Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein

scientific article published on July 15, 1997

Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1172/JCI119555
P953full work available at URLhttp://www.jci.org/articles/view/119555/files/pdf
https://europepmc.org/articles/PMC508212
https://europepmc.org/articles/PMC508212?pdf=render
P932PMC publication ID508212
P698PubMed publication ID9218526

P50authorHugo A. KatusQ27929168
Mathias GautelQ30169356
P2093author name stringG. Mall
C. Fischer
R. Dietz
W. Kübler
J. Zehelein
S. Labeit
B. Vollrath
W. Rottbauer
W. M. Franz
P2860cites workMutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathyQ24304076
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Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomereQ24316399
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Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?Q24568292
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Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3Q24679142
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Detection of specific sequences among DNA fragments separated by gel electrophoresisQ25939003
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Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathyQ28236892
Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificityQ28256594
A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutationQ28258622
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A molecular map of the interactions between titin and myosin-binding protein C. Implications for sarcomeric assembly in familial hypertrophic cardiomyopathyQ28278861
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathyQ28284626
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Contractile protein mutations and heart diseaseQ28288865
Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathyQ28304526
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A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.Q36403852
Mice expressing mutant myosin heavy chains are a model for familial hypertrophic cardiomyopathyQ36437978
Exon definition may facilitate splice site selection in RNAs with multiple exonsQ36713104
The carboxyl terminus of myosin binding protein C (MyBP-C, C-protein) specifies incorporation into the A-band of striated muscle.Q38363247
Echocardiographic measurements in normal subjects: Evaluation of an adult population without clinically apparent heart diseaseQ39704931
Hypertrophic cardiomyopathy. Interrelations of clinical manifestations, pathophysiology, and therapy (2).Q39759074
The anatomy of a molecular giant: how the sarcomere cytoskeleton is assembled from immunoglobulin superfamily molecules.Q40415609
Quantitative analysis in molecular diagnosticsQ40662676
Cotranslational assembly of some cytoskeletal proteins: implications and prospects.Q40774646
A signaling pathway to translational controlQ41073792
Assembly of cardiac C-protein during myofibrillogenesis in myogenic cells in culture.Q42623781
Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytesQ43724437
Genetic dissection of Drosophila myofibril formation: effects of actin and myosin heavy chain null alleles.Q52454750
Echocardiographic measurements in normal subjects. Growth-related changes that occur between infancy and early adulthoodQ52798870
A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3.Q55065766
Fast and sensitive silver staining of DNA in polyacrylamide gelsQ67699472
Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1Q69792543
P433issue2
P407language of work or nameEnglishQ1860
P304page(s)475-82
P577publication date1997-07-15
P1433published inJournal of Clinical InvestigationQ3186904
P1476titleNovel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein
P478volume100

Reverse relations

cites work (P2860)
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