December 2021 in “Figshare” BBS7 is essential for healthy gums by supporting cell function and blood flow.
January 2025 in “Analytical Methods” A new fluorescent material can detect dextran sulfate sodium, turning green when present, useful for forensic and environmental monitoring.
June 2019 in “Reactions Weekly”
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
June 2024 in “International Journal of Pharmaceutical Quality Assurance” The method accurately and quickly measures silodosin and dutasteride in mixtures.
4 citations
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August 2021 in “Pediatrics in review” DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
February 2023 in “Zenodo (CERN European Organization for Nuclear Research)” August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
June 1996 in “Journal of Dermatological Science” 41 citations
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March 2016 in “The Journal of Clinical Endocrinology & Metabolism” In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
February 1999 in “Analytical Sciences” A new antiandrogen compound was made and its detailed three-dimensional shape was described.
July 2025 in “Journal of Investigative Dermatology” 5 citations
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January 2024 in “Crystals” The salts have diverse molecular packing with significant hydrogen interactions.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
January 2024 in “Wiadomości Lekarskie” DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
48 citations
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January 2003 in “Fertility and Sterility” There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
April 2021 in “JAMA Dermatology” The document could not be processed due to an error in the author's last name.
December 2023 in “International Journal of Dermatology” February 2026 in “Toxicology Letters” MK-0773 is a moderate inhibitor of the SRD5A2 enzyme.
September 2024 in “Journal of the American Academy of Dermatology” January 2021 in “Figshare” Finasteride's molecular properties and active sites were identified using computational methods.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
July 2023 in “Media Dermato Venereologica Indonesiana” Vitamin D supplements should be used cautiously in sarcoidosis patients, with regular monitoring to avoid high calcium levels.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
3 citations
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August 2010 in “Letters in Drug Design & Discovery” July 1999 in “Journal of the American Academy of Dermatology”