Results 81 to 90 of about 124,431 (304)
Whole-exome sequencing in familial atrial fibrillation [PDF]
European Heart Journal, 2014 Positional cloning and candidate gene approaches have shown that atrial fibrillation (AF) is a complex disease with familial aggregation. Here, we employed whole-exome sequencing (WES) in AF kindreds to identify variants associated with familial AF.WES was performed on 18 individuals in six modestly sized familial AF kindreds. After filtering very rare
Peter, Weeke +9 more
openaire +2 more sources
Advanced Science, EarlyView.This review examines emerging combination immunotherapy strategies tailored to distinct tumor microenvironments and highlights next‐generation biomarkers that guide response prediction and treatment personalization. It integrates lessons from unsuccessful trials, addresses toxicity challenges, and outlines approaches for early biomarker discovery and ...
Asmita Pandey +6 more
wiley +1 more source
Mutation discovery in mice by whole exome sequencing [PDF]
Genome Biology, 2011 Abstract We report the development and optimization of reagents for in-solution, hybridization-based capture of the mouse exome. By validating this approach in a multiple inbred strains and in novel mutant strains, we show that whole exome sequencing is a robust approach for discovery of putative mutations, irrespective of strain ...
Fairfield, Heather +33 more
openaire +3 more sources
G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K‐AKT‐mTOR Signal Axis
Advanced Science, EarlyView.Schematic illustrating the impact of G3BP1 succinylation at K413 on cardiac function. In the healthy human heart, G3BP1 succinylation maintains homeostatic mTOR signaling. In patients with dilated cardiomyopathy (DCM) and heart failure (HF), G3BP1 de‐succinylation induces RagA expression and disrupts the binding of the TSC1/2 complex, leading to the ...
Yuan Zhang +9 more
wiley +1 more source
Overview of whole exome sequencing data production.
, 2013 Overview of whole exome sequencing data production.
Jia-Jun Lu (350535) +13 more
core +1 more source
, 2023 Whole-exome sequencing association analysis of 57 individuals (11 cases with sinusoidal obstruction syndrome and 46 controls), genes with the strongest association, sorted by adjusted association metric.
Marc Ansari (447428) +8 more
core +1 more source
Whole exome sequence analysis of Peters anomaly [PDF]
Human Genetics, 2014 Peters anomaly is a rare form of anterior segment ocular dysgenesis, which can also be associated with additional systemic defects. At this time, the majority of cases of Peters anomaly lack a genetic diagnosis. We performed whole exome sequencing of 27 patients with syndromic or isolated Peters anomaly to search for pathogenic mutations in currently ...
Eric, Weh +9 more
openaire +2 more sources
DNA Replication Errors Drive Genome‐Wide Small Inverted Triplication Dynamics
Advanced Science, EarlyView.This study provides insight into the dynamic equilibrium mechanism of a novel structural variant, small inverted triplication (SIT), which is generated by misalignment of the 3’ flap generated under DNA replication stress with palindromic sequence. Alternatively, the end sequence may fold back on itself to form an inverted fragment.
Yi Lei +12 more
wiley +1 more source
A Novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy [PDF]
, 2013 Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In
Tommaso Pippucci (497773) +46 more
core +1 more source
Sample coverage information from whole exome sequencing analysis.
, 2023 Sample coverage information from whole exome sequencing analysis.
Ahmet Acar (15008049) +3 more
core +1 more source