Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders-Reference-Cited by-同舟云学术

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders

Published:2014-08-13 Issue:1 Volume:7 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Gimelli Stefania,Capra Valeria,Di Rocco Maja,Leoni Massimiliano,Mirabelli-Badenier Marisol,Schiaffino Maria Cristina,Fiorio Patrizia,Cuoco Cristina,Gimelli Giorgio,Tassano Elisa

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1186/s13039-014-0054-y.pdf

Reference19 articles.

1. Nunnari J, Fox TD, Walter P: A mitochondrial protease with two catalytic subunits of nonoverlapping specificities. Science 1993, 262: 1997–2004. 10.1126/science.8266095

2. Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F, Reichert J, Cai G, Buxbaum JD, Korvatska O, Schellenberg GD, Dawson G, de Bildt A, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ, Monaco AP: IMGSAC: High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. Mol Psychiatry 2010, 15: 954–968. 10.1038/mp.2009.34

3. Elia J, Gai X, Xie HM, Perin JC, Geiger E, Glessner JT, D'arcy M, De Berardinis R, Frackelton E, Kim C, Lantieri F, Muganga BM, Wang L, Takeda T, Rappaport EF, Grant SF, Berrettini W, Devoto M, Shaikh TH, Hakonarson H, White PS: Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry 2010, 15: 1122. 10.1038/mp.2010.75

4. Petek E, Windpassinger C, Vincent JB, Cheung J, Boright AP, Scherer SW, Kroisel PM: Wagner K:Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. Am J Hum Genet 2001, 68: 848–858. 10.1086/319523

5. Petek E, Schwarzbraun T, Noor A, Patel M, Nakabayashi K, Choufani S, Windpassinger C, Stamenkovic M, Robertson MM, Aschauer HN, Gurling HM, Kroisel PM, Wagner K, Scherer SW, Vincent JB: Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome. Mol Genet Genomics 2007, 277: 71–81. 10.1007/s00438-006-0173-1

Cited by 30 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. Mitochondrial proteases modulate mitochondrial stress signalling and cellular homeostasis in health and disease;Biochimie;2024-06

2. Antioxidant Behavioural Phenotype in the Immp2l Gene Knock-Out Mouse;Genes;2023-08-28

3. Immp2l Mutation Induces Mitochondrial Membrane Depolarization and Complex III Activity Suppression after Middle Cerebral Artery Occlusion in Mice;Current Medical Science;2023-05-27

4. Maternal Copy Number Imbalances in Non-Invasive Prenatal Testing: Do They Matter?;Diagnostics;2022-12-06

5. Replication stress impairs chromosome segregation and preimplantation development in human embryos;Cell;2022-08