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Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.
Int J Pediatr Otorhinolaryngol
January 2025
Northeast Ohio Medical University College of Medicine, 4209 St, OH-44, Rootstown, OH, 44272, USA; HEARS, LLC, 632 E. Market St, Ste B, Akron, OH, 44304, USA. Electronic address:
Objectives: Define the extent to which pathogenic GJB2 (gap junction beta-2) variants are responsible for non-syndromic hearing loss (NSHL) in the Asian population.
Methods: Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines were followed. CINAHL, Embase, and PubMed's MEDLINE were accessed from 1997 to 2023 using permutations of the MeSH terms: "Asian," ''Southeast Asian,'' "South Asian," "East Asian," "Southeastern Asian," and "GJB2.
The Frequency of c.557A>G in the Dominican Population and Its Association with African Ancestry.
Pharmaceutics
December 2024
Personalized Medicine and Mental Health Unit, University Institute for Bio-Sanitary Research of Extremadura, 06080 Badajoz, Spain.
Genetic polymorphism of the dihydropyrimidine dehydrogenase gene () is responsible for the variability found in the metabolism of fluoropyrimidines such as 5-fluorouracil (5-FU), capecitabine, or tegafur. The genotype is linked to variability in enzyme activity, 5-FU elimination, and toxicity. Approximately 10-40% of patients treated with fluoropyrimidines develop severe toxicity.
View Article and Find Full Text PDFNovel Variants and Clinical Features of Hearing Loss in a Large Japanese Cohort.
Genes (Basel)
January 2025
Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.
Background/objectives: The gene is responsible for autosomal recessive non-syndromic sensorineural hearing loss and is assigned as DFNB18B. To date, 44 causative variants have been reported to cause non-syndromic hearing loss. However, the detailed clinical features for -associated hearing loss remain unclear.
View Article and Find Full Text PDFUpdates in Biliary Atresia: Aetiology, Diagnosis and Surgery.
Children (Basel)
January 2025
Department of Paediatric Surgery, Kings College Hospital, Denmark Hill, London SE5 9RS, UK.
Biliary atresia (BA) is an obliterative disease of the bile ducts affecting between 1 in 10,000-20,000 infants with a predominance in Asian countries. It is clinically heterogeneous with a number of distinct variants (e.g.
View Article and Find Full Text PDFExploring in Ischemic Stroke and Moyamoya Disease: From Cellular Models to Clinical Insights.
Biomedicines
December 2024
Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.
Advances in stroke genetics have highlighted the critical role of rare genetic variants in cerebrovascular diseases, with emerging as a key player in ischemic stroke and Moyamoya disease (MMD). Initially identified as the primary susceptibility gene for MMD, -notably the p.R4810K variant-has been strongly linked to intracranial artery stenosis (ICAS) and various ischemic stroke subtypes, particularly in East Asian populations.
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