An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish
about
Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy.Titin-truncating variants affect heart function in disease cohorts and the general population.Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All Three: Explaining the Distribution of Truncation Variants in Titin.Exon- and contraction-dependent functions of titin in sarcomere assembly.LITTLE FISH, BIG DATA: ZEBRAFISH AS A MODEL FOR CARDIOVASCULAR AND METABOLIC DISEASE.Genome Editing for the Study of Cardiovascular Diseases.Tampering with springs: phosphorylation of titin affecting the mechanical function of cardiomyocytes.Treatment of Dyslipidemia Using CRISPR/Cas9 Genome Editing.Genome Editing: The Recent History and Perspective in Cardiovascular Diseases.Phenotype and Clinical Outcomes of Titin Cardiomyopathy.High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.The Impact of CRISPR/Cas9 Technology on Cardiac Research: From Disease Modelling to Therapeutic Approaches.Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation
P2860
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P2860
An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish
description
2015 nî lūn-bûn
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2015年学术文章
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name
An internal promoter underlies ...... utations of Titin in zebrafish
@ast
An internal promoter underlies ...... utations of Titin in zebrafish
@en
type
label
An internal promoter underlies ...... utations of Titin in zebrafish
@ast
An internal promoter underlies ...... utations of Titin in zebrafish
@en
prefLabel
An internal promoter underlies ...... utations of Titin in zebrafish
@ast
An internal promoter underlies ...... utations of Titin in zebrafish
@en
P2093
P2860
P50
P356
P1433
P1476
An internal promoter underlies ...... utations of Titin in zebrafish
@en
P2093
Angelo Pelonero
Annie Poon
Chaoying Yin
Chenxu Shi
Christiana Yuan
Clive R Pullinger
Daniel O Hart
Diana Tran
Elizabeth Halper
Irina Movsesyan
P2860
P304
P356
10.7554/ELIFE.09406
P407
P577
2015-10-16T00:00:00Z