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

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

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

http://www.wikidata.org/entity/Q35196300

about

Keeping mtDNA in shape between generations Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry Mitochondrial DNA disease and developmental implications for reproductive strategies Mitochondrial mosaics in the liver of 3 infants with mtDNA defects 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.Regionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with myoclonic epilepsy with ragged-red fibers (MERRF-syndrome).Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: comparing the mtDNA genetic bottleneck in mice and humans.Mitochondrial genotype segregation in a mouse heteroplasmic lineage produced by embryonic karyoplast transplantation.Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.The frequency of heteroplasmy in the HVII region of mtDNA differs across tissue types and increases with age.Increased mitochondrial mass in mitochondrial myopathy mice Mitochondrial genetics '98 is the bottleneck cracked?Mitochondrial dynamics and inheritance during cell division, development and disease.Mitochondrial DNA mutations in disease and aging Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes Presence of mitochondrial tRNA(Leu(UUR)) A to G 3243 mutation in DNA extracted from serum and plasma of patients with type 2 diabetes mellitus.Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations.Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck Preventing the transmission of pathogenic mitochondrial DNA mutations: Can we achieve long-term benefits from germ-line gene transfer?Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood The distribution of mitochondrial DNA heteroplasmy due to random genetic drift.A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease.Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation The inheritance of pathogenic mitochondrial DNA mutations.Dynamic regulation of mitochondrial genome maintenance in germ cells.Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR.Mitochondrial matters: Mitochondrial bottlenecks, self-assembling structures, and entrapment in the female germline.Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt.A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation.Transmission of mtDNA: cracks in the bottleneck.Mitochondrial genetics: principles and practice.

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P2860

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

http://www.wikidata.org/entity/Q35196300

description

1992 nî lūn-bûn

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1992 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

1992 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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1992年の論文

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1992年論文

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1992年論文

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1992年論文

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1992年論文

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1992年論文

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1992年论文

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name

Segregation and manifestations ...... ed-red fibers (MERRF) syndrome

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Segregation and manifestations ...... ed-red fibers (MERRF) syndrome

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Segregation and manifestations ...... ed-red fibers (MERRF) syndrome

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Segregation and manifestations ...... ed-red fibers (MERRF) syndrome

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Segregation and manifestations ...... ed-red fibers (MERRF) syndrome

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Segregation and manifestations ...... ed-red fibers (MERRF) syndrome

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American Journal of Human Genetics

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Segregation and manifestations ...... ed-red fibers (MERRF) syndrome

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P2093

Aasly J

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Andersen O

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Holme E

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Oldfors A

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Tulinius MH

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Wahlström J

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P2860

Maternal inheritance of human mitochondrial DNA

Sequence and organization of the human mitochondrial genome

Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study.

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.

A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers.

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature.

A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.

Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy.

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1201-1212

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scholarly article

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6

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51

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Nils-Göran Larsson

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1992-12-01T00:00:00Z

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1463006

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1682923

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