Literature DB >> 14627692

Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load.

L-J C Wong1, C-L Perng, C-H Hsu, R-K Bai, S Schelley, G D Vladutiu, H Vogel, G M Enns.   

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Year:  2003        PMID： 14627692      PMCID： PMC1735312          DOI： 10.1136/jmg.40.11.e125

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


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  14 in total

1.  Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease.

Authors:  Ren-Kui Bai; Lee-Jun C Wong
Journal:  J Mol Diagn       Date:  2005-11       Impact factor: 5.568

2.  Induced pluripotent stem cells generated from diabetic patients with mitochondrial DNA A3243G mutation.

Authors:  J Fujikura; K Nakao; M Sone; M Noguchi; E Mori; M Naito; D Taura; M Harada-Shiba; I Kishimoto; A Watanabe; I Asaka; K Hosoda; K Nakao
Journal:  Diabetologia       Date:  2012-03-07       Impact factor: 10.122

3.  Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.

Authors:  Tuomas Komulainen; Milla-Riikka Hautakangas; Reetta Hinttala; Salla Pakanen; Vesa Vähäsarja; Petri Lehenkari; Päivi Olsen; Päivi Vieira; Outi Saarenpää-Heikkilä; Johanna Palmio; Hannu Tuominen; Pietari Kinnunen; Kari Majamaa; Heikki Rantala; Johanna Uusimaa
Journal:  JIMD Rep       Date:  2015-05-05

4.  A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency.

Authors:  L-J C Wong; D Yim; R-K Bai; H Kwon; M M Vacek; J Zane; C L Hoppel; D S Kerr
Journal:  J Med Genet       Date:  2006-09       Impact factor: 6.318

5.  Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.

Authors:  Penelope E Bonnen; John W Yarham; Arnaud Besse; Ping Wu; Eissa A Faqeih; Ali Mohammad Al-Asmari; Mohammad A M Saleh; Wafaa Eyaid; Alrukban Hadeel; Langping He; Frances Smith; Shu Yau; Eve M Simcox; Satomi Miwa; Taraka Donti; Khaled K Abu-Amero; Lee-Jun Wong; William J Craigen; Brett H Graham; Kenneth L Scott; Robert McFarland; Robert W Taylor
Journal:  Am J Hum Genet       Date:  2013-08-29       Impact factor: 11.025

6.  Atheromatosis of the Scalp: A Novel Feature of Chronic Progressive External Ophthalmoplegia Plus Due to a Single Mitochondrial DNA Deletion.

Authors:  Josef Finsterer
Journal:  Cureus       Date:  2021-12-23

7.  Mitochondrial DNA content varies with pathological characteristics of breast cancer.

Authors:  Ren-Kui Bai; Julia Chang; Kun-Tu Yeh; Mary Ann Lou; Jyh-Feng Lu; Duan-Jun Tan; Hao Liu; Lee-Jun C Wong
Journal:  J Oncol       Date:  2011-10-17       Impact factor: 4.375

8.  Significance of somatic mutations and content alteration of mitochondrial DNA in esophageal cancer.

Authors:  Duan-Jun Tan; Julia Chang; Ling-Ling Liu; Ren-Kui Bai; Yu-Fen Wang; Kun-Tu Yeh; Lee-Jun C Wong
Journal:  BMC Cancer       Date:  2006-04-18       Impact factor: 4.430

9.  Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle.

Authors:  John P Grady; Julie L Murphy; Emma L Blakely; Ronald G Haller; Robert W Taylor; Doug M Turnbull; Helen A L Tuppen
Journal:  PLoS One       Date:  2014-12-04       Impact factor: 3.240

10.  Mitochondrial toxicity studied with the PBMC of children from the Chinese national pediatric highly active antiretroviral therapy cohort.

Authors:  Kai Liu; Yu Sun; Daojie Liu; Jiming Yin; Luxin Qiao; Ying Shi; Yaowu Dong; Ning Li; Fujie Zhang; Dexi Chen
Journal:  PLoS One       Date:  2013-02-27       Impact factor: 3.240
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