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Literature DB >> 8213827

An A-to-G transition at nucleotide pair 11084 in the ND4 gene may be an mtDNA polymorphism.

R Sakuta, Y Goto, I Nonaka, S Horai.

Abstract

Entities: Gene Mutation

Mesh：

Substances：

Year: 1993 PMID： 8213827 PMCID： PMC1682373

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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8 in total

1. Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy.

Authors: K Huoponen; J Vilkki; M L Savontaus; P Aula; E K Nikoskelainen
Journal: Genomics Date: 1990-11 Impact factor: 5.736

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

Authors: Y Goto; I Nonaka; S Horai
Journal: Nature Date: 1990-12-13 Impact factor: 49.962

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

Authors: J M Shoffner; M T Lott; A M Lezza; P Seibel; S W Ballinger; D C Wallace
Journal: Cell Date: 1990-06-15 Impact factor: 41.582

4. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

Authors: D C Wallace; G Singh; M T Lott; J A Hodge; T G Schurr; A M Lezza; L J Elsas; E K Nikoskelainen
Journal: Science Date: 1988-12-09 Impact factor: 47.728

5. Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a comparative study.

Authors: R Sakuta; Y Goto; S Horai; I Nonaka
Journal: J Neurol Sci Date: 1993-04 Impact factor: 3.181

6. Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy.

Authors: T Ozawa; M Tanaka; S Sugiyama; H Ino; K Ohno; K Hattori; T Ohbayashi; T Ito; H Deguchi; K Kawamura
Journal: Biochem Biophys Res Commun Date: 1991-05-31 Impact factor: 3.575

7. An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.

Authors: N Howell; D McCullough
Journal: Am J Hum Genet Date: 1990-10 Impact factor: 11.025

8. A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.

Authors: P Lertrit; A S Noer; M J Jean-Francois; R Kapsa; X Dennett; D Thyagarajan; K Lethlean; E Byrne; S Marzuki
Journal: Am J Hum Genet Date: 1992-09 Impact factor: 11.025

8 in total

7 in total

An A-to-G transition at nucleotide pair 11084 in the ND4 gene may be an mtDNA polymorphism.

1. Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy.

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

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

4. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

5. Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a comparative study.

6. Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy.

7. An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.

8. A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.

1. The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients.

Review 2. Mitochondrial DNA mutations and pathogenesis.

3. Mitochondrial gene mutations and human diseases: a prolegomenon.

4. A MELAS syndrome family harboring two mutations in mitochondrial genome.

Review 5. Mitochondrial encephalomyopathies: clinical and molecular analysis.

6. Phylogeny and patterns of diversity of goat mtDNA haplogroup A revealed by resequencing complete mitogenomes.

7. Screening of the A11084G Polymorphism and Scanning of a Mitochondrial Genome SNP in Korean Migraineurs.