January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
May 2023 in “Spectrochimica Acta Part A: Molecular and Biomolecular Spectroscopy” A new green method accurately measures finasteride and tadalafil in drugs and plasma.
21 citations
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October 2009 in “European Journal of Pharmaceutical Sciences” Three new finasteride solvates found, change forms under different drying conditions.
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.
26 citations
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April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
January 2020 in “International Journal of Research in Pharmacy and Chemistry” A reliable method was created to measure dutasteride and related molecules in capsules.
January 2002 in “映像情報メディア学会技術報告” Some prostate cancers have gene changes that may affect treatment with certain drugs.
February 1999 in “Analytical Sciences” A new antiandrogen compound was made and its detailed three-dimensional shape was described.
June 2024 in “International Journal of Pharmaceutical Quality Assurance” The method accurately and quickly measures silodosin and dutasteride in mixtures.
2 citations
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July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
April 2016 in “The Journal of Sexual Medicine” 8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
June 2018 in “The Journal of Sexual Medicine” Finasteride helps female-pattern hair loss.
1 citations
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January 2025 in “Frontiers in Oncology” REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
2 citations
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July 2015 in “Case Reports in Dermatology” DDS treatment for LABD can cause severe side effects like anemia and hair loss, requiring careful monitoring.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
March 2026 in “Preprints.org” DRDE-07 shows promise for treating skin diseases due to its favorable properties.
January 2024 in “Wiadomości Lekarskie” DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
August 2016 in “Journal of Investigative Dermatology” 1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
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.
66 citations
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August 2007 in “Applied and environmental microbiology” The engineered yeast strain BLYAS can quickly and sensitively detect androgenic chemicals.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
11 citations
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December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
January 2004 in “Analytical Sciences: X-ray Structure Analysis Online” The document explains how to make a compound called 3.BETA.-Benzoyloxy-4-pregnen-16.ALPHA.,17.ALPHA.-epoxy-6,20-dione and describes its crystal structure.
46 citations
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October 2012 in “Seminars in reproductive medicine” Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.