Literature DB >> 24391349

Cardiac manifestations of mitochondrial disorders.

Deborah E Meyers1, Haseeb Ilias Basha1, Mary Kay Koenig1.   

Abstract

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Year:  2013        PMID： 24391349      PMCID： PMC3853826     

Source DB:  PubMed          Journal:  Tex Heart Inst J        ISSN： 0730-2347


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  6 in total

1.  Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.

Authors:  Ruth Belostotsky; Efrat Ben-Shalom; Choni Rinat; Rachel Becker-Cohen; Sofia Feinstein; Sharon Zeligson; Reeval Segel; Orly Elpeleg; Suheir Nassar; Yaacov Frishberg
Journal:  Am J Hum Genet       Date:  2011-01-20       Impact factor: 11.025

2.  Association of the level of heteroplasmy of the 15059G>A mutation in the MT-CYB mitochondrial gene with essential hypertension.

Authors:  Igor A Sobenin; Dimitry A Chistiakov; Margarita A Sazonova; Maria M Ivanova; Yuri V Bobryshev; Alexander N Orekhov; Anton Y Postnov
Journal:  World J Cardiol       Date:  2013-05-26

Review 3.  Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.

Authors:  Deborah E Meyers; Haseeb Ilias Basha; Mary Kay Koenig
Journal:  Tex Heart Inst J       Date:  2013

4.  Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

Authors:  Alessia Indrieri; Vanessa Alexandra van Rahden; Valeria Tiranti; Manuela Morleo; Daniela Iaconis; Roberta Tammaro; Ilaria D'Amato; Ivan Conte; Isabelle Maystadt; Stephanie Demuth; Alex Zvulunov; Kerstin Kutsche; Massimo Zeviani; Brunella Franco
Journal:  Am J Hum Genet       Date:  2012-11-02       Impact factor: 11.025

5.  Metabolism and bioenergetics in the right ventricle and pulmonary vasculature in pulmonary hypertension.

Authors:  Stephen L Archer; Yong-Hu Fang; John J Ryan; Lin Piao
Journal:  Pulm Circ       Date:  2013-01       Impact factor: 3.017

6.  A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.

Authors:  Henry Rivera; Elena Martín-Hernández; Aitor Delmiro; María Teresa García-Silva; Pilar Quijada-Fraile; Rafael Muley; Joaquín Arenas; Miguel A Martín; Francisco Martínez-Azorín
Journal:  BMC Nephrol       Date:  2013-09-13       Impact factor: 2.388
  6 in total
  2 in total

Review 1.  Accelerated Cardiac Aging in Patients With Congenital Heart Disease.

Authors:  Dominga Iacobazzi; Valeria Vincenza Alvino; Massimo Caputo; Paolo Madeddu
Journal:  Front Cardiovasc Med       Date:  2022-05-26

Review 2.  Histopathology in HCM.

Authors:  Beatriz San Millán Tejado; Cristina Jou
Journal:  Glob Cardiol Sci Pract       Date:  2018-08-12
  2 in total

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