Report of a case with ferredoxin reductase ( FDXR ) gene variants in a Chinese boy exhibiting hearing loss, visual impairment, and motor retardation-Reference-Cited by-同舟云学术

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Report of a case with ferredoxin reductase ( FDXR ) gene variants in a Chinese boy exhibiting hearing loss, visual impairment, and motor retardation

Published:2021-03-26 Issue:4 Volume:81 Page:364-369
ISSN:0736-5748
Container-title:International Journal of Developmental Neuroscience
language:en
Short-container-title:Int. j. dev. neurosci.

Author:

Yang Chengqing¹,Zhang Ying¹^ORCID,Li Jiuwei²,Song Zhenfeng¹^ORCID,Yi Zhi¹,Li Fei¹,Xue Jiao¹,Zhang Wei³⁴,Wang Chunli⁴

Affiliation:

1. Department of Pediatric the Affiliated Hospital of Qingdao University Shandong China

2. Department of Neurology Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s Health Beijing China

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

4. AmCare Genomics Lab GuangZhou China

Publisher

Wiley

Subject

Developmental Biology,Developmental Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jdn.10104

Reference14 articles.

1. Mammalian Fe–S cluster biogenesis and its implication in disease

2. Human Mitochondrial Ferredoxin 1 (FDX1) and Ferredoxin 2 (FDX2) Both Bind Cysteine Desulfurase and Donate Electrons for Iron–Sulfur Cluster Biosynthesis

3. Adrenodoxin: The archetype of vertebrate-type [2Fe–2S] cluster ferredoxins

4. Mitochondrial cytochrome P‐450scc. Mechanism of electron transport by adrenodoxin;Hanukoglu I.;Journal of Biological Chemistry,1980

5. Purification and Biophysical Characterization of a New [2Fe-2S] Ferredoxin from Azotobacter vinelandii, a Putative [Fe-S] Cluster Assembly/Repair Protein

Cited by 7 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. Novel Variant of FDXR as a Molecular Etiology of Postlingual Post-synaptic Auditory Neuropathy Spectrum Disorder via Mitochondrial Dysfunction: Reiteration of the Correlation between Genotype and Cochlear Implantation Outcomes;Clinical and Experimental Otorhinolaryngology;2024-08-31

2. FDXR variants cause adrenal insufficiency and atypical sexual development;JCI Insight;2024-06-17

3. Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population;Genetics in Medicine Open;2024

4. FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum;Experimental Eye Research;2023-09

5. FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population;Genes;2023-04-21

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