Mutations of the light meromyosin domain of the β-myosin heavy chain rod in hypertrophic cardiomyopathy

Circulation Research

Volumn 90, Issue 3, 2002, Pages 263-269

  Blair, Edward ^a,d   Redwood, Charles ^a   De Jesus Oliveira, Marisa ^a   Moolman Smook, J C ^b   Brink, Paul ^c   Corfield, V A ^b   Östman Smith, Ingegerd ^a   Watkins, Hugh ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b STELLENBOSCH UNIVERSITY   (South Africa)

^c STELLENBOSCH UNIVERSITY   (South Africa)

^d UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Hypertrophic cardiomyopathy; Myosin

Indexed keywords

ALANINE; GENE PRODUCT; MEROMYOSIN; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN BETA; SERINE; THREONINE; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DERMATOME; ESSENTIAL GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HAPLOTYPE; HETERODUPLEX ANALYSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOTOR PERFORMANCE; MYH7 GENE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; SARCOMERE; STRUCTURE ANALYSIS; THERMOREGULATION;

ADOLESCENT; ADULT; AGED; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CHILD; CHILD, PRESCHOOL; COMORBIDITY; DEATH, SUDDEN, CARDIAC; DNA MUTATIONAL ANALYSIS; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FEMALE; GENES, DOMINANT; GENETIC HETEROGENEITY; GENETIC SCREENING; GREAT BRITAIN; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOSIN HEAVY CHAINS; MYOSIN SUBFRAGMENTS; PEDIGREE; PENETRANCE; PROTEIN STRUCTURE, TERTIARY; SOUTH AFRICA; VENTRICULAR MYOSINS;

EID: 0037155048     PISSN: 00097330     EISSN: None     Source Type: Journal    
DOI: 10.1161/hh0302.104532     Document Type: Article

References (40)

1. The management of hypertrophic cardiomyopathy
2. A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation
3. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy
4. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
5. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy
6. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy
7. α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
8. Structural analysis of the titin gene in hypertrophic cardiomyopathy: Identification of a novel disease gene
9. Familial hypertrophic cardiomyopathy: From mutations to functional defects
10. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
11. Structural interpretation of the mutations in the β-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy
12. Hypertrophic cardiomyopathy
13. Detection of a new mutation in the β-myosin heavy chain gene in an individual with hypertrophic cardiomyopathy
14. Coexistence of mitochondrial DNA and β myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure
15. Malignant hypertrophic cardicmyopathy caused by the Arg723Gly mutation in β-myosin heavy chain gene
16. Adult-onse familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene
17. Identification of a novel missense mutation in the cardiac β-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy
18. A 29 residue region of the sarcomeric myosin rod is necessary for filament formation
19. A comprehensive genetic map of the human genome based on 5,264 microsatellites
20. The complete sequence of the human β-myosin heavy chain gene and a comparative analysis of its product
21. Properties of mutant contractile proteins that cause hypertrophic cardiomyopathy
22. Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the β-myosin heavy chain gene: A 908Leu→ Val mutation and a 403Arg→Gln mutation
23. Mutations in β-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C
24. R403Q and L908V mutant β-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level
25. Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy
26. Myosin heavy-chain mutations that disrupt Caenorhabditis elegans thick filament assembly
27. Sequence analysis of mutations that affect the synthesis, assembly and enzymatic activity of the unc-54 myosin heavy chain of Caenorhabditis elegans
28. Defects in the Drosophila myosin rod permit sarcomere assembly but cause flight muscle degeneration
29. Effects of two familial hypertrophic cardiomyopathy-causing mutations on β-tropomyosin structure and function
30. A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy and exerts a dominant negative effect on filament formation
31. The packing of α-helices: Simple coiled coils
32. α-helical coiled coils: A widespread motif in proteins
33. Structure, function and application of the coiled-coil protein folding motif
34. Effects of side-chain characteristics on stability and oligomerization state of a de novo-designed model coiled-coil: 20 Amino acid substitutions in position "d."
35. Mutations in the hinge and rod domain of the cardiac β-myosin heavy chain gene in patients with hypertrophic cardiomyopathy
36. Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system
37. Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations
38. 2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: Evidence for the central role of energy compromise in disease pathogenesis
39. Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNA(Lys) gene