Titin-truncating variants affect heart function in disease cohorts and the general population.
about
Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy.Genetics and genomics of dilated cardiomyopathy and systolic heart failure.Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.Personalizing Risk Stratification for Sudden Death in Dilated Cardiomyopathy: The Past, Present, and Future.Tampering with springs: phosphorylation of titin affecting the mechanical function of cardiomyocytes.Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.The giant protein titin regulates the length of the striated muscle thick filament.Phenotype and Clinical Outcomes of Titin Cardiomyopathy.When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies.Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes.High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.Three-dimensional cardiovascular imaging-genetics: a mass univariate framework.Molecular roles and function of circular RNAs in eukaryotic cells.Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy.Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.The complexity of titin splicing pattern in human adult skeletal muscles.Congenital titinopathy: Comprehensive characterisation and pathogenic insights.Cardiac circRNAs arise mainly from constitutive exons rather than alternatively spliced exons.Genetic Pathogenesis of Hypertrophic and Dilated Cardiomyopathy.Atlas-Based Computational Analysis of Heart Shape and Function in Congenital Heart Disease.Genetic Etiology for Alcohol-Induced Cardiac Toxicity.Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillationRNA editing of Filamin A pre-mRNA regulates vascular contraction and diastolic blood pressureTranscriptome analysis of human heart failure reveals dysregulated cell adhesion in dilated cardiomyopathy and activated immune pathways in ischemic heart failure
P2860
Q30234440-3EF80037-CFFE-4799-812E-7E8392E08F92Q37661546-453D59DF-8772-45D2-A837-0349C4B0FBD2Q38630261-5D4D2B35-5112-429C-8377-593CB626B4ECQ38659406-818C2CBF-11C3-4CE1-A162-166B7E942016Q39310690-A1C04FBC-3B24-4558-85B1-AD25D87A16EEQ40042810-AE5D8136-17A6-44BA-AD96-976B7A073047Q42380543-7FBF6683-1553-418E-AA8E-1052A78BC20BQ46159261-FF0C157C-4C33-4DD2-93A1-F82E071E98EFQ47104776-CD305C67-CF71-4757-B80B-D9BD4A35A22FQ47109102-43A66A56-B289-47F4-8B30-9C4FFFA21A2BQ47141059-49CDB766-27A3-4580-B13D-2B07409BDA92Q47163848-D9718A6D-9D5E-4E70-9956-604A4D87731EQ47317140-25C645A8-48EB-4B74-8CF9-011E1B76C2CCQ47425702-1B4B904D-73C3-41DA-907F-5D5B16BFE745Q48240052-E0404726-6132-435A-8F98-A1150FF5B496Q49025523-6C56399B-EFBC-4850-BACF-42E22573B6C8Q50066642-A2701626-3E96-4142-8F17-D6ACCBFA07C0Q50083275-DF021923-048D-46E1-8EB0-2CCE2A7C3C49Q52337736-DA9988B2-0169-4CF8-BB55-B8B9F93A2A07Q52565198-B3F4A8B1-C9C2-4217-A132-FC7C0874FA30Q52641862-1A27DA3D-01E2-48D4-8E1C-F76F5AF52A2EQ52662539-04832234-0298-4D50-BD52-782C5CDCEEB5Q52732349-42C93F6C-AB1B-4644-A156-849276B2CC9FQ53818418-5BA5521D-2E87-43CC-AC96-3829678E2226Q58547155-5D4BACE0-9790-444C-A966-F18F5A3DAAD3Q58796580-F1C97275-3605-4E03-B545-94C522AEE93DQ59136280-ED7BE14E-836B-4994-8910-33497A22F67A
P2860
Titin-truncating variants affect heart function in disease cohorts and the general population.
description
2016 nî lūn-bûn
@nan
2016 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
name
Titin-truncating variants affe ...... ts and the general population.
@ast
Titin-truncating variants affe ...... ts and the general population.
@en
type
label
Titin-truncating variants affe ...... ts and the general population.
@ast
Titin-truncating variants affe ...... ts and the general population.
@en
prefLabel
Titin-truncating variants affe ...... ts and the general population.
@ast
Titin-truncating variants affe ...... ts and the general population.
@en
P2093
P2860
P50
P356
P1433
P1476
Titin-truncating variants affe ...... rts and the general population
@en
P2093
Carlo Biffi
Chee J Pua
Christine E Seidman
Daniel Rueckert
Dominique P V de Kleijn
Ester Khin
Franziska Kreuchwig
Jean-Paul Kovalik
Jonathan G Seidman
P2860
P2888
P356
10.1038/NG.3719
P407
P50
P577
2016-11-21T00:00:00Z