175 related articles for article (PubMed ID: 36717740)
1. Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.
Bonnet M; Roche F; Fagotto-Kaufmann C; Gazdagh G; Truong I; Comunale F; Barbosa S; Bonhomme M; Nafati N; Hunt D; Rodriguez MP; Chaudhry A; Shears D; Madruga M; Vansenne F; Curie A; Kajava AV; Baralle D; Fassier C; Debant A; Schmidt S
Mol Psychiatry; 2023 Apr; 28(4):1527-1544. PubMed ID: 36717740
[TBL] [Abstract][Full Text] [Related]
2. Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Barbosa S; Greville-Heygate S; Bonnet M; Godwin A; Fagotto-Kaufmann C; Kajava AV; Laouteouet D; Mawby R; Wai HA; Dingemans AJM; Hehir-Kwa J; Willems M; Capri Y; Mehta SG; Cox H; Goudie D; Vansenne F; Turnpenny P; Vincent M; Cogné B; Lesca G; Hertecant J; Rodriguez D; Keren B; Burglen L; Gérard M; Putoux A; ; Cantagrel V; Siquier-Pernet K; Rio M; Banka S; Sarkar A; Steeves M; Parker M; Clement E; Moutton S; Tran Mau-Them F; Piton A; de Vries BBA; Guille M; Debant A; Schmidt S; Baralle D
Am J Hum Genet; 2020 Mar; 106(3):338-355. PubMed ID: 32109419
[TBL] [Abstract][Full Text] [Related]
3. Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity.
Katrancha SM; Wu Y; Zhu M; Eipper BA; Koleske AJ; Mains RE
Hum Mol Genet; 2017 Dec; 26(23):4728-4740. PubMed ID: 28973398
[TBL] [Abstract][Full Text] [Related]
4. Autoinhibition of the GEF activity of cytoskeletal regulatory protein Trio is disrupted in neurodevelopmental disorder-related genetic variants.
Bircher JE; Corcoran EE; Lam TT; Trnka MJ; Koleske AJ
J Biol Chem; 2022 Sep; 298(9):102361. PubMed ID: 35963430
[TBL] [Abstract][Full Text] [Related]
5. Mutations specific to the Rac-GEF domain of
Pengelly RJ; Greville-Heygate S; Schmidt S; Seaby EG; Jabalameli MR; Mehta SG; Parker MJ; Goudie D; Fagotto-Kaufmann C; Mercer C; ; Debant A; Ennis S; Baralle D
J Med Genet; 2016 Nov; 53(11):735-742. PubMed ID: 27418539
[TBL] [Abstract][Full Text] [Related]
6. Distinct functions of Trio GEF domains in axon outgrowth of cerebellar granule neurons.
Tao T; Sun J; Peng Y; Wang P; Chen X; Zhao W; Li Y; Wei L; Wang W; Zheng Y; Wang Y; Zhang X; Zhu MS
J Genet Genomics; 2019 Feb; 46(2):87-96. PubMed ID: 30850274
[TBL] [Abstract][Full Text] [Related]
7. More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly.
Kloth K; Graul-Neumann L; Hermann K; Johannsen J; Bierhals T; Kortüm F
Neurogenetics; 2021 Jul; 22(3):221-224. PubMed ID: 34013494
[TBL] [Abstract][Full Text] [Related]
8. Pathogenic
Song JM; Kang M; Park DH; Park S; Lee S; Suh YH
J Neurosci; 2021 Mar; 41(11):2344-2359. PubMed ID: 33500274
[TBL] [Abstract][Full Text] [Related]
9. RhoGEF Trio Regulates Radial Migration of Projection Neurons via Its Distinct Domains.
Wei C; Sun M; Sun X; Meng H; Li Q; Gao K; Yue W; Wang L; Zhang D; Li J
Neurosci Bull; 2022 Mar; 38(3):249-262. PubMed ID: 34914033
[TBL] [Abstract][Full Text] [Related]
10. Trio GEF mediates RhoA activation downstream of Slit2 and coordinates telencephalic wiring.
Backer S; Lokmane L; Landragin C; Deck M; Garel S; Bloch-Gallego E
Development; 2018 Oct; 145(19):. PubMed ID: 30177526
[TBL] [Abstract][Full Text] [Related]
11. Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Gazdagh G; Hunt D; Gonzalez AMC; Rodriguez MP; Chaudhry A; Madruga M; Vansenne F; Shears D; Curie A; Stattin EL; Anderlid BM; Trajkova S; Angelovska ES; McWilliam C; Wyatt PR; O'Driscoll M; Atton G; Bergman AK; Zacher P; Mewasingh LD; López AG; Alonso-Luengo O; Wai HA; Rohde O; Boiroux P; Debant A; Schmidt S; Baralle D
Am J Med Genet A; 2023 Jul; 191(7):1722-1740. PubMed ID: 36987741
[TBL] [Abstract][Full Text] [Related]
12. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Gillentine MA; Wang T; Hoekzema K; Rosenfeld J; Liu P; Guo H; Kim CN; De Vries BBA; Vissers LELM; Nordenskjold M; Kvarnung M; Lindstrand A; Nordgren A; Gecz J; Iascone M; Cereda A; Scatigno A; Maitz S; Zanni G; Bertini E; Zweier C; Schuhmann S; Wiesener A; Pepper M; Panjwani H; Torti E; Abid F; Anselm I; Srivastava S; Atwal P; Bacino CA; Bhat G; Cobian K; Bird LM; Friedman J; Wright MS; Callewaert B; Petit F; Mathieu S; Afenjar A; Christensen CK; White KM; Elpeleg O; Berger I; Espineli EJ; Fagerberg C; Brasch-Andersen C; Hansen LK; Feyma T; Hughes S; Thiffault I; Sullivan B; Yan S