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Ang II Promotes SUMO2/3 Modification of RhoGDI1 Through Aos1 and Uba2 Subunits, and then Regulates RhoGDI1 Stability and Cell Proliferation.
Qi Y, Guan H, Liang X, Sun J, Yao W. Qi Y, et al. Cardiovasc Drugs Ther. 2021 Aug;35(4):769-773. doi: 10.1007/s10557-021-07173-3. Epub 2021 Apr 23. Cardiovasc Drugs Ther. 2021. PMID: 33891248
In this study, we focused on revealing the effects of E1 subunits (Aos1 and Uba2) on RhoGDI1 SUMOylation in HA-VSMC proliferation. METHODS: The expressions of Aos1, Uba2, and SUMO1 were suppressed by siRNA transfection. ...In addition, Uba2 or Aos1 suppressio …
In this study, we focused on revealing the effects of E1 subunits (Aos1 and Uba2) on RhoGDI1 SUMOylation in HA-VSMC proliferation. ME …
The Cdc42/Rac1 regulator CdGAP is a novel E-cadherin transcriptional co-repressor with Zeb2 in breast cancer.
He Y, Northey JJ, Pelletier A, Kos Z, Meunier L, Haibe-Kains B, Mes-Masson AM, Côté JF, Siegel PM, Lamarche-Vane N. He Y, et al. Oncogene. 2017 Jun 15;36(24):3490-3503. doi: 10.1038/onc.2016.492. Epub 2017 Jan 30. Oncogene. 2017. PMID: 28135249 Free PMC article.
Here, by using global gene expression approaches, we uncover a novel function for Cdc42 GTPase-activating protein (CdGAP) in the regulation of expression of genes involved in EMT. ...Targeting Zeb2-CdGAP interactions may represent novel t …
Here, by using global gene expression approaches, we uncover a novel function for Cdc42 GTPase-activating protein …
The ubiquitin-like modifier FAT10 interferes with SUMO activation.
Aichem A, Sailer C, Ryu S, Catone N, Stankovic-Valentin N, Schmidtke G, Melchior F, Stengel F, Groettrup M. Aichem A, et al. Nat Commun. 2019 Oct 1;10(1):4452. doi: 10.1038/s41467-019-12430-z. Nat Commun. 2019. PMID: 31575873 Free PMC article.
Mechanistically, we show that FAT10 directly binds to and impedes the activity of the heterodimeric SUMO E1 activating enzyme AOS1/UBA2 by competing very efficiently with SUMO for activation and thioester formation. Nevertheless, activation of FAT10 by AOS1/UBA2 doe …
Mechanistically, we show that FAT10 directly binds to and impedes the activity of the heterodimeric SUMO E1 activating enzyme AOS1/UB …
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.
Hassed S, Li S, Mulvihill J, Aston C, Palmer S. Hassed S, et al. Am J Med Genet A. 2017 Mar;173(3):790-800. doi: 10.1002/ajmg.a.37889. Epub 2017 Feb 4. Am J Med Genet A. 2017. PMID: 28160419 Review.
Six causative genes have been identified: ARHGAP31, DOCK6, EOGT, RBPJ, NOTCH1, and DLL4. We review 385 previously described individuals (139 non-familial and 246 familial probands and family members) and add clinical data on 13 previously unreported individuals with AOS. . …
Six causative genes have been identified: ARHGAP31, DOCK6, EOGT, RBPJ, NOTCH1, and DLL4. We review 385 previously described individua …
Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum.
Santaniello C, Faversani A, Corsaro L, Melloni G, Motta S, Mandorino E, Sacco D, Stioui S, Ferrara F, Barteselli D, De Vita D, Manuelli D, Costantino L. Santaniello C, et al. Genes (Basel). 2024 Apr 24;15(5):536. doi: 10.3390/genes15050536. Genes (Basel). 2024. PMID: 38790165 Free PMC article.
It is caused by variants in different genes such as ARHGAP31. Here, we used an interdisciplinary approach to study a family with lower limb anomalies. ...Pathogenic variants in ARHGAP31 exon 12, leading to a premature protein termination, are associated with Adams-O …
It is caused by variants in different genes such as ARHGAP31. Here, we used an interdisciplinary approach to study a family with lowe …
Aplasia cutis congenita in a CDC42-related developmental phenotype.
