A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
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.
February 2026 in “Pharmaceuticals” KRDQN effectively predicts adverse drug reactions with high accuracy and clear explanations.
1 citations
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November 2023 in “Rice” PRX102 is essential for rice root hair growth by helping transport substances to the tips.
September 2025 in “International Journal of Pharmacy and Biomedical Engineering” Drug repurposing finds new uses for existing drugs, speeding up treatment availability and reducing costs.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
April 2017 in “Journal of Investigative Dermatology” HPH-15, a new compound, effectively reduces skin fibrosis in experiments without causing harm.
February 2025 in “Biointerface Research in Applied Chemistry” Repurposing existing drugs can quickly and cheaply find new treatments for diseases.
June 2026 in “Mendeley Data” June 2026 in “Mendeley Data” 14 citations
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July 2021 in “Bioinformatics” rPanglaoDB helps study rare cell types by merging RNA data, showing fibrocytes aid in healing.
10 citations
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September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
May 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” rPanglaoDB helps study rare cell types by merging RNA data, confirming fibrocytes' role in healing.
12 citations
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May 2023 in “Molecules” Polygoni Cuspidati Rhizoma et Radix contains compounds that inhibit certain enzymes.
42 citations
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January 2018 in “Expert review of precision medicine and drug development” Drug repositioning is becoming more targeted and efficient with new technologies, offering personalized treatment options and growing interest in the field.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
December 2023 in “Biointerface Research in Applied Chemistry” Stiripentol shows promise as a potential treatment for androgen-related diseases but needs more testing.
9 citations
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August 2023 in “Molecules” Two peptides, RMYYY and VMYMI, may be effective anti-inflammatory drugs.
1 citations
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September 2021 in “Cureus” The rs1128977 gene variant may affect cholesterol and body measurements.
December 2025 in “Zenodo (CERN European Organization for Nuclear Research)” Current drug safety systems fail to detect long-term side effects, needing improvements to protect health and trust.
February 2026 in “Toxicology Letters” MK-0773 is a moderate inhibitor of the SRD5A2 enzyme.
4 citations
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January 2019 in “Elsevier eBooks” Finding new uses for existing drugs is promising and can lead to safer, more effective medicines.
1 citations
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May 2001 in “Journal of Labelled Compounds and Radiopharmaceuticals” Scientists at the University of Michigan Medical School successfully created a special compound that can be used to improve imaging of prostate cancer.
10 citations
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October 2014 in “Journal of Ovarian Research” The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.
November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
The study improved and was accepted despite initial concerns about data clarity, methodology, and potential overfitting.
4 citations
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July 2020 in “Research Square (Research Square)” The research helps understand how finasteride works and aids drug development.
May 2026 in “ACS Catalysis” Efficient enzyme function relies on specific residue interactions and structural coordination.