Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy
about
Gene regulation, alternative splicing, and posttranslational modification of troponin subunits in cardiac development and adaptation: a focused reviewCardiac troponin mutations and restrictive cardiomyopathyFamilial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylationMolecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhoodMutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathyNemaline myopathy: current concepts. The ENMC International Consortium and Nemaline MyopathyMolecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromesMutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2BNovel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and proteinMyosin binding protein C: implications for signal-transductionChamber Specific Gene Expression Landscape of the Zebrafish HeartGenetics and disease of ventricular muscle.Protein Structure-Function Relationship at Work: Learning from Myopathy Mutations of the Slow Skeletal Muscle Isoform of Troponin TClinical and Mechanistic Insights Into theĀ Genetics of CardiomyopathyIdentification of a functionally critical protein kinase C phosphorylation residue of cardiac troponin TDisease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding regionCoding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathyMutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathyTargeting the sarcomere to correct muscle functionClinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathyA mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillationShared genetic causes of cardiac hypertrophy in children and adultsAltered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathyPerturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutationsThin filament mutations: developing an integrative approach to a complex disorderp57Kip2 expression is enhanced during mid-cardiac murine development and is restricted to trabecular myocardiumA truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathyA novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM)Aldosterone, through novel signaling proteins, is a fundamental molecular bridge between the genetic defect and the cardiac phenotype of hypertrophic cardiomyopathyFunctional consequence of mutation in rat cardiac troponin T is affected differently by myosin heavy chain isoformsCardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathyElectrophysiological abnormalities and arrhythmias in alpha MHC mutant familial hypertrophic cardiomyopathy miceChanges in the chemical and dynamic properties of cardiac troponin T cause discrete cardiomyopathies in transgenic mice.Effects of a cardiomyopathy-causing troponin t mutation on thin filament function and structure.The alternative heart: impact of alternative splicing in heart disease.Hypertrophic cardiomyopathy: management, risk stratification, and prevention of sudden deathMyofilament Ca2+ sensitization causes susceptibility to cardiac arrhythmia in mice.Temporal and mutation-specific alterations in Ca2+ homeostasis differentially determine the progression of cTnT-related cardiomyopathies in murine models.Myofibrillogenesis in the developing zebrafish heart: A functional study of tnnt2.
