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Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease
Objectives. The aim of this study was to elucidate the frequency of major clinical manifestations in children with mitochondrial disease and establish their clinical course, prognosis, and rates ofExpand
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G protein-coupled receptor kinase 4 gene variants in human essential hypertension
Essential hypertension has a heritability as high as 30–50%, but its genetic cause(s) has not been determined despite intensive investigation. The renal dopaminergic system exerts a pivotal role inExpand
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Comprehensive scanning of somatic mitochondrial DNA mutations in breast cancer.
To investigate the role of mitochondrial DNA (mtDNA) in tumorigenesis, a temporal temperature gradient gel electrophoresis method was used to analyze the somatic mtDNA mutations in breast cancer. TheExpand
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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
Mutations in the POLG gene have emerged as one of the most common causes of inherited mitochondrial disease in children and adults. They are responsible for a heterogeneous group of at least 6 majorExpand
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Mitochondrial genetic background modifies breast cancer risk.
Inefficient mitochondrial electron transport chain (ETC) function has been implicated in the vicious cycle of reactive oxygen species (ROS) production that may predispose an individual to late onsetExpand
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MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
Mitochondrial DNA depletion syndromes are autosomal recessive diseases characterized by a severe decrease in mitochondrial DNA content leading to dysfunction of the affected organ. They areExpand
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GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment
BackgroundMutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among differentExpand
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Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum
Mutations in the POLG gene have emerged as one of the most common causes of inherited mitochondrial diseases in children and adults. This study sequenced the exons and flanking intronic regions ofExpand
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Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach.
BACKGROUND The A3243G mitochondrial tRNA leu(UUR) point mutation causes mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, the most commonExpand
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Current molecular diagnostic algorithm for mitochondrial disorders.
Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due in part to the biochemical complexity of mitochondrial respiration and the factExpand
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