Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.
about
Global impact of RNA splicing on transcriptome remodeling in the heartPathophysiological defects and transcriptional profiling in the RBM20-/- rat modelRNA splicing regulated by RBFOX1 is essential for cardiac function in zebrafish.Next-generation sequencing: from understanding biology to personalized medicine.Stratification of the risk of sudden death in nonischemic heart failure.Delineating RBM20 regulation of alternative splicing in dilated cardiomyopathyEffect of angiotensin-converting enzyme inhibitors and receptor blockers on appropriate implantable cardiac defibrillator shock in patients with severe systolic heart failure (from the GRADE Multicenter Study).RBFox1-mediated RNA splicing regulates cardiac hypertrophy and heart failureRbm20 regulates titin alternative splicing as a splicing repressor.Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.Pharmacological Modulation of Calcium Homeostasis in Familial Dilated Cardiomyopathy: An In Vitro Analysis From an RBM20 Patient-Derived iPSC ModelRNA binding proteins in the regulation of heart development.Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.Genetics and genomics of dilated cardiomyopathy and systolic heart failure.Genetic cardiomyopathies. Lessons learned from humans, mice, and zebrafish.Identifying potential functional impact of mutations and polymorphisms: linking heart failure, increased risk of arrhythmias and sudden cardiac deathPerspectives of induced pluripotent stem cells for cardiovascular system regeneration.Analysis of selected genes associated with cardiomyopathy by next-generation sequencing.Pre-mRNA mis-splicing of sarcomeric genes in heart failure.Identification of nuclear retention domains in the RBM20 protein.Alternative splicing as a regulator of development and tissue identity.Serum amine-based metabolites and their association with outcomes in primary prevention implantable cardioverter-defibrillator patients.Reducing RBM20 activity improves diastolic dysfunction and cardiac atrophy.Searching for sudden death snps in calcium handling genes.Alternative Splicing of L-type CaV1.2 Calcium Channels: Implications in Cardiovascular Diseases.Muscle-Specific Mis-Splicing and Heart Disease Exemplified by RBM20.Insulin regulates titin pre-mRNA splicing through the PI3K-Akt-mTOR kinase axis in a RBM20-dependent manner.Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.Splicing Factor RBM20 Regulates Transcriptional Network of Titin Associated and Calcium Handling Genes in The Heart.Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization.Exploring the Crosstalk Between and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy
P2860
Q26859601-4D18A6FF-9DF9-4D22-BF33-32854C796AEEQ27335405-BE5831E3-1193-4322-AA8D-A81F87A62D6AQ30661669-036042FE-BA79-4DA0-BEF1-4D9C4B391724Q33565443-220263EF-EF30-44DF-AFC5-BD26577E31D8Q34387880-DAE9EBF5-6BAC-4DDB-B7EE-3BAAC0DB0226Q34392889-8D7765D8-C369-4E42-899B-F7067AE6827DQ35186659-C6235C64-EF76-488D-B968-09B46A1C6100Q36430719-6A5ABF6B-52DD-4A42-8AC8-756B5321D3C3Q36619934-B7A1D6E9-3A00-4502-8035-1E022906D9B4Q36712985-FDDACD0E-793D-4D29-AB15-219FC2455642Q36994062-1DB1DD2F-960C-4E31-A8D6-0A93957F8668Q37245183-02B38473-B9D5-4484-ABD2-FA931953CE33Q37492561-CB5FC82C-3519-42DA-8AAD-6FFDD653FE4DQ37661546-4EFC8A71-A0FA-4DED-A946-00F6D5959453Q38024282-42ACBB01-5DAB-41FE-8455-23B507641855Q38142991-64BC6C1F-A47E-4A08-B1F9-479E3DC1B25BQ38321098-7CE59066-C10A-48B7-BAF7-0A6067C3896CQ38736759-8E25A178-6CE0-4C89-87D3-57BA293056E7Q39003222-3DD09534-DEBF-4120-9C21-0E8099F033DEQ39120426-884204F9-0BD9-4A68-B91D-0C898E6D2D22Q39295240-26611D5C-F735-4637-8E7B-6AB46BFDEC5AQ40987950-2F3870F8-3AD1-4634-B468-061A8B2EC310Q42356685-20B50A82-C0C4-4A70-AD26-001EA038EF20Q42875528-4DED9784-1848-4205-995E-115759FF7EDDQ47156445-08D9231D-1886-43BA-AA16-817755F33A88Q47229983-1EBA3228-D055-4930-8C80-FE3AFED31425Q48590283-29D3C00F-7F3B-4FD7-9FFA-D7F6D344F357Q54966607-955EB672-DA48-471F-8E95-DBE0CF789A4FQ55171924-267E27C8-D708-4DED-A543-11CAC9B9D89CQ55312782-4BF8E7DF-BA2D-4060-8A48-14BCBF3D5881Q57646299-88D1014A-5FCC-4636-8D70-4A692108D8DE
P2860
Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
Genetic variation in the alter ...... d with dilated cardiomyopathy.
@ast
Genetic variation in the alter ...... d with dilated cardiomyopathy.
@en
type
label
Genetic variation in the alter ...... d with dilated cardiomyopathy.
@ast
Genetic variation in the alter ...... d with dilated cardiomyopathy.
@en
prefLabel
Genetic variation in the alter ...... d with dilated cardiomyopathy.
@ast
Genetic variation in the alter ...... d with dilated cardiomyopathy.
@en
P2093
P2860
P1433
P1476
Genetic variation in the alter ...... ed with dilated cardiomyopathy
@en
P2093
Alaa A Shalaby
Calum A MacRae
Dennis M McNamara
Haider Mehdi
Heather L Bloom
J Michael Frangiskakis
Marwan M Refaat
Michael L Zhang
Patrick T Ellinor
Raul Weiss
P2860
P304
P356
10.1016/J.HRTHM.2011.10.016
P577
2011-10-17T00:00:00Z