Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
about
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNAPronuclear transfer in human embryos to prevent transmission of mitochondrial DNA diseaseMitochondrial geneticsMitochondrial genome changes and neurodegenerative diseasesGenetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutationGimap3 regulates tissue-specific mitochondrial DNA segregationMitochondrial DNA disease and developmental implications for reproductive strategiesMitochondria: in sickness and in healthA wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck.Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.Transmission of mitochondrial DNA diseases and ways to prevent them.Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status.De novo mtDNA point mutations are common and have a low recurrence risk.PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring.Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.MtDNA segregation in heteroplasmic tissues is common in vivo and modulated by haplotype differences and developmental stage.Mitochondrial replacement: from basic research to assisted reproductive technology portfolio tool-technicalities and possible risks.Neutral mitochondrial heteroplasmy and the influence of aging.Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype.Mitochondrial DNA mutations in the hematopoietic system.The awakening of an advanced malignant cancer: an insult to the mitochondrial genomeRapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation.Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome.Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutationMitochondrial disease: genetics and management.Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in bloodTransmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck.Mitochondrial content is central to nuclear gene expression: Profound implications for human health.Mitochondrial disease in childhood: mtDNA encoded.Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation.Endocrine disorders in mitochondrial disease.Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.The inheritance of pathogenic mitochondrial DNA mutations.The mitochondrial brain: From mitochondrial genome to neurodegenerationEvaluation for secondary causes of headache: the role of blood and urine testing.Insight into mammalian mitochondrial DNA segregation.The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.Whole blood genome-wide expression profiling and network analysis suggest MELAS master regulators.Association of mitochondrial DNA variants with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) symptoms.Genetic Counselling for Maternally Inherited Mitochondrial Disorders.
P2860
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P2860
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
description
2000 nî lūn-bûn
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2000 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի նոյեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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name
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
@ast
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
@en
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
@nl
type
label
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
@ast
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
@en
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
@nl
prefLabel
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
@ast
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
@en
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
@nl
P2093
P2860
P356
P1476
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
@en
P2093
Marchington D
Suomalainen A
P2860
P304
P356
10.1086/316930
P407
P577
2000-11-20T00:00:00Z