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December 2017 in “Journal of Pediatric and Adolescent Gynecology” Different diagnostic criteria greatly affect PCOS diagnosis rates in teenagers.
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May 2017 in “Journal of The American Academy of Dermatology” PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.
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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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December 2018 in “Inflammation and Regeneration” Phospholipase A2 enzymes play key roles in skin health and disease.
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May 2024 in “LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)” Certain gene combinations may affect prostate cancer risk, and GSTP1 methylation is linked to tumor aggressiveness.
April 2026 in “npj Parkinson s Disease” VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.
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February 2017 in “European journal of pharmaceutical sciences” The MPA-ISO cocrystal improved solubility and dissolution rate, while the others did not.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
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May 2021 in “Journal of Cell Science” N1-acetylspermidine promotes hair follicle stem cell self-renewal.
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September 2021 in “Journal of Medical Biochemistry” wAMD patients have higher oxidative stress, suggesting antioxidant treatment may help.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
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October 2025 in “Cells” PKM2 is a promising target for heart repair and regeneration.
April 2023 in “Journal of Investigative Dermatology” CD206+ macrophages are crucial for hair growth in alopecia areata treatment.
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February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
The paper suggests that a decrease in estrogen receptor activity may cause sexual dysfunction syndromes and proposes hormonal treatments.
November 2024 in “Journal of Investigative Dermatology” Bimekizumab quickly improves psoriasis symptoms and skin at the molecular level.
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November 2010 in “Human Reproduction” South Asian women with PCOS are more likely to have metabolic issues and central obesity, and simple measures like waist size and blood pressure can help identify these risks early.