Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy-Reference-Cited by-全球学者库

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Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy

Published:2020-01-15 Issue:6 Volume:70 Page:908-915
ISSN:0895-8696
Container-title:Journal of Molecular Neuroscience
language:en
Short-container-title:J Mol Neurosci

Author:

Yao Ruen^ORCID,Zhang Yi^ORCID,Liu Jie,Wang Jiwen,Xu Yufei,Li Niu,Wang Jian^ORCID,Yu Tingting^ORCID

Funder

National Natural Science Foundation of China

Shanghai Municipal Science and Technology Commission

Shanghai Education Development Foundation and Shanghai Municipal Education Commission

Shanghai Municipal Education Commission-Gaofeng Clinical Medicine

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12031-019-01465-y.pdf

Reference21 articles.

1. Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Gradek G, Wiesener A, Korenke C, Mercier S, Becker F, Yamamoto T, Scherer SW, Marshall CR, Walker S, Dutta UR, Dalal AB, Suckow V, Jamali P, Kahrizi K, Najmabadi H, Minassian BA (2017) ARHGEF9 disease: phenotype clarification and genotype-phenotype correlation. Neurol Genet 3:e148. https://doi.org/10.1212/NXG.0000000000000148

2. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout A, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE (2012) Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367:1921–1929. https://doi.org/10.1056/NEJMoa1206524

3. Grosskreutz Y, Hermann A, Kins S, Fuhrmann JC, Betz H, Kneussel M (2001) Identification of a gephyrin-binding motif in the GDP/GTP exchange factor collybistin. Biol Chem 382:1455–1462. https://doi.org/10.1515/BC.2001.179

4. Harvey K, Duguid IC, Alldred MJ, Beatty SE, Ward H, Keep NH, Lingenfelter SE, Pearce BR, Lundgren J, Owen MJ, Smart TG, Lüscher B, Rees MI, Harvey RJ (2004) The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. J Neurosci 24:5816–5826. https://doi.org/10.1523/JNEUROSCI.1184-04.2004

5. Hu X, Li N, Xu Y, Li G, Yu T, Yao RE, Fu L, Wang J, Yin L, Yin Y, Wang Y, Jin X, Wang X, Wang J, Shen Y (2018) Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience. Genet Med 20:1045–1053. https://doi.org/10.1038/gim.2017.195

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1. A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome;Scientific Reports;2023-08-10

2. A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome;2023-03-27

3. Triptolide injection reduces Alzheimer's disease‐like pathology in mice;Synapse;2023-02-07

4. ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration;Molecular Genetics & Genomic Medicine;2022-05-31

5. Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor α2 subunit;Molecular Psychiatry;2022-02-15

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