Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
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RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvementThe rise of mitochondria in medicineMitochondrial disorders in children: toward development of small-molecule treatment strategiesMitochondrial disease in adults: what's old and what's new?Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communitiesOmics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism InvestigationsDynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative DiseasesTRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesRecurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsA Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex DeficienciesRecessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.Reduced TRMU expression increases the sensitivity of hair-cell-like HEI-OC-1 cells to neomycin damage in vitroRecurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberPathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyNew perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.Whole exome sequencing of suspected mitochondrial patients in clinical practice.Phenotypic variability of TRPV4 related neuropathies.Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?Clinical applications of next generation sequencing in cancer: from panels, to exomes, to genomes.Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system.Spectrum of combined respiratory chain defects.Mitochondrial transcript maturation and its disordersDefective Expression of the Mitochondrial-tRNA Modifying Enzyme GTPBP3 Triggers AMPK-Mediated Adaptive Responses Involving Complex I Assembly Factors, Uncoupling Protein 2, and the Mitochondrial Pyruvate Carrier.Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case reportNucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.Mitochondrial disease: genetics and management.Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.Elongator-dependent modification of cytoplasmic tRNALysUUU is required for mitochondrial function under stress conditions.Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.Human mitochondrial ribosomes can switch their structural RNA composition.The genetics and pathology of mitochondrial disease.Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.
P2860
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P2860
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh-hant
name
Use of whole-exome sequencing ...... ry chain complex deficiencies.
@en
Use of whole-exome sequencing ...... ry chain complex deficiencies.
@nl
type
label
Use of whole-exome sequencing ...... ry chain complex deficiencies.
@en
Use of whole-exome sequencing ...... ry chain complex deficiencies.
@nl
prefLabel
Use of whole-exome sequencing ...... ry chain complex deficiencies.
@en
Use of whole-exome sequencing ...... ry chain complex deficiencies.
@nl
P2093
P50
P356
P1476
Use of whole-exome sequencing ...... ry chain complex deficiencies.
@en
P2093
Andrew A M Morris
Andrew Best
Beril Talim
Birgit Czermin
Elke Holinski-Feder
Grace Vassallo
Jennifer Duff
John W Yarham
Langping He
P356
10.1001/JAMA.2014.7184
P407
P50
P577
2014-07-01T00:00:00Z