognosy research” A compound from Calophyllum inophyllum L. leaf may help treat non-small cell lung cancer.
May 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” rPanglaoDB helps study rare cell types by merging RNA data, confirming fibrocytes' role in healing.
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
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July 2009 in “Optics express” Researchers created a new light source that improves chemical imaging by removing background noise.
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June 2020 in “Annals of the rheumatic diseases” Most patients successfully switched from the original adalimumab to a biosimilar with few reverting due to reduced effectiveness or side effects.
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January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
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May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
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February 2004 in “Clinical and Experimental Ophthalmology” The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
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June 2015 in “Journal of photochemistry and photobiology. B, Biology” The new lab-grown skin model is good for testing sunscreen's protection against DNA damage from UV light.
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July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
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September 1983 in “Archives of dermatology” The new synthetic retinoid RO 13-6298 effectively treated severe psoriasis at low doses with manageable side effects.
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June 2018 in “Internal Medicine” Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.