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

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1970 • 253,849 citations

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications.

1979 • 54,907 citations

Short-Term Effects of Nose-Only Cigarette Smoke Exposure on Glutathione Redox Homeostasis, Cytochrome P450 1A1/2 and Respiratory Enzyme Activities in Mice Tissues

2013 • 47,043 citations

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1975 • 33,059 citations

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1979 • 22,482 citations

Fast and sensitive silver staining of DNA in polyacrylamide gels

1991 • 2,914 citations

Strategies for multilocus linkage analysis in humans.

1984 • 2,600 citations

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1987 • 2,333 citations

The 1993–94 Généthon human genetic linkage map

1994 • 1,870 citations

A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation

1990 • 1,332 citations

Titins: Giant Proteins in Charge of Muscle Ultrastructure and Elasticity

1995 • 1,195 citations

α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere

1994 • 1,008 citations

Mutations in the Genes for Cardiac Troponin T and α-Tropomyosin in Hypertrophic Cardiomyopathy

1995 • 913 citations

Hypertrophic Cardiomyopathy

1987 • 907 citations

Exon definition may facilitate splice site selection in RNAs with multiple exons.

1990 • 726 citations

PRE-mRNA SPLICING

1986 • 673 citations

Mutations in the cardiac myosin binding protein–C gene on chromosome 11 cause familial hypertrophic cardiomyopathy

1995 • 574 citations

A Mouse Model of Familial Hypertrophic Cardiomyopathy

1996 • 550 citations

Mapping a Gene for Familial Hypertrophic Cardiomyopathy to Chromosome 14q1

1989 • 526 citations

Cardiac myosin binding protein–C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy

1995 • 440 citations

Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?

1995 • 400 citations

A Signaling Pathway to Translational Control

1996 • 370 citations

Echocardiographic measurements in normal subjects: Evaluation of an adult population without clinically apparent heart disease

1979 • 337 citations

Access to a Messenger RNA Sequence or Its Protein Product Is Not Limited by Tissue or Species Specificity

1989 • 306 citations

Echocardiographic measurements in normal subjects. Growth-related changes that occur between infancy and early adulthood.

1978 • 303 citations

Organization and Sequence of Human Cardiac Myosin Binding Protein C Gene (MYBPC3) and Identification of Mutations Predicted to Produce Truncated Proteins in Familial Hypertrophic Cardiomyopathy

1997 • 295 citations

A Molecular Map of the Interactions between Titin and Myosin‐Binding Protein C

1996 • 272 citations

Exon Definition May Facilitate Splice Site Selection in RNAs with Multiple Exons

1990 • 269 citations

Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.

1995 • 218 citations

A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3

1993 • 191 citations

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

1993 • 186 citations

Preclinical Diagnosis of Familial Hypertrophic Cardiomyopathy by Genetic Analysis of Blood Lymphocytes

1991 • 186 citations

A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.

1993 • 177 citations

Mice Expressing Mutant Myosin Heavy Chains Are a Model for Familial Hypertrophic Cardiomyopathy

1996 • 164 citations

Genetic dissection of Drosophila myofibril formation: effects of actin and myosin heavy chain null alleles.

1989 • 156 citations

The carboxyl terminus of myosin binding protein C (MyBP-C, C-protein) specifies incorporation into the A-band of striated muscle

1996 • 131 citations

Drosophila melanogaster troponin-T mutations engender three distinct syndromes of myofibrillar abnormalities

1990 • 118 citations

Contractile protein mutations and heart disease

1996 • 109 citations

Proteasomes: protein and gene structures.

1992 • 108 citations

Pediatric and Adolescent Echocardiography

1981 • 98 citations

The anatomy of a molecular giant: How the sarcomere cytoskeleton is assembled from immunoglobulin superfamily molecules

1995 • 64 citations

Cotranslational assembly of some cytoskeletal proteins: implications and prospects

1993 • 58 citations

Quantitative analysis in molecular diagnostics

1994 • 37 citations

Assembly of Cardiac C-protein during Myofibrillogenesis in Myogenic Cells in Culture.

1995 • 14 citations