A novel homozygous variant in C1QBP causes severe IUGR , edema, and cardiomyopathy in two fetuses-Reference-Cited by-同舟云学术

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A novel homozygous variant in C1QBP causes severe IUGR , edema, and cardiomyopathy in two fetuses

Published:2021-03-05 Issue:1 Volume:59 Page:20-25
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Alstrup Morten¹^ORCID,Vogel Ida²³^ORCID,Sandager Puk²⁴^ORCID,Blechingberg Jenny³^ORCID,Becher Naja²³^ORCID,Østergaard Elsebet¹^ORCID

Affiliation:

1. Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark

2. Center for Fetal Diagnostics, Department of Clinical Medicine Aarhus University Hospital Aarhus Denmark

3. Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark

4. Department of Obstetrics and Gynecology Aarhus University Hospital Aarhus Denmark

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12209

Reference16 articles.

1. The process of mammalian mitochondrial protein synthesis

2. The genetics and pathology of mitochondrial disease

3. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

4. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

5. YagiM UchiumiT TakazakiS et al.p32/gC1qR is indispensable for fetal development and mitochondrial translation: importance of its RNA‐binding ability.2012;40(19):9717‐9737.

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Endogenous complement 1q binding protein (C1qbp) regulates mitochondrial permeability transition and post-myocardial infarction remodeling and dysfunction;Journal of Molecular and Cellular Cardiology;2024-11

2. Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations;Frontiers in Pediatrics;2022-05-06

3. End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic C1QBP Variants;Circulation: Genomic and Precision Medicine;2022-04

4. Complement C1q Binding Protein (C1QBP): Physiological Functions, Mutation-Associated Mitochondrial Cardiomyopathy and Current Disease Models;Frontiers in Cardiovascular Medicine;2022-03-02

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