Literature DB >> 9915970

Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation.

F M Santorelli, K Tanji, P Manta, C Casali, S Krishna, A P Hays, D M Mancini, S DiMauro, M Hirano.   

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Year:  1999        PMID： 9915970      PMCID： PMC1377729          DOI： 10.1086/302188

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


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  27 in total

1.  Transmitochondrial mice: proof of principle and promises.

Authors:  M Hirano
Journal:  Proc Natl Acad Sci U S A       Date:  2001-01-16       Impact factor: 11.205

2.  The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees.

Authors:  Hong Chen; Jing Zheng; Ling Xue; Yanzi Meng; Yan Wang; Bingjiao Zheng; Fang Fang; Suxue Shi; Qiaomeng Qiu; Pingping Jiang; Zhongqiu Lu; Jun Qin Mo; Jianxin Lu; Min-Xin Guan
Journal:  Eur J Hum Genet       Date:  2012-02-08       Impact factor: 4.246

Review 3.  Genetic causes of human heart failure.

Authors:  Hiroyuki Morita; Jonathan Seidman; Christine E Seidman
Journal:  J Clin Invest       Date:  2005-03       Impact factor: 14.808

4.  Mitochondrial transfer RNAMet 4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree.

Authors:  Yuqi Liu; Ronghua Li; Zongbin Li; Xin-Jian Wang; Li Yang; Shiwen Wang; Min-Xin Guan
Journal:  Hypertension       Date:  2009-04-27       Impact factor: 10.190

5.  A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia.

Authors:  David K Simon; Jennifer Friedman; Xandra O Breakefield; Joseph Jankovic; Mitchell F Brin; John Provias; Susan B Bressman; Michael E Charness; Daniel Tarsy; Donald R Johns; Mark A Tarnopolsky
Journal:  Neurogenetics       Date:  2003-05-17       Impact factor: 2.660

6.  Antenatal manifestations of mitochondrial disorders.

Authors:  Mariana Vide Tavares; Maria João Santos; Ana Patrícia Domingues; João Pratas; Cândida Mendes; Marta Simões; Paulo Moura; Luísa Diogo; Manuela Grazina
Journal:  J Inherit Metab Dis       Date:  2013-01-30       Impact factor: 4.982

7.  Myocardial oxidative stress, osteogenic phenotype, and energy metabolism are differentially involved in the initiation and early progression of delta-sarcoglycan-null cardiomyopathy.

Authors:  Comlan Missihoun; David Zisa; Arsalan Shabbir; Huey Lin; Techung Lee
Journal:  Mol Cell Biochem       Date:  2008-08-26       Impact factor: 3.396

8.  Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family.

Authors:  Ronghua Li; Yuqi Liu; Zongbin Li; Li Yang; Shiwen Wang; Min-Xin Guan
Journal:  Hypertension       Date:  2009-06-22       Impact factor: 10.190

9.  Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey.

Authors:  M Tekin; T Duman; G Boğoçlu; A İncesulu; E Çomak; S Fitoz; E Yılmaz; I İlhan; N Akar
Journal:  Eur J Pediatr       Date:  2003-01-21       Impact factor: 3.183

10.  Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals.

Authors:  Ray E Hershberger; Ana Morales; Jill D Siegfried
Journal:  Genet Med       Date:  2010-11       Impact factor: 8.822
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