Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. - Wikidata - wikimedia - TriplyDB

Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

http://www.wikidata.org/entity/Q34043733

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Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease Mitochondrial genetics Mitochondrial genome changes and neurodegenerative diseases Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation Gimap3 regulates tissue-specific mitochondrial DNA segregation Mitochondrial DNA disease and developmental implications for reproductive strategies Mitochondria: in sickness and in health A 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 genome Rapid 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 mutation Mitochondrial disease: genetics and management.Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood Transmission 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 neurodegeneration Evaluation 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.

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P2860

Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

http://www.wikidata.org/entity/Q34043733

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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Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

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Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

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Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

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Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

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Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

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Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

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Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

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Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

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American Journal of Human Genetics

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Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

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P2093

Marchington D

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Poulton J

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Rahman S

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Suomalainen A

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P2860

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome

A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle

Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing

Enhanced direct amplification of Guthrie card DNA following selective elution of PCR inhibitors.

A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples.

MELAS: clinical features, biochemistry, and molecular genetics.

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.

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