To obtain novel candidate genes for autosomal dominant spinocerebellar ataxia and other neurodegenerative disorders in which gene mutations remain unidentified, we screened a human fetal brain cDNA library using (CAG)(10) repeat probes. Sixteen cDNAs were isolated and mapped to chromosomes 1, 2, 3, 6, 9, 13, 15, 16, 22, and X. Although we failed to detect abnormal CAG repeat expansion within these genes in Japanese patients with inherited neurodegenerative diseases, these genes remain potential candidate genes for neurodegenerative diseases that feature anticipation.
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http://dx.doi.org/10.1007/s100380200039 | DOI Listing |
JAMA Netw Open
January 2025
Mental Illness Research, Education and Clinical Center, Crescenz Veterans Affairs Medical Center, Philadelphia, Pennsylvania.
Importance: Recently, the US Food and Drug Administration gave premarketing approval to an algorithm based on its purported ability to identify individuals at genetic risk for opioid use disorder (OUD). However, the clinical utility of the candidate genetic variants included in the algorithm has not been independently demonstrated.
Objective: To assess the utility of 15 genetic variants from an algorithm intended to predict OUD risk.
Invest Ophthalmol Vis Sci
January 2025
State Key Laboratory of Ophthalmology, Optometry and Visual Science, Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Purpose: Protein arginine methyltransferase 1 (PRMT1) is an integral constituent of numerous cellular processes. However, its role in corneal epithelial wound healing (CEWH) remains unclear. This study investigates the impact of PRMT1 on cellular mechanisms underlying corneal epithelial repair and its potential to improve wound healing outcomes.
View Article and Find Full Text PDFHum Genet
January 2025
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Developmental anomalies of the hearing organ, the cochlea, are diagnosed in approximately one-fourth of individuals with congenital. The majority of patients with cochlear malformations remain etiologically undiagnosed due to insufficient knowledge about underlying genes or the inability to make conclusive interpretations of identified genetic variants. We used exome sequencing for the genetic evaluation of hearing loss associated with cochlear malformations in three probands from unrelated families deafness.
View Article and Find Full Text PDFGenome Biol Evol
December 2024
Living Earth Collaborative, Washington University in St. Louis, St. Louis, MO 63130, USA.
In the context of evolutionary time, cities are an extremely recent development. Although our understanding of how urbanization alters ecosystems is well-developed, empirical work examining the consequences of urbanization on adaptive evolution remains limited. To facilitate future work, we offer candidate genes for one of the most prominent urban carnivores across North America.
View Article and Find Full Text PDFMar Biotechnol (NY)
January 2025
Key Laboratory of Mariculture, Ministry of Education (KLMME), Ocean University of China, Qingdao, 266003, China.
Given the challenges of overcrowded coastal aquaculture spaces and insufficient production, utilizing saline-alkaline water areas represents a vital strategy to alleviate these bottlenecks. Spotted sea bass (Lateolabrax maculatus), with its formidable osmoregulatory capabilities, is an ideal candidate to develop a saline-alkaline tolerant strain. In our study, genotypic and phenotypic data from 287 L.
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