Characterization of the renal phenotype in RMND1 ‐related mitochondrial disease-Reference-Cited by-同舟云学术

Characterization of the renal phenotype in RMND1 ‐related mitochondrial disease

Published:2019-09-30 Issue:12 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Shayota Brian J.¹²^ORCID,Le Nhon T.³,Bekheirnia Nasim¹³⁴,Rosenfeld Jill A.²,Goldstein Amy C.⁵,Moritz Michael⁶,Bartholomew Dennis W.⁷,Pastore Matthew T.⁷,Xia Fan²⁸,Eng Christine²⁸,Yang Yaping²⁸,Lamb Dolores J.³⁹,Scaglia Fernando¹²¹⁰,Braun Michael C.¹³⁴,Bekheirnia Mir Reza¹²³⁴

Affiliation:

1. Texas Children's Hospital Houston TX USA

2. Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA

3. Baylor College of Medicine Houston TX USA

4. Renal Section Department of Pediatrics Baylor College of Medicine Houston TX USA

5. Department of Pediatrics and Division of Child Neurology University of Pittsburgh School of Medicine Pittsburgh PA USA

6. Department of Pediatrics Division of Nephrology University of Pittsburgh School of Medicine Pittsburgh PA USA

7. Division of Molecular and Human Genetics Nationwide Children's Hospital Columbus OH USA

8. Baylor Genetics Baylor College of Medicine Houston TX USA

9. Department of Urology Weill Cornell Medicine New York NY USA

10. BCM‐CUHK Center of Medical Genetics Prince of Wales Hospital ShaTin Hong Kong SAR

Funder

National Institute of Diabetes and Digestive and Kidney Diseases

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.973

Reference21 articles.

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

2. Mitochondrial dysfunction in the pathophysiology of renal diseases

3. Mitochondria Damage and Kidney Disease

4. Renal manifestations of primary mitochondrial disorders

5. Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation

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