Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.
暂无分享,去创建一个
N. Romero | P. Landrieu | N. Monnier | J. Lunardi | M. Fardeau | P Landrieu | M Fardeau | N Monnier | J Lunardi | N B Romero | J Lerale | Y Nivoche | Y. Nivoche | N. Romero | J. Lerale | Joëlle Lerale
[1] B. Britt,et al. A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. , 1991, Genomics.
[2] G. Shy,et al. A new congenital non-progressive myopathy. , 1956, Brain : a journal of neurology.
[3] T. Nelson,et al. Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. , 2001, American journal of human genetics.
[4] V. Sorrentino,et al. Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families , 1999, Journal of medical genetics.
[5] N. Romero,et al. Malignant hyperthermia and central core disease: Analysis of two families with heterogeneous clinical expression , 1993, Neuromuscular Disorders.
[6] T. McCarthy,et al. Ryanodine receptor mutations in malignant hyperthermia and central core disease , 2000, Human mutation.
[7] A. Shuaib,et al. Central Core Disease: CLINICAL FEATURES IN 13 PATIENTS , 1987, Medicine.
[8] L. Xu,et al. Evidence for a role of the lumenal M3-M4 loop in skeletal muscle Ca(2+) release channel (ryanodine receptor) activity and conductance. , 2000, Biophysical journal.
[9] L Zhang,et al. Molecular Identification of the Ryanodine Receptor Pore-forming Segment* , 1999, The Journal of Biological Chemistry.
[10] P. Hopkins. Malignant hyperthermia: advances in clinical management and diagnosis. , 2000, British journal of anaesthesia.
[11] C. Doriguzzi,et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia , 1993, Nature Genetics.
[12] M. Phillips,et al. The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. , 1996, Genomics.
[13] P. Chomczyński,et al. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. , 1987, Analytical biochemistry.
[14] M. Phillips,et al. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia , 1990, Nature.
[15] F. Ellis. European Malignant Hyperpyrexia Group. , 1984, British journal of anaesthesia.
[16] F. Lehmann-Horn,et al. Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test. , 1999, Human molecular genetics.
[17] G. Comi,et al. Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. , 1998, American journal of human genetics.
[18] L. Bridges,et al. Segregation of malignant hyperthermia, central core disease and chromosome 19 markers. , 1999, British journal of anaesthesia.
[19] E. Hoffman,et al. A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy , 2000, Neurology.
[20] T. Noda,et al. Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene , 1994, Nature.
[21] N. Monnier,et al. Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. , 1994, Genomics.
[22] M. Jeanpierre. A rapid method for the purification of DNA from blood. , 1987, Nucleic acids research.
[23] T. Nelson,et al. Central core disease and malignant hyperthermia syndrome , 1980 .
[24] D. Maclennan,et al. Functional Consequences of Mutations of Conserved, Polar Amino Acids in Transmembrane Sequences of the Ca2+ Release Channel (Ryanodine Receptor) of Rabbit Skeletal Muscle Sarcoplasmic Reticulum* , 1998, The Journal of Biological Chemistry.
[25] N. Romero,et al. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. , 2000, Human molecular genetics.
[26] H. Takeshima,et al. Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor , 1989, Nature.
[27] A. Toutain,et al. Multi‐minicore disease–searching for boundaries: Phenotype analysis of 38 cases , 2000, Annals of neurology.
[28] M. Farrall,et al. Localization of the malignant hyperthermia susceptibility locus to human chromosome 19ql2–13.2 , 1990, Nature.
[29] G. Ávila,et al. Excitation–contraction uncoupling by a human central core disease mutation in the ryanodine receptor , 2001, Proceedings of the National Academy of Sciences of the United States of America.
[30] M. Dalakas,et al. Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. , 1993, Proceedings of the National Academy of Sciences of the United States of America.
[31] P Stieglitz,et al. Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. , 1997, American journal of human genetics.
[32] M. Lehane,et al. A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[33] M. Phillips,et al. Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum. , 1990, The Journal of biological chemistry.
[34] K. Stowell,et al. A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. , 2000, Human molecular genetics.
[35] F. Muntoni,et al. A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance , 1998, Neuromuscular Disorders.
[36] M. Phillips,et al. A mutation in the human ryanodine receptor gene associated with central core disease , 1993, Nature Genetics.
[37] D. Maclennan,et al. Measurement of Resting Cytosolic Ca2+ Concentrations and Ca2+ Store Size in HEK-293 Cells Transfected with Malignant Hyperthermia or Central Core Disease Mutant Ca2+ Release Channels* , 1999, The Journal of Biological Chemistry.
[38] S. Grinstein,et al. Caffeine and Halothane Sensitivity of Intracellular Ca2+ Release Is Altered by 15 Calcium Release Channel (Ryanodine Receptor) Mutations Associated with Malignant Hyperthermia and/or Central Core Disease* , 1997, The Journal of Biological Chemistry.
[39] G. Meissner,et al. Luminal loop of the ryanodine receptor: a pore-forming segment? , 1999, Proceedings of the National Academy of Sciences of the United States of America.