The Regulation of Rabbit Skeletal Muscle Contraction

James A. Spudich, Susan Watt

Journal of Biological Chemistry

Animal PhysiologyActo-heavy MeromyosinAtpase ActivityBiosynthesisBioorganic Chemistry +10

PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis

Jeffrey R. O'Connell, Daniel E. Weeks

The American Journal of Human Genetics

Genetic AnalysisHaplotype DeterminationLinkage DisequilibriumGenotype-phenotype AssociationMedicine +10

Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis

Joshua M. Kaplan, Sung Hyun Kim, Kathryn N. North, +8

Nature Genetics

GlomerulonephritisUrologyMedicineRenal PathologyIga Glomerulonephritis +5

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Jing Liu, Masashi Aoki, Isabel Illa, +19

Nature Genetics

Miyoshi MyopathyRare DiseasesMendelian DisorderSkeletal MuscleGenetic Disorder +4

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Rumaisa Bashir, S. Britton, Tom Strachan, +15

Nature Genetics

SpermatogenesisDevelopmental BiologyGenetic DisorderDevelopmental GeneticsGenetics +8

Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring.

Jed B. Gorlin, Rae’e Yamin, Sean E. Egan, +4

The Journal of Cell Biology

Molecular BiologyMolecular Leaf SpringCytoskeletonCellular PhysiologyProtein Folding +21

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Iris Eisenberg, Nili Avidan, Tamara Potikha, +17

Nature Genetics

Mendelian DisorderGenetic DisorderGeneticsMolecular BiologyDegenerative Disease +3

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Peter Hackman, Anna Vihola, Henna Haravuori, +8

The American Journal of Human Genetics

Developmental BiologySkeletal MuscleGenetic DisorderMedicineGenetics +6

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith, +14

Nature Genetics

Developmental BiologyMendelian DisorderGenetic DisorderCytoskeletal ProteinGenetics +6

Guidebook to the cytoskeletal and motor proteins

General Pharmacology The Vascular System

Intracellular TransportNatural SciencesMacromolecular MachineMolecular BiologyCytoskeleton +7