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Journal Abstract Search

192 related items for PubMed ID: 39431217

  • 1. Conformational analysis of the IQSEC2 protein by statistical thermodynamics.
    Shokhen M, Albeck A, Borisov V, Israel Y, Levy NS, Levy AP.
    Curr Res Struct Biol; 2024; 8():100158. PubMed ID: 39431217
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  • 3. An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors.
    Rogers EJ, Jada R, Schragenheim-Rozales K, Sah M, Cortes M, Florence M, Levy NS, Moss R, Walikonis RS, Palty R, Shalgi R, Lichtman D, Kavushansky A, Gerges NZ, Kahn I, Umanah GKE, Levy AP.
    Front Mol Neurosci; 2019; 12():43. PubMed ID: 30842726
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  • 7. Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females.
    Jackson MR, Loring KE, Homan CC, Thai MH, Määttänen L, Arvio M, Jarvela I, Shaw M, Gardner A, Gecz J, Shoubridge C.
    Life Sci Alliance; 2019 Aug; 2(4):. PubMed ID: 31439632
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  • 9. Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.
    Shoubridge C, Walikonis RS, Gécz J, Harvey RJ.
    Small GTPases; 2010 Sep; 1(2):98-103. PubMed ID: 21686261
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  • 10. IQSEC2 mutation associated with epilepsy, intellectual disability, and autism results in hyperexcitability of patient-derived neurons and deficient synaptic transmission.
    Brant B, Stern T, Shekhidem HA, Mizrahi L, Rosh I, Stern Y, Ofer P, Asleh A, Umanah GKE, Jada R, Levy NS, Levy AP, Stern S.
    Mol Psychiatry; 2021 Dec; 26(12):7498-7508. PubMed ID: 34535765
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  • 13. Daily Brief Heat Therapy Reduces Seizures in A350V IQSEC2 Mice and Is Associated with Correction of AMPA Receptor-Mediated Synaptic Dysfunction.
    Jada R, Borisov V, Laury E, Halpert S, Levy NS, Wagner S, Netser S, Walikonis R, Carmi I, Berlin S, Levy AP.
    Int J Mol Sci; 2023 Feb 15; 24(4):. PubMed ID: 36835332
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  • 14. Preliminary Study on Clinical Characteristics and Pathogenesis of IQSEC2 Mutations Patients.
    Ren Y, Luo X, Tong H, Wang S, Yan J, Lin L, Chen Y.
    Pharmgenomics Pers Med; 2024 Feb 15; 17():289-318. PubMed ID: 38827181
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  • 15. Altered excitatory transmission onto hippocampal interneurons in the IQSEC2 mouse model of X-linked neurodevelopmental disease.
    Sah M, Shore AN, Petri S, Kanber A, Yang M, Weston MC, Frankel WN.
    Neurobiol Dis; 2020 Apr 15; 137():104758. PubMed ID: 31978606
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  • 16. A case of intellectual disability reveals a novel mutation in IQSEC2 gene by whole exome sequencing.
    Zou Q, Zheng J, Zhang R, Fang Y, Cai C.
    Psychiatr Genet; 2019 Dec 15; 29(6):243-247. PubMed ID: 31490346
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  • 17. Characterization of spontaneous seizures and EEG abnormalities in a mouse model of the human A350V IQSEC2 mutation and identification of a possible target for precision medicine based therapy.
    Kane O, McCoy A, Jada R, Borisov V, Zag L, Zag A, Schragenheim-Rozales K, Shalgi R, Levy NS, Levy AP, Marsh ED.
    Epilepsy Res; 2022 May 15; 182():106907. PubMed ID: 35344748
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