148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
136 citations
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April 2010 in “British Journal of Dermatology” Acitretin is effective for severe skin conditions but has significant side effects and requires careful monitoring.
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January 2022 in “Biomaterials Science” RNA delivery is best for in-body use, while RNP delivery is good for outside-body use. Both methods are expected to greatly impact future treatments.
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December 2015 in “Development Growth & Differentiation” DHT is crucial for urethral formation, and its disruption can affect masculinization and lead to hypospadias.
15 citations
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March 2015 in “PloS one” Scientists restored fertility in male mice lacking a key fertility gene by using a modified gene.
10 citations
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January 2013 in “Regenerative Medicine Research” Rejuvenating self-repair mechanisms could improve organ recovery in regenerative medicine.
6 citations
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October 2024 in “Basic and Clinical Andrology” PRP injections are not proven effective for treating erectile dysfunction.
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January 2012 in “Indian Journal of Dermatology Venereology and Leprology” Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
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December 2006 in “Experimental Dermatology” Adipocytes have diverse roles in energy storage, protection, tissue repair, and influence health and disease.
January 2026 in “BMC Veterinary Research” A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
January 2024 in “Frontiers research topics” Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
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February 2001 in “Journal of Dermatological Science” p21waf1/cip1 and p27kip1 help in hair follicle differentiation in rats.
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March 2024 in “Food & Nutrition Research” A ketogenic diet helps reduce weight, BMI, waist size, and fat in overweight women with PCOS.
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February 2023 in “Lara D. Veeken” Satoyoshi syndrome is likely an autoimmune disease.
August 2022 in “Case reports” Isotretinoin effectively treated a rare scalp condition, but careful drug monitoring and a dairy-free diet were important.
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August 2024 in “Viruses” Long COVID is a complex condition with many symptoms and unknowns, needing more research.
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October 2020 in “International Journal of Molecular Sciences” PRP shows promise in treating joint and spine issues, but translating lab results to humans is challenging.
400 citations
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January 2014 in “British Journal of Sports Medicine” The consensus provided guidelines for treating the Female Athlete Triad and a system to decide when athletes can return to sports.
346 citations
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April 2020 in “Frontiers in Oncology” EMT and metabolic pathways help cancer cells resist treatment and spread.
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May 2018 in “EMBO journal” Phosphorylation controls TFEB's location in the cell, affecting cell metabolism and stress response.
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January 2022 in “Signal Transduction and Targeted Therapy” The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
292 citations
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April 2024 in “Nature Reviews Disease Primers” Early diagnosis and treatment of PCOS are crucial to reduce health risks and costs.
191 citations
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November 2007 in “Journal of Biological Chemistry” Very-long-chain acyl-CoA synthetases and fatty acid transport proteins play key roles in fatty acid metabolism and lipid processing in different tissues.
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February 2023 in “International Journal of Molecular Sciences” Flavonoids can help heal wounds effectively due to their beneficial properties.
164 citations
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February 2019 in “Anais Brasileiros de Dermatologia” Adult female acne requires personalized treatment and maintenance to prevent relapse.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
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September 2013 in “Advances in nutrition” Bariatric surgery can cause serious mineral deficiencies, requiring better patient education and monitoring.
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June 2023 in “Molecules” Skin pigmentation varies due to genetics, UV exposure, and drugs, with treatments available but requiring medical advice.
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August 2020 in “Cell stem cell” Dermal fibroblasts have adjustable roles in wound healing, with specific cells promoting regeneration or scar formation.