Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes - Wikidata - wikimedia - TriplyDB

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

http://www.wikidata.org/entity/Q35250357

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Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice Modulating mitochondrial quality in disease transmission: towards enabling mitochondrial DNA disease carriers to have healthy children Evolutionary defined role of the mitochondrial DNA in fertility, disease and ageing Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation Mitochondrial DNA disease and developmental implications for reproductive strategies Mutation and evolutionary rates in adélie penguins from the antarctic New evidence confirms that the mitochondrial bottleneck is generated without reduction of mitochondrial DNA content in early primordial germ cells of mice.A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck.Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).Transmission of mitochondrial DNA diseases and ways to prevent them.Regulation of mitochondrial genome inheritance by autophagy and ubiquitin-proteasome system: implications for health, fitness, and fertility Does mtDNA nucleoid organization impact aging?The strength and timing of the mitochondrial bottleneck in salmon suggests a conserved mechanism in vertebrates.Random genetic drift determines the level of mutant mtDNA in human primary oocytes Mitochondrial ATP synthase: architecture, function and pathology.PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring.Mitochondrial genetics '98 is the bottleneck cracked?Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993 Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans.Mitochondrial nucleoids maintain genetic autonomy but allow for functional complementation.The awakening of an advanced malignant cancer: an insult to the mitochondrial genome The development of novel quantification assay for mitochondrial DNA heteroplasmy aimed at preimplantation genetic diagnosis of Leigh encephalopathy.Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy.Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease.Dynamic regulation of mitochondrial genome maintenance in germ cells.Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy.Transmission, inheritance and replication of mitochondrial DNA in mammals: implications for reproductive processes and infertility.mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development.Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis.Novel reproductive technologies to prevent mitochondrial disease.Genetic Counselling for Maternally Inherited Mitochondrial Disorders.Systematic segregation to mutant mitochondrial DNA and accompanying loss of mitochondrial DNA in human NT2 teratocarcinoma Cybrids.Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene.Mitochondrial DNA mutation load: chance or destiny?Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis.Tissue specific distribution of the 3243A->G mtDNA mutation.Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome.

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P2860

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

http://www.wikidata.org/entity/Q35250357

description

1997 nî lūn-bûn

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1997 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

1997 թվականի հունիսին հրատարակված գիտական հոդված

@hy

1997年の論文

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1997年論文

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1997年論文

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1997年論文

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1997年論文

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1997年論文

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1997年论文

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name

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

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Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

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type

label

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

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Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

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prefLabel

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

@ast

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

@en

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P1433

American Journal of Human Genetics

P1476

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

@en

P2093

Blok RB

http://www.w3.org/2001/XMLSchema#string

Dahl HH

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Gook DA

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Thorburn DR

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P2860

Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes

Sequence and organization of the human mitochondrial genome

Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins.

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Unequal partitioning of bovine mitochondrial genotypes among siblings

Replacement of bovine mitochondrial DNA by a sequence variant within one generation.

A new point mutation associated with mitochondrial encephalomyopathy.

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

Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms

Rearranged mitochondrial genomes are present in human oocytes.

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1495-1501

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10.1086/515453

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6

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60

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1997-06-01T00:00:00Z

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9199572

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