Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome-Reference-Cited by-同舟云学术

Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome

Published:2019-08-23 Issue:1 Volume:70 Page:21-25
ISSN:0895-8696
Container-title:Journal of Molecular Neuroscience
language:en
Short-container-title:J Mol Neurosci

Author:

Alipour Nasrin,Salehpour Shadab,Tonekaboni Seyed Hasan,Rostami Masoumeh,Bahari Soraya,Yassaee Vahidreza,Miryounesi Mohammad,Ghafouri-Fard Soudeh^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12031-019-01394-w.pdf

Reference9 articles.

1. Carey JC, Hall BD (1978 Aug) Confirmation of the Cohen syndrome. J Pediatr 93(2):239–244

2. Chandler KE, Kidd A, Al-Gazali L, Kolehmainen J, Lehesjoki AE, Black GC et al (2003) Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. J Med Genet 40(4):233–241

3. Cohen MM Jr, Hall BD, Smith DW, Graham CB, Lampert KJ (1973) A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. J Pediatr 83(2):280–284

4. Duplomb L, Duvet S, Picot D, Jego G, El Chehadeh-Djebbar S, Marle N et al (2014) Cohen syndrome is associated with major glycosylation defects. Hum Mol Genet 23(9):2391–2399

5. Kolehmainen J, Black GC, Saarinen A, Chandler K, Clayton-Smith J, Traskelin AL et al (2003) Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet 72(6):1359–1369

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1. Exploring the pathological mechanisms underlying Cohen syndrome;Frontiers in Neuroscience;2024-07-01

2. Cohen syndrome due to a novel stop-gain mutation in VPS13B gene: A case report and comparative study in affected siblings worldwide;2024-02-21

3. Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients;Cells;2023-11-25

4. Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected;Neurobiology of Disease;2023-09

5. Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome;The Journal of Pediatrics;2023-01