Literature DB >> 30863911

Nephrotic syndrome and mitochondrial disorders: answers.

Julie Bernardor1, Camille Faudeux1, Anabelle Chaussenot2, Corinne Antignac3,4, Alice Goldenberg5, Marie Claire Gubler3, Nicole Wagner6, Etienne Bérard7.   

Abstract

Entities:  

Keywords:  Cardiomyopathy; Child; Congenital nephrotic syndrome (CNF); Mitochondrial disorder; NPHS1 mutation

Mesh：

Substances：

Year:  2019        PMID： 30863911     DOI： 10.1007/s00467-019-04217-7

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  18 in total

1.  Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1).

Authors:  Hanne Laakkonen; Tuula Lönnqvist; Johanna Uusimaa; Erik Qvist; Leena Valanne; Matti Nuutinen; Marja Ala-Houhala; Kari Majamaa; Hannu Jalanko; Christer Holmberg
Journal:  Pediatr Nephrol       Date:  2005-12-17       Impact factor: 3.714

2.  Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.

Authors:  Luis Carlos López; Markus Schuelke; Catarina M Quinzii; Tomotake Kanki; Richard J T Rodenburg; Ali Naini; Salvatore Dimauro; Michio Hirano
Journal:  Am J Hum Genet       Date:  2006-10-27       Impact factor: 11.025

3.  Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency.

Authors:  A Rötig; E L Appelkvist; V Geromel; D Chretien; N Kadhom; P Edery; M Lebideau; G Dallner; A Munnich; L Ernster; P Rustin
Journal:  Lancet       Date:  2000-07-29       Impact factor: 79.321

4.  Cardiac malformations associated with the congenital nephrotic syndrome.

Authors:  V Grech; M K Chan; C Vella; S Attard Montalto; P Rees; R S Trompeter
Journal:  Pediatr Nephrol       Date:  2000-10       Impact factor: 3.714

5.  A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.

Authors:  Catarina Quinzii; Ali Naini; Leonardo Salviati; Eva Trevisson; Placido Navas; Salvatore Dimauro; Michio Hirano
Journal:  Am J Hum Genet       Date:  2005-12-22       Impact factor: 11.025

6.  The podocyte protein nephrin is required for cardiac vessel formation.

Authors:  Nicole Wagner; Harris Morrison; Sophie Pagnotta; Jean-Francois Michiels; Yannick Schwab; Karl Tryggvason; Andreas Schedl; Kay-Dietrich Wagner
Journal:  Hum Mol Genet       Date:  2011-03-14       Impact factor: 6.150

7.  Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.

Authors:  Berfin Uysal; Osman Dönmez; Fahrettin Uysal; Okan Akacı; Berna Aytaç Vuruşkan; Afig Berdeli
Journal:  Pediatr Int       Date:  2015       Impact factor: 1.524

8.  Altered gene expression and functions of mitochondria in human nephrotic syndrome.

Authors:  H Holthöfer; M Kretzler; A Haltia; M L Solin; J W Taanman; H Schägger; W Kriz; D Kerjaschki; D Schlöndorff
Journal:  FASEB J       Date:  1999-03       Impact factor: 5.191

Review 9.  Renal involvement in mitochondrial cytopathies.

Authors:  Francesco Emma; Enrico Bertini; Leonardo Salviati; Giovanni Montini
Journal:  Pediatr Nephrol       Date:  2011-06-09       Impact factor: 3.714

10.  ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

Authors:  Shazia Ashraf; Heon Yung Gee; Stephanie Woerner; Letian X Xie; Virginia Vega-Warner; Svjetlana Lovric; Humphrey Fang; Xuewen Song; Daniel C Cattran; Carmen Avila-Casado; Andrew D Paterson; Patrick Nitschké; Christine Bole-Feysot; Pierre Cochat; Julian Esteve-Rudd; Birgit Haberberger; Susan J Allen; Weibin Zhou; Rannar Airik; Edgar A Otto; Moumita Barua; Mohamed H Al-Hamed; Jameela A Kari; Jonathan Evans; Agnieszka Bierzynska; Moin A Saleem; Detlef Böckenhauer; Robert Kleta; Sherif El Desoky; Duygu O Hacihamdioglu; Faysal Gok; Joseph Washburn; Roger C Wiggins; Murim Choi; Richard P Lifton; Shawn Levy; Zhe Han; Leonardo Salviati; Holger Prokisch; David S Williams; Martin Pollak; Catherine F Clarke; York Pei; Corinne Antignac; Friedhelm Hildebrandt
Journal:  J Clin Invest       Date:  2013-11-25       Impact factor: 14.808
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