Literature DB >> 8728705

Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus.

A W Thomas1, A Edwards, E J Sherratt, A Majid, J Gagg, J C Alcolado.   

Abstract

Mitochondrial DNA (mtDNA) gene defects may play a role in the development of non-insulin dependent diabetes mellitus (NIDDM). In order to search for potentially diabetogenic mtDNA defects we have applied the technique of single stranded conformational polymorphism (SSCP) analysis to 124 patients with a history of NIDDM and 40 non-diabetic controls. No new heteroplasmic mutations were detected. However, a variety of homoplasmic variants were found in patients with NIDDM; some of these merit further investigation.

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8728705      PMCID： PMC1051881          DOI： 10.1136/jmg.33.3.253

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  9 in total

Review 1.  Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases.

Authors:  M D Brown; A S Voljavec; M T Lott; I MacDonald; D C Wallace
Journal:  FASEB J       Date:  1992-07       Impact factor: 5.191

2.  The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis.

Authors:  A W Thomas; R Morgan; M Sweeney; A Rees; J Alcolado
Journal:  Hum Genet       Date:  1994-12       Impact factor: 4.132

3.  Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO)

Authors:  Y Hattori; Y Goto; R Sakuta; I Nonaka; Y Mizuno; S Horai
Journal:  J Neurol Sci       Date:  1994-08       Impact factor: 3.181

4.  Mitochondrial diabetes revisited.

Authors:  S W Ballinger; J M Shoffner; S Gebhart; D A Koontz; D C Wallace
Journal:  Nat Genet       Date:  1994-08       Impact factor: 38.330

5.  Importance of maternal history of non-insulin dependent diabetic patients.

Authors:  J C Alcolado; R Alcolado
Journal:  BMJ       Date:  1991-05-18

6.  A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

Authors:  F M Reid; G A Vernham; H T Jacobs
Journal:  Hum Mutat       Date:  1994       Impact factor: 4.878

7.  Mitochondrial gene defects in patients with NIDDM.

Authors:  J C Alcolado; A Majid; M Brockington; M G Sweeney; R Morgan; A Rees; A E Harding; A H Barnett
Journal:  Diabetologia       Date:  1994-04       Impact factor: 10.122

8.  Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

Authors:  V Tiranti; P Chariot; F Carella; A Toscano; P Soliveri; P Girlanda; F Carrara; G M Fratta; F M Reid; C Mariotti; M Zeviani
Journal:  Hum Mol Genet       Date:  1995-08       Impact factor: 6.150

9.  Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy.

Authors:  G M Fabrizi; V Tiranti; C Mariotti; G C Guazzi; A Malandrini; S DiDonato; M Zeviani
Journal:  J Neurol       Date:  1995-08       Impact factor: 4.849
  9 in total
  8 in total

1.  Pitfalls in the diagnosis of mtDNA mutations.

Authors:  S Seneca; W Lissens; I Liebaers; P van den Bergh; M C Nassogne; A Benatar; L de Meirleir
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318

2.  Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome.

Authors:  M J Rieder; S L Taylor; V O Tobe; D A Nickerson
Journal:  Nucleic Acids Res       Date:  1998-02-15       Impact factor: 16.971

3.  Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes.

Authors:  S K Bidooki; M A Johnson; Z Chrzanowska-Lightowlers; L A Bindoff; R N Lightowlers
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

4.  Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.

Authors:  A Deik; B Johannes; J C Rucker; E Sánchez; S E Brodie; E Deegan; K Landy; Y Kajiwara; S Scelsa; R Saunders-Pullman; C Paisán-Ruiz
Journal:  J Neurol       Date:  2014-09-30       Impact factor: 4.849

5.  Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns.

Authors:  Karen L Mohlke; Anne U Jackson; Laura J Scott; Erin C Peck; Yong D Suh; Peter S Chines; Richard M Watanabe; Thomas A Buchanan; Karen N Conneely; Michael R Erdos; Narisu Narisu; Sareena Enloe; Timo T Valle; Jaakko Tuomilehto; Richard N Bergman; Michael Boehnke; Francis S Collins
Journal:  Hum Genet       Date:  2005-11-15       Impact factor: 4.132

6.  Investigation on mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian multiple sclerosis patients.

Authors:  Solmaz Etemad Ahari; Massoud Houshmand; Mehdi Shafa Shariat Panahi; Sadaf Kasraie; Mostafa Moin; Mohammad Ali Bahar
Journal:  Cell Mol Neurobiol       Date:  2007-07-06       Impact factor: 5.046

7.  Increased variation in mtDNA in patients with familial sensorineural hearing impairment.

Authors:  Mervi S Lehtonen; Jukka S Moilanen; Kari Majamaa
Journal:  Hum Genet       Date:  2003-06-12       Impact factor: 4.132

8.  Investigation of tRNA and ATPase 6/8 gene mutations in Iranian ataxia telangiectasia patients.

Authors:  Massoud Houshmand; Sadaf Kasraie; Solmaz Etemad Ahari; Mostafa Moin; Mohammadali Bahar; Akram Zamani
Journal:  Arch Med Sci       Date:  2011-07-11       Impact factor: 3.318
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.