Pathogenic mitochondrial DNA mutations are common in the general population
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Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA diseaseMitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosisMitochondrial disease in adults: what's old and what's new?Sleep disorders associated with primary mitochondrial diseasesMitochondrial dynamism and heart disease: changing shape and shaping changeMitochondrial disorders: challenges in diagnosis & treatmentWhy mitochondria must fuse to maintain their genome integrityMitochondrial genome changes and neurodegenerative diseasesEvolutionary defined role of the mitochondrial DNA in fertility, disease and ageingBiochemical diagnosis of mitochondrial disordersAn Overview of Genetic Changes and Risk of Pancreatic Ductal AdenocarcinomaMitochondrial DNA heteroplasmy in the emerging field of massively parallel sequencingMitochondrial regulation of β-cell function: maintaining the momentum for insulin releaseIs the World of ART Ready for a Ménage à Trois?Toward a mtDNA locus-specific mutation database using the LOVD platformHistorical perspective on mitochondrial medicineCardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management.Mitochondrial DNA mutations affect calcium handling in differentiated neurons.OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background.EFNS guidelines on the molecular diagnosis of mitochondrial disorders.Fluorescent duplex allele-specific PCR and amplicon melting for rapid homogeneous mtDNA haplogroup H screening and sensitive mixture detection.Colloquium paper: bioenergetics, the origins of complexity, and the ascent of man.A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck.MitoRS, a method for high throughput, sensitive, and accurate detection of mitochondrial DNA heteroplasmy.Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations.Folate deficiency as predisposing factor for childhood leukaemia: a review of the literature.Mitochondrial DNA haplogroups and risk of transient ischaemic attack and ischaemic stroke: a genetic association studyTreatment of mitochondrial disorders.Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins.The role of mitochondrial DNA copy number in mammalian fertility.Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals.Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles.Towards germline gene therapy of inherited mitochondrial diseases.Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring.Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming.New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.mtDNA germ line variation mediated ROS generates retrograde signaling and induces pro-cancerous metabolic featuresTissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model.Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients
P2860
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P2860
Pathogenic mitochondrial DNA mutations are common in the general population
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Pathogenic mitochondrial DNA mutations are common in the general population
@ast
Pathogenic mitochondrial DNA mutations are common in the general population
@en
type
label
Pathogenic mitochondrial DNA mutations are common in the general population
@ast
Pathogenic mitochondrial DNA mutations are common in the general population
@en
prefLabel
Pathogenic mitochondrial DNA mutations are common in the general population
@ast
Pathogenic mitochondrial DNA mutations are common in the general population
@en
P2860
P50
P1476
Pathogenic mitochondrial DNA mutations are common in the general population
@en
P2093
James A Eden
P2860
P304
P356
10.1016/J.AJHG.2008.07.004
P407
P577
2008-08-01T00:00:00Z