Results 91 to 100 of about 305,611 (291)
Genetic variation in the SIM1 locus is associated with erectile dysfunction. [PDF]
, 2018 Erectile dysfunction affects millions of men worldwide. Twin studies support the role of genetic risk factors underlying erectile dysfunction, but no specific genetic variants have been identified. We conducted a large-scale genome-wide association study
Ahituv, Nadav +12 more
core
Causal graphical models in systems genetics: A unified framework for joint inference of causal network and genetic architecture for correlated phenotypes [PDF]
, 2009 Causal inference approaches in systems genetics exploit quantitative trait loci (QTL) genotypes to infer causal relationships among phenotypes. The genetic architecture of each phenotype may be complex, and poorly estimated genetic architectures may ...
Attie, Alan D. +3 more
core +3 more sources
FEBS Open Bio, EarlyView.In a murine model of myocardial ischemia and reperfusion (MI/R), the CD36 azapeptide ligand MPE‐298 reduces cardiac injury and transiently lowers left ventricular long‐chain fatty acids (LCFAs) accumulation 3 h after reperfusion, accompanied by a decrease of oxidative stress and inflammation‐associated genes' expression in the heart and adipose tissue.
Jade Gauvin +12 more
wiley +1 more source
Directed evolution of enzymes at the crossroads of tradition and innovation
FEBS Open Bio, EarlyView.An iterative cycle of data‐driven enzyme optimization comprising four stages: genetic diversification of a template enzyme, expression of protein variants, high‐throughput evaluation, and machine‐learning‐guided redesign of the next variant library.
Maria Tomkova +2 more
wiley +1 more source
A large French family with TGFBR2 pathogenic variant: illustration of variability
Orphanet Journal of Rare DiseasesAims To report aortic events in a large family carrying a variant in the TGFBR2 gene. Methods Since 1990 up to 2024, we have conducted a longitudinal clinical study of a large single family comprising 63 members across four generations who carry the same
Ludivine Eliahou +10 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Glanzmann thrombasthenia: Genotype / phenotype correlation
Journal of Taibah University Medical Sciences, 2023 Ahmad M. Tarawah, Ragahd A. Tarawah
doaj +1 more source
Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller +6 more
wiley +1 more source
Genotype‐phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome
Molecular Genetics & Genomic Medicine, 2019 Background Alport Syndrome (AS) is a progressive hereditary glomerular disease. It is often accompanied by sensorineural hearing loss and ocular abnormalities and can sometimes develop into end stage renal disease (ESRD), which is caused by mutations in ...
Shunlai Shang +6 more
doaj +1 more source
Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source