53 citations
,
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.
January 2018 in “ScholarWorks @UVM (University of Vermont)” Selenium in proteins helps prevent over-oxidation and supports chemical reversibility.
October 2025 in “Advanced Materials” New lipid/fiber microplexes improve mRNA therapy for degenerative diseases by enhancing cell function and treatment effectiveness.
2 citations
,
November 2024 in “AAPS PharmSciTech” Spanlastic formulations improve rivaroxaban's oral anticoagulation efficiency.
3 citations
,
January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
107 citations
,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
9 citations
,
November 2004 in “Bioorganic & Medicinal Chemistry Letters” New compounds were made that effectively block enzymes related to prostate issues and hair loss.
4 citations
,
March 2025 in “The Journal of Dermatology” Ritlecitinib is effective and safe for hair regrowth in Asian patients with alopecia areata.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
January 1993 in “Journal of International Medical Research” The document corrects errors in previous articles, including a reversed term, updated subject weights, hair count data, and reference numbering.
Ion sequential therapy improves heart function after a heart attack.
19 citations
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February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
246 citations
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February 2021 in “Trends in Pharmacological Sciences” Drug repurposing offers a faster, cheaper way to find treatments for rare diseases.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
3 citations
,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
24 citations
,
November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
11 citations
,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
April 2017 in “Journal of Investigative Dermatology” The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
August 2008 in “European Neuropsychopharmacology” RY-023, a specific drug, can improve early stage memory learning without affecting general activity in rats, but it's less effective for later learning stages and doesn't impact memory recall.
July 2024 in “Reactions Weekly”
2 citations
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July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
8 citations
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December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
November 2010 in “Value in Health” Using a call center to collect data in a trial for eye disease in diabetics led to high response rates and very little missing information.
January 2024 in “Research Square (Research Square)” A specially designed molybdenum oxide nanozyme can treat and monitor acute kidney injury effectively.
8 citations
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October 2022 in “International Journal of Molecular Sciences” Self-amplifying RNA could be a better option for protein replacement therapy with lower doses and lasting effects, but delivering it into cells is still challenging.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
4 citations
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January 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” PrrH sRNA controls pyochelin gene expression in Pseudomonas aeruginosa based on heme levels.
January 2019 in “Springer eBooks” Modified HDL can better deliver drugs and genes, potentially improving treatments and reducing side effects.
3 citations
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February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
14 citations
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March 2022 in “Plant Cell & Environment” The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.