Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1093/jnci/djv397 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Compound heterozygous TMEM67 biallelic variants including a novel frameshift mutation in two Filipino adolescent siblings with Joubert syndrome.
J Neural Transm (Vienna)
January 2025
Section of Adult Neurology, Department of Internal Medicine, Chong Hua Hospital, Fuente, Cebu, Philippines.
Joubert Syndrome (JS) is a congenital cerebellar ataxia typically inherited in an autosomal recessive pattern, although rare X-linked inheritance can occur. It is characterized by hypotonia evolving into ataxia, global developmental delay, oculomotor apraxia, breathing dysregulation, and multiorgan involvement. To date, there are 40 causative genes implicated in JS, all of which encode proteins of the primary cilium.
View Article and Find Full Text PDFComparative genomic prediction of resistance to Fusarium wilt (Fusarium oxysporum f. sp. niveum race 2) in watermelon: parametric and nonparametric approaches.
Theor Appl Genet
January 2025
USDA, ARS, U.S. Vegetable Laboratory, 2700 Savannah Highway, Charleston, SC, 29414, USA.
Complex traits influenced by multiple genes pose challenges for marker-assisted selection (MAS) in breeding. Genomic selection (GS) is a promising strategy for achieving higher genetic gains in quantitative traits by stacking favorable alleles into elite cultivars. Resistance to Fusarium oxysporum f.
View Article and Find Full Text PDFRisk effects of environmental factors on human brucellosis in Aksu Prefecture, Xinjiang, China, 2014-2023.
Sci Rep
January 2025
School of Public Health, Xinjiang Medical University, Urumqi, China.
The context of rapid global environmental change underscores the pressing necessity to investigate the environmental factors and high-risk areas that contribute to the occurrence of brucellosis. In this study, a maximum entropy (MaxEnt) model was employed to analyze the factors influencing brucellosis in the Aksu Prefecture from 2014 to 2023. A distributed lag nonlinear model (DLNM) was employed to investigate the lagged effect of meteorological factors on the occurrence of brucellosis.
View Article and Find Full Text PDFUntying the Knots in Muscle Diseases.
Vet Clin North Am Equine Pract
January 2025
Large Animal Internal Medicine, Carlson College of Veterinary Medicine, Oregon State University, 227 Magruder Hall, Corvallis, OR 97331, USA. Electronic address:
Factors associated with high-intensity physical activity and sudden cardiac death in hypertrophic cardiomyopathy.
Heart
January 2025
Yonsei University College of Medicine, Seoul, The Republic of Korea
Background: High-intensity physical activity has traditionally been discouraged in patients with hypertrophic cardiomyopathy due to concerns about triggering sudden cardiac death. However, current guidelines adopt a more liberal stance, and evidence on risk factors for exercise-related sudden cardiac death remains limited. This study investigated the clinical, morphological and genetic factors associated with high-intensity physical activity-related sudden cardiac death in hypertrophic cardiomyopathy.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!