Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease-Reference-Cited by-同舟云学术

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Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease

Published:2017-04-10 Issue:4 Volume:32 Page:1123-1131
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Cao Binbin,Yang Xiaoping,Chen Yinyin,Huang Qionghui,Wu Ye,Gu Qiang,Xiao Jiangxi,Yang Huixia,Pan Hong,Chen Junya,Sun Yu,Ren Li,Zhao Chengfeng,Deng Yanhua,Yang Yanling,Chang Xingzhi,Yang Zhixian,Zhang Yuehua,Niu Zhengping,Wang Juli,Wu Xiru,Wang Jingmin,Jiang Yuwu

Funder

The National Key Research and Development Program of China

The National Key Research Project“12-5”

Beijing key laboratory of molecular diagnosis and study on pediatric genetic diseases

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry

Link

http://link.springer.com/article/10.1007/s11011-017-9985-4/fulltext.html

Reference33 articles.

1. Bahi-Buisson N, Kaminska A, Nabbout R et al (2006) Epilepsy in Menkes disease: analysis of clinical stages [J]. Epilepsia 47(2):380–386

2. Bindu PS, Sinha S, Taly AB et al (2007) Menkes syndrome presenting as myoclonic seizures: neuroimaging and EEG observations [J]. J Child Neurol 22(4):452–455

3. Bryndorf T, Christensen B, Xiang Y et al (1994) Prenatal diagnosis by fluorescence in situ hybridization on chorionic villus cells: nonsignificance of maternal cell contamination [J]. Fetal Diagn Ther 9(2):73–76

4. Caminsky N, Mucaki E J, Rogan P K. 2014 Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis [J]. F1000Res 3: 282.

5. Chelly J, Tumer Z, Tonnesen T et al (1993) Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein[J]. Nat Genet 3(1):14–19

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1. Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease;Neurological Sciences;2024-07-06

2. Copper oxide nanoparticles: In vitro and in vivo toxicity, mechanisms of action and factors influencing their toxicology;Comparative Biochemistry and Physiology Part C: Toxicology & Pharmacology;2023-09

3. Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease;Frontiers in Genetics;2022-03-31

4. Menkes disease diagnosed by a novel ATP7A frameshift mutation in a patient with infantile spasms—a case report;Translational Pediatrics;2021-07

5. Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease;Genes;2021-05-14

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