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101 results

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Page 1
Peptide ARHGEF9 Inhibits Glioma Progression via PI3K/AKT/mTOR Pathway.
Huang J, Fu X, Xue Q, Ma P, Yin Y, Jiang M, Lu Y, Ying Q, Jiang J, He H, Wu D. Huang J, et al. Dis Markers. 2023 Feb 18;2023:7146589. doi: 10.1155/2023/7146589. eCollection 2023. Dis Markers. 2023. Retraction in: Dis Markers. 2023 Aug 9;2023:9849123. doi: 10.1155/2023/9849123. PMID: 36852158 Free PMC article. Retracted.
After that, 6 independent prognostic factors (REPIN1, PSD3, RDX, CDK4, FANCI, and ARHGEF9) were obtained and applied to construct the prognostic nomogram, and ARHGEF9 was the target gene in the study. Next, peptide ARHGEF9 was found to inhibit glioma cell dev …
After that, 6 independent prognostic factors (REPIN1, PSD3, RDX, CDK4, FANCI, and ARHGEF9) were obtained and applied to construct the …
ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.
Yang H, Liao H, Gan S, Xiao T, Wu L. Yang H, et al. Mol Genet Genomic Med. 2022 Jul;10(7):e1967. doi: 10.1002/mgg3.1967. Epub 2022 May 31. Mol Genet Genomic Med. 2022. PMID: 35638461 Free PMC article.
The exome sequencing that was performed on peripheral blood samples was applied for genetic analysis. We used the ARHGEF9 gene as a key word to search the PubMed database for cases of ARHGEF9 gene variants that have previously been reported and summarized the report …
The exome sequencing that was performed on peripheral blood samples was applied for genetic analysis. We used the ARHGEF9 gene as a k …
[Patients with ARHGEF9-mutation: a case report and implications of genetic disorders in child psychiatry].
van Roey W, Vogels A, Emmery P. van Roey W, et al. Tijdschr Psychiatr. 2019;61(12):891-896. Tijdschr Psychiatr. 2019. PMID: 31907904 Free article. Review. Dutch.
We describe two patients, who were assessed at a child psychiatry clinic, with a known genetic disorder in the ARHGEF9 gene on the long arm of the X chromosome. The boys presented with developmental delay, hyperactivity, autism spectrum disorder and epilepsy. ...
We describe two patients, who were assessed at a child psychiatry clinic, with a known genetic disorder in the ARHGEF9 gene on the lo …
X-Linked Epilepsies: A Narrative Review.
Bernardo P, Cuccurullo C, Rubino M, De Vita G, Terrone G, Bilo L, Coppola A. Bernardo P, et al. Int J Mol Sci. 2024 Apr 8;25(7):4110. doi: 10.3390/ijms25074110. Int J Mol Sci. 2024. PMID: 38612920 Free PMC article. Review.
In this review, we comprehensively describe the main features of both X-linked epileptic syndromes thoroughly characterized to date (PCDH19-related DEE, CDKL5-related DEE, MECP2-related disorders), forms of epilepsy related to X-linked neuronal migration disorders (e.g., ARX, DCX …
In this review, we comprehensively describe the main features of both X-linked epileptic syndromes thoroughly characterized to date (PCDH19- …
ARHGEF9 regulates melanoma morphogenesis in environments with diverse geometry and elasticity by promoting filopodial-driven adhesion.
Bousgouni V, Inge O, Robertson D, Jones I, Clatworthy I, Bakal C. Bousgouni V, et al. iScience. 2022 Aug 8;25(8):104795. doi: 10.1016/j.isci.2022.104795. eCollection 2022 Aug 19. iScience. 2022. PMID: 36039362 Free PMC article.
ARHGEF9 is required for melanoma cells to invade 3D matrices. Depletion of ARHGEF9 results in loss of tension at focal adhesions decreased cell-wide contractility, and the inability to stabilize protrusions. Taken together we show that ARHGEF9 promotes the fo …
ARHGEF9 is required for melanoma cells to invade 3D matrices. Depletion of ARHGEF9 results in loss of tension at focal adhesio …
Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA(A) receptor alpha2 subunit.
Hines DJ, Contreras A, Garcia B, Barker JS, Boren AJ, Moufawad El Achkar C, Moss SJ, Hines RM. Hines DJ, et al. Mol Psychiatry. 2022 Mar;27(3):1729-1741. doi: 10.1038/s41380-022-01468-z. Epub 2022 Feb 15. Mol Psychiatry. 2022. PMID: 35169261 Free PMC article.
Mutations in a growing number of single genes have been identified as causative in ID, including ARHGEF9. Evaluation of 41 ARHGEF9 patient reports shows ubiquitous inclusion of ID, along with other frequently reported symptoms of epilepsy, abnormal baseline EEG acti …
Mutations in a growing number of single genes have been identified as causative in ID, including ARHGEF9. Evaluation of 41 ARHGEF9 …
ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.
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. Alber M, et al. Neurol Genet. 2017 May 26;3(3):e148. doi: 10.1212/NXG.0000000000000148. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28589176 Free PMC article.
OBJECTIVE: We aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations. METHODS: Patients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the literature. ... …
OBJECTIVE: We aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations. METHODS: Patie …
ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.
Wang JY, Zhou P, Wang J, Tang B, Su T, Liu XR, Li BM, Meng H, Shi YW, Yi YH, He N, Liao WP. Wang JY, et al. Neurogenetics. 2018 Jan;19(1):9-16. doi: 10.1007/s10048-017-0528-2. Epub 2017 Nov 13. Neurogenetics. 2018. PMID: 29130122
ARHGEF9 resides on Xq11.1 and encodes collybistin, which is crucial in gephyrin clustering and GABA(A) receptor localization. ARHGEF9 mutations have been identified in patients with heterogeneous phenotypes, including epilepsy of variable severity and intellectual d …
ARHGEF9 resides on Xq11.1 and encodes collybistin, which is crucial in gephyrin clustering and GABA(A) receptor localization. ARHG …
101 results