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Patient specific Induced Pluripotent Stem Cells with high mutational load (ND3high - iPSC) showed a distinct metabolite profile compared with ND3low - iPSC and control-iPSCs. Metabolites that contributed to this distinction were pyruvate, malic acid, palmitic acid, stearic acid, and lactic acid.
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rs28358278, rs2853826, and rs41467651 polymorphisms of MTND3 increase the susceptibility to gastric cancer development.
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we did not find somatic mutations in the sequence of the ATP6 and/or ND3 genes in postmenopausal Mexican-Mestizo women with breast cancer
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Disruption of FASTKD1 increases ND3 mRNA level. Disruption of FASTKD4 reduces it. Very low levels of FASTKD4 are sufficient to prevent ND3 loss.
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genetic variants not associated with aggressive prostate cancer in overweight or obese Mexicans
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In the current study, we first took clinical and molecular datasets from case-control studies to determine the association between the ND3 G10398A mutation and breast cancer.
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Earlier age at onset was noted in male Chinese Machado-Joseph disease patients with MT-ND3 gene 10398A polymorphism
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Study identified cancer-specific somatic variants in the ND2 and ND3 regions, and the presence of these mutated DNAs in the serum during the postoperative period accurately predicted poor prognoses in oral squamous cell carcinomas.
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The 10398G allele and Haplogroup I appear to confer significant protective effects for Fuchs endothelial corneal dystrophy
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Hypoxia, oxidative stress, and saturated fatty acids impacted mitochondrial-mediated cell apoptosis and had promotion on MT-ND3 expression in hepatocytes.
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Point mutations m.10191T>C in mitochondrial ND3 gene, m.13513G>A in ND5 gene and m.14,453G>A in ND6 gene were detected in three Chinese children with Leigh synrome dur to complex I deficiency.
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this short clinical review we evaluate the case reports of the m.10191T>C mutation causing complex I-deficient Leigh syndrome described in the literature.
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mitochondrial ND3 gene mutation may have a role in causing in Leigh syndrome with early lethality
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This is the first description of infantile Leigh syndrome due to a maternally transmitted T10191C substitution in ND3 and not due to a de novo mutation.
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These results show that the 10197G>A mutation in the mitochondrial ND3 gene should be considered as a common mtDNA mutation responsible for Leigh syndrome and dystonia.
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study reports a novel heteroplasmic m.10197G>A mutation in the ND3 gene in three Korean children with bilateral basal ganglia lesions and partial deficiencies of respiratory chain complex I activity
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These findings suggest that the clinical presentations associated with the mtND3*10197A (m.10197G>A) mutation (ND3) are much wider, encompassing those of LDYT and Leigh syndrome.
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2 cases with a MELAS-like phenotype with additional unique features of epilepsia partialis continua accompanied by evolving lesions of the rolandic & calcarine cortices; both carried mutations in the MT-ND3 gene -- mt.10158T>C & mt.10191T>C
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mutations in the ND3 and ND5 genes in patients showing clinical features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes