Mutations of presenilin genes in dilated cardiomyopathy and heart failure. - Test2 - elhamkhani - TriplyDB

Mutations of presenilin genes in dilated cardiomyopathy and heart failure.

Mutations of presenilin genes in dilated cardiomyopathy and heart failure.

http://www.wikidata.org/entity/Q35221755

about

Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy A novel custom resequencing array for dilated cardiomyopathy Genetics of Human and Canine Dilated Cardiomyopathy Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders Rare variant mutations identified in pediatric patients with dilated cardiomyopathy Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy Presenilin promotes dietary copper uptake Development and implementation of a high-throughput compound screening assay for targeting disrupted ER calcium homeostasis in Alzheimer's disease Imaging phenotype vs genotype in nonhypertrophic heritable cardiomyopathies: dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy Protein aggregates and novel presenilin gene variants in idiopathic dilated cardiomyopathy Cardiomyocyte contractile dysfunction in the APPswe/PS1dE9 mouse model of Alzheimer's disease Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy.SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.Notch signalling in cardiovasculogenesis: insight into their role in early cardiovascular development.A novel locus for dilated cardiomyopathy maps to canine chromosome 8 Glucose and endoplasmic reticulum calcium channels regulate HIF-1beta via presenilin in pancreatic beta-cells.Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals Changes in the expression of the Alzheimer’s disease-associated presenilin gene in drosophila heart leads to cardiac dysfunction Assessment of LMNA copy number variation in 58 probands with dilated cardiomyopathy A large scale multivariate parallel ICA method reveals novel imaging-genetic relationships for Alzheimer's disease in the ADNI cohort.Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.Protein post-translational modifications and misfolding: new concepts in heart failure.KChIP2 regulates the cardiac Ca2+ transient and myocyte contractility by targeting ryanodine receptor activity.Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.Ubiquitin receptors and protein quality control Genetic testing for dilated cardiomyopathy in clinical practice.Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy.Non-Catalytic Roles of Presenilin Throughout Evolution.Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.Presenilin-1 mutation impairs cholinergic modulation of synaptic plasticity and suppresses NMDA currents in hippocampus slices Notch and cardiac outflow tract development.Control of intracellular calcium signaling as a neuroprotective strategy Genetic testing for inherited cardiac disease.Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.

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P2860

Mutations of presenilin genes in dilated cardiomyopathy and heart failure.

http://www.wikidata.org/entity/Q35221755

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2006 nî lūn-bûn

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2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2006 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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name

Mutations of presenilin genes in dilated cardiomyopathy and heart failure.

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Mutations of presenilin genes in dilated cardiomyopathy and heart failure.

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Mutations of presenilin genes in dilated cardiomyopathy and heart failure.

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Mutations of presenilin genes in dilated cardiomyopathy and heart failure.

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Mutations of presenilin genes in dilated cardiomyopathy and heart failure.

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Mutations of presenilin genes in dilated cardiomyopathy and heart failure.

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American Journal of Human Genetics

P1476

Mutations of presenilin genes in dilated cardiomyopathy and heart failure.

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P2093

Charles N Allen

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Deirdre Nauman

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Donna Burgess

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Duanxiang Li

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Jessica D Kushner

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Julie Partain

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Michael Litt

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Petra M Jakobs

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Randal R Nixon

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Ray E Hershberger

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P2860

Calsenilin reverses presenilin-mediated enhancement of calcium signaling

Tetralogy of fallot and other congenital heart defects in Hey2 mutant mice

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating

The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

Family-based association between Alzheimer's disease and variants in UBQLN1

Direct association of presenilin-1 with beta-catenin

Candidate gene for the chromosome 1 familial Alzheimer's disease locus

Sodium channel mutations and susceptibility to heart failure and atrial fibrillation

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10.1086/509900

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