Literature DB >> 24391348

Cardiac manifestations of mitochondrial disorders.

Josef Finsterer1, Sinda Zarrouk-Mahjoub1.   

Abstract

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Mesh：

Year:  2013        PMID： 24391348      PMCID： PMC3853811     

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.  Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.

Authors:  Obaid Ur Rahman; Nadeem Khawar; Muhammad Aman Khan; Jawad Ahmed; Kamran Khattak; Jumana Yousuf Al-Aama; Muhammad Naeem; Musharraf Jelani
Journal:  Diagn Pathol       Date:  2013-05-09       Impact factor: 2.644

5.  Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features.

Authors:  Carla Giordano; Elena Perli; Maurizia Orlandi; Annalinda Pisano; Helen A Tuppen; Langping He; Rocco Ierinò; Luciano Petruzziello; Amedeo Terzi; Camillo Autore; Vincenzo Petrozza; Pietro Gallo; Robert W Taylor; Giulia d'Amati
Journal:  Hum Pathol       Date:  2013-01-17       Impact factor: 3.466

6.  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
  6 in total
  2 in total

1.  Mitochondrial Dysfunction in Cyanotic Congenital Heart Disease: A Promising Therapeutic Approach for the Future.

Authors:  Zeynep Ucar; Tayfun Hilmi Akbaba; Ayse Tulay Aydinoglu; Sevgen Celik Onder; Banu Balci-Peynircioglu; Metin Demircin; Burcu Balci-Hayta
Journal:  Pediatr Cardiol       Date:  2022-05-10       Impact factor: 1.838

Review 2.  Mitochondria in skin health, aging, and disease.

Authors:  Annapoorna Sreedhar; Leopoldo Aguilera-Aguirre; Keshav K Singh
Journal:  Cell Death Dis       Date:  2020-06-09       Impact factor: 8.469
  2 in total

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