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Transport and inhibition mechanism for human TauT-mediated taurine uptake.
Cell Res
January 2025
Eye & ENT Hospital, Institutes of Biomedical Sciences,Department of Systems Biology for Medicine, Shanghai Key Laboratory of Medical Epigenetics, Fudan University, Shanghai, China.
Understanding cataract development in axial myopia: The contribution of oxidative stress and related pathways.
Redox Biol
January 2025
Department of Ophthalmology, Kornel Gibiński University Clinical Center, Medical University of Silesia, Katowice, Poland; Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland; GlaucoTech Co, Katowice, Poland.
Myopia is an evolving global health challenge, with estimates suggesting that by 2050 it will affect half of the world's population, becoming the leading cause of irreversible vision loss. Moreover, myopia can lead to various complications, including the earlier onset of cataracts. Given the progressive aging of the population and the increase in life expectancy, this will contribute to a rising demand for cataract surgery, posing an additional challenge for healthcare systems.
View Article and Find Full Text PDFDNA methylation biomarkers and myopia: a multi-omics study integrating GWAS, mQTL and eQTL data.
Clin Epigenetics
November 2024
School of Public Health, The Fourth Affiliated Hospital of Soochow University, Suzhou Medical College of Soochow University, Suzhou, China.
Background: This study aimed to identify DNA methylation biomarkers associated with myopia using summary-data-based Mendelian randomization (SMR).
Methods: A systematic search of the PubMed, Web of Science, Cochrane Library, and Embase databases was conducted up to March 27, 2024. SMR analyses were performed to integrate genome-wide association study (GWAS) with methylation quantitative trait loci (mQTL) and expression quantitative trait loci (eQTL) studies.
Expanding MNS1 Heterotaxy Phenotype.
Am J Med Genet A
January 2025
Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs, Dijon, France.
Article Synopsis
- * A collaboration via GeneMatcher discovered new cases, including a female patient with complete situs inversus and other health issues linked to the MNS1 variants.
- * The findings also included sibling fetuses with different MNS1 mutations, contributing to a better understanding of this rare malformation syndrome.
Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil.
Orphanet J Rare Dis
June 2024
Laboratório de Alta Complexidade, Instituto Nacional da Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira, Fiocruz, Rio de Janeiro, Brazil.
Background: Prader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding the correlation between genotype and phenotype in PWS is crucial for improved genetic counseling and prognosis. In this study, we aimed to investigate the correlation between genotype and phenotype in 45 PWS patients who previously underwent methylation-sensitive high-resolution melting (MS-HRM) for diagnosis.
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