Schnabel F, Kamphausen SB, Funke R, Kaulfuß S, Wollnik B, Zenker M. Schnabel F, et al. Am J Med Genet A. 2021 Mar;185(3):850-855. doi: 10.1002/ajmg.a.62009. Epub 2020 Dec 7. Am J Med Genet A. 2021. PMID: 33283961
Dysregulation of CDC42 signaling by genetic defects in either DOCK6 or ARHGAP31 is also considered to play a role in the pathogenesis of Adams-Oliver syndrome (AOS). ...
Dysregulation of CDC42 signaling by genetic defects in either DOCK6 or ARHGAP31 is also considered to play a role in the pathogenesis …
Comprehensive Analysis of N6-Methylandenosine-Related lncRNAs in Clear Cell Renal Cell Carcinoma: A Correlation With Prognosis, Tumor Progression, and Therapeutic Response.
Meng C, Li J, Wang X, Ying Y, Li Z, Wang A, Li X. Meng C, et al. Cancer Invest. 2024 Apr;42(4):278-296. doi: 10.1080/07357907.2024.2330103. Epub 2024 Apr 21. Cancer Invest. 2024. PMID: 38644691
Our approach led to the development of an m6A-related lncRNA risk score (MRLrisk), formulated using six identified lncRNAs: NFE4, AL008729.2, AL139123.1, LINC02154, AC124854.1 and ARHGAP31-AS1. Higher MRLrisk was identified as a risk factor for patients' prognosis in ccRCC …
Our approach led to the development of an m6A-related lncRNA risk score (MRLrisk), formulated using six identified lncRNAs: NFE4, AL008729.2 …
PTEN controls glandular morphogenesis through a juxtamembrane β-Arrestin1/ARHGAP21 scaffolding complex.
Javadi A, Deevi RK, Evergren E, Blondel-Tepaz E, Baillie GS, Scott MG, Campbell FC. Javadi A, et al. Elife. 2017 Jul 27;6:e24578. doi: 10.7554/eLife.24578. Elife. 2017. PMID: 28749339 Free PMC article.
Because beta-Arrestin1 binds and suppresses the Cdc42 GTPase-activating protein ARHGAP21, we hypothesize that PTEN controls Cdc42 -dependent morphogenic processes through a beta-Arrestin1-ARHGAP21 complex. ...
Because beta-Arrestin1 binds and suppresses the Cdc42 GTPase-activating protein ARHGAP21, we hypothesize that PT …
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W. Meester JAN, et al. Hum Mutat. 2018 Sep;39(9):1246-1261. doi: 10.1002/humu.23567. Epub 2018 Jul 4. Hum Mutat. 2018. PMID: 29924900 Free PMC article.
Autosomal dominant forms of AOS are linked to mutations in ARHGAP31, DLL4, NOTCH1 or RBPJ, while DOCK6 and EOGT underlie autosomal recessive inheritance. ...NOTCH1 is the major contributor, underlying 10% of AOS/ACC/TTLD cases, with DLL4 (6%), DOCK6 (6%), ARHGAP31 ( …
Autosomal dominant forms of AOS are linked to mutations in ARHGAP31, DLL4, NOTCH1 or RBPJ, while DOCK6 and EOGT underlie autosomal re …
A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2.
Alzahem T, Alsalamah AK, Mura M, Alsulaiman SM. Alzahem T, et al. Ophthalmic Genet. 2020 Aug;41(4):377-380. doi: 10.1080/13816810.2020.1776339. Epub 2020 Jun 5. Ophthalmic Genet. 2020. PMID: 32498638
AOS can be inherited as both autosomal-dominant and recessive traits. Pathogenic variants in the DOCK6, ARHGAP31, EOGT, RBPJ, DLL4, and NOTCH1 genes have been associated with AOS. PURPOSE: To report a novel homozygous variant in the DOCK6 gene associated with Adams-Oliver …
AOS can be inherited as both autosomal-dominant and recessive traits. Pathogenic variants in the DOCK6, ARHGAP31, EOGT, RBPJ, DLL4, a …
17 results