P2860
Q21129229-E89D66E8-FEFA-4BA4-B1A0-6453525B4C1BQ21328674-74B87891-36AE-4FF4-B8BB-68EAFEF32209Q24290577-346A0F91-40DC-4790-BD8A-43A0EA29EF56Q24303615-B694D73E-51FD-4F3B-BA09-6BE054DDAFE8Q24304076-49C78637-8CEF-4719-B7F3-EA1D99B1DB60Q24517937-851606F0-D37B-43F5-BF10-11F0E095AA3BQ24517948-08FA619B-E2FD-40A7-B494-52FB4020AEC8Q24531960-23BFE947-DB67-400D-A633-DF70FF435C39Q24532489-F0BB4AA5-E99B-4842-9CF3-718113132744Q24561566-85649614-F327-4B7B-9739-24102D0E0D89Q26865973-6574A1EC-01AE-4675-A1FB-8BCED91C07D8Q27324640-179EAAD7-FAE1-4584-BC15-7099225AA45DQ27691994-461D6102-B955-4F6E-89E1-BF8CCBA23CD3Q28073936-FAA170F4-6CF6-45E4-84BC-E5A87F009708Q28075470-0BAB5AE9-A245-4D35-9A9B-3474B9CAC04AQ28183029-0625A789-60E3-49C2-8ECF-2FE54F4E1D89Q28199174-E3ABD10F-438D-43BA-BD15-2C5D7498E878Q28243560-6211B682-DE3D-41DE-B89D-BD93B11DCE6DQ28244969-308B864F-6E63-4079-86EE-5B8E67069FECQ28260629-C046FD7C-E411-4975-918E-71CF4F5249F7Q28268628-00A28D76-5AC6-4138-9A50-781CF3161437Q28271478-2620EBF9-BE29-4D5C-8619-82A09B112EC3Q28276100-88A1AD07-A983-4476-B26C-DAED0088EB9CQ28283047-59342D38-8A82-41B6-82A7-142FB723F553Q28287468-149125DB-0E2F-40DC-B515-3BAEF887EA84Q28307606-1BDCBF79-6790-4A69-A559-7627C1F74CE2Q28507727-1750A9AF-10A9-438F-8E6A-96E0E97ACA9EQ28508653-DDF4B0BB-F0E7-45D9-8316-03E9A4978CC1Q28540344-5A60739D-9DBF-4C71-AE51-CDC6FFD69C8DQ28570951-9FEE6AA3-E7E4-4CF1-AE2E-92123F06A608Q28580787-35CAFF84-604B-4E99-B7C4-87BC3AE17C2BQ28588821-B272F94C-191E-45B2-9C92-FA7A17350732Q28592635-358C64C8-B7D1-4808-B2DE-95664CDD0E02Q28593918-52A2C142-A833-4C30-B3C8-E44819F04001Q30328020-5D858783-E4FB-4E1E-9B59-4BD7DE141D6DQ30432053-5DA79BDD-B996-4AD6-9511-76C00CEAF39EQ30478725-9356590D-7E14-4DF3-A368-7C170BB5B0F6Q30484558-3749C98F-F543-4354-A07B-20363F6675BDQ30489417-D1DD546A-C4B2-44C4-9BBA-92B35324C363Q30494192-AFF63F96-6053-4674-A327-0CD8C85C728B
P2860
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy
description
1995 nĆ® lÅ«n-bĆ»n
@nan
1995 Õ©ÕøÖÕ”ÕÆÕ”Õ¶Õ« Ō±ÕŗÖÕ«Õ¬Õ«Õ¶ Õ°ÖÕ”ÕæÕ”ÖÕ”ÕÆÕøÖÕ”Õ® Õ£Õ«ÕæÕ”ÕÆÕ”Õ¶ ÕµÖ
Õ¤ÕøÖÕ”Õ®
@hyw
1995 Õ©Õ¾Õ”ÕÆÕ”Õ¶Õ« Õ”ÕŗÖÕ«Õ¬Õ«Õ¶ Õ°ÖÕ”ÕæÕ”ÖÕ”ÕÆÕ¾Õ”Õ® Õ£Õ«ÕæÕ”ÕÆÕ”Õ¶ Õ°ÕøÕ¤Õ¾Õ”Õ®
@hy
1995幓ć®č«ę
@ja
1995幓č«ę
@yue
1995幓č«ę
@zh-hant
1995幓č«ę
@zh-hk
1995幓č«ę
@zh-mo
1995幓č«ę
@zh-tw
1995幓č®ŗę
@wuu
name
Mutations in the genes for car ...... in hypertrophic cardiomyopathy
@ast
Mutations in the genes for car ...... in hypertrophic cardiomyopathy
@en
Mutations in the genes for car ...... in hypertrophic cardiomyopathy
@nl
type
label
Mutations in the genes for car ...... in hypertrophic cardiomyopathy
@ast
Mutations in the genes for car ...... in hypertrophic cardiomyopathy
@en
Mutations in the genes for car ...... in hypertrophic cardiomyopathy
@nl
prefLabel
Mutations in the genes for car ...... in hypertrophic cardiomyopathy
@ast
Mutations in the genes for car ...... in hypertrophic cardiomyopathy
@en
Mutations in the genes for car ...... in hypertrophic cardiomyopathy
@nl
P2093
P3181
P1476
Mutations in the genes for car ...... in hypertrophic cardiomyopathy
@en
P2093
A Matsumori
A O'Donoghue
C S Moravec
J G Seidman
L Thierfelder
W J McKenna
P304
P3181
P356
10.1056/NEJM199504203321603
P407
P577
1995-04-20T00:00:00Z