OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.
about
Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathyDeregulated Ca2+ cycling underlies the development of arrhythmia and heart disease due to mutant obscurinObscure functions: the location-function relationship of obscurins.Instrumentation to study myofibril mechanics from static to artificial simulations of cardiac cycle.In Utero Caffeine Exposure Induces Transgenerational Effects on the Adult HeartBinding of Myomesin to Obscurin-Like-1 at the Muscle M-Band Provides a Strategy for Isoform-Specific Mechanical Protection.Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.Myofilaments: Movers and Rulers of the Sarcomere.Obscurin variants and inherited cardiomyopathies.Overview of the Muscle Cytoskeleton.MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.The Sydney Heart Bank: improving translational research while eliminating or reducing the use of animal models of human heart disease.A Novel Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations.Exercise-induced alterations and loss of sarcomeric M-line organization in the diaphragm muscle of obscurin knockout mice.A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.Novel obscurins mediate cardiomyocyte adhesion and size via the PI3K/AKT/mTOR signaling pathway.Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes.A comprehensive genomic meta-analysis identifies confirmatory role of OBSCN gene in breast tumorigenesis.Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy.The potential of obscurin as a therapeutic target in muscle disorders.An historical perspective of the discovery of titin filaments -Part 2.Breast Cancer Clinical Trial of Chemotherapy and Trastuzumab: Potential Tool to Identify Cardiac Modifying Variants of Dilated Cardiomyopathy.Obscurin Variants in Patients With Left Ventricular Noncompaction.
P2860
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P2860
OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.
@ast
OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.
@en
type
label
OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.
@ast
OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.
@en
prefLabel
OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.
@ast
OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.
@en
P2093
P2860
P50
P1433
P1476
OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency
@en
P2093
Alex B Munster
Andrew E Messer
Cecile Montgiraud
Cristobal Dos Remedios
O'Neal Copeland
Onjee Choi
P2860
P304
P356
10.1371/JOURNAL.PONE.0138568
P407
P577
2015-09-25T00:00:00Z