Molecular basis of AMP deaminase deficiency in skeletal muscle
about
Regulation of rat AMP deaminase 3 (isoform C) by development and skeletal muscle fibre typeFunctionally distinct elements are required for expression of the AMPD1 gene in myocytesAMP deaminase 1 gene polymorphism and heart disease-a genetic association that highlights new treatmentMyoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humansProteinuria in AMPD2-deficient miceAMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiencyAMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseasesEcto- and cytosolic 5'-nucleotidases in normal and AMP deaminase-deficient human skeletal muscle.Cataloging coding sequence variations in human genome databasesAlternative splicing: a mechanism for phenotypic rescue of a common inherited defectPatient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing.AMP deaminase deficiency is associated with lower sprint cycling performance in healthy subjects.Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with coronary artery disease or heart failure.Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathiesCirculating adenosine increases during human experimental endotoxemia but blockade of its receptor does not influence the immune response and subsequent organ injury.Global transcriptome and gene regulation network for secondary metabolite biosynthesis of tea plant (Camellia sinensis).A polymorphism of the gene encoding AMPD1: clinical impact and proposed mechanisms in congestive heart failure.AMPD1 polymorphism and response to regadenosonEffect of isolated AMP deaminase deficiency on skeletal muscle function.A next-generation microarray further reveals stage-enriched gene expression pattern in the blood fluke Schistosoma japonicum.Metabolic myopathies: functional evaluation by different exercise testing approaches.Genes for elite power and sprint performance: ACTN3 leads the way.Three decades of low-dose methotrexate in rheumatoid arthritis: can we predict toxicity?The sarcomeric M-region: a molecular command center for diverse cellular processes.Genetic polymorphisms associated with heart failure: A literature review.Simple oxygraphic analysis for the presence of adenylate kinase 1 and 2 in normal and tumor cells.Deletion of hexose-6-phosphate dehydrogenase activates the unfolded protein response pathway and induces skeletal myopathy.Pharmacogenomics of heart failure: a systematic review.Polymorphisms influencing muscle phenotypes in North-African and Spanish populations.Moving toward personalized medicine in rheumatoid arthritis: SNPs in methotrexate intracellular pathways are associated with methotrexate therapeutic outcome.A novel bipartite intronic splicing enhancer promotes the inclusion of a mini-exon in the AMP deaminase 1 gene.C34T mutation of the AMPD1 gene in an elite white runnerNew method for detection of C34-T mutation in the AMPD1 gene causing myoadenylate deaminase deficiencyRegulation of skeletal muscle ATP catabolism by AMPD1 genotype during sprint exercise in asymptomatic subjects.Effect of AMPD1 gene polymorphism on muscle activity in humans.Associations between cardiorespiratory responses to exercise and the C34T AMPD1 gene polymorphism in the HERITAGE Family Study.Skeletal muscle contractile performance and ADP accumulation in adenylate kinase-deficient mice.Cytoplasmic ATP-sensing domains regulate gating of skeletal muscle ClC-1 chloride channels.Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions.Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.
P2860
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P2860
Molecular basis of AMP deaminase deficiency in skeletal muscle
description
1992 nî lūn-bûn
@nan
1992 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Molecular basis of AMP deaminase deficiency in skeletal muscle
@ast
Molecular basis of AMP deaminase deficiency in skeletal muscle
@en
Molecular basis of AMP deaminase deficiency in skeletal muscle
@nl
type
label
Molecular basis of AMP deaminase deficiency in skeletal muscle
@ast
Molecular basis of AMP deaminase deficiency in skeletal muscle
@en
Molecular basis of AMP deaminase deficiency in skeletal muscle
@nl
prefLabel
Molecular basis of AMP deaminase deficiency in skeletal muscle
@ast
Molecular basis of AMP deaminase deficiency in skeletal muscle
@en
Molecular basis of AMP deaminase deficiency in skeletal muscle
@nl
P2093
P2860
P356
P1476
Molecular basis of AMP deaminase deficiency in skeletal muscle
@en
P2093
P2860
P304
P356
10.1073/PNAS.89.14.6457
P407
P577
1992-07-15T00:00:00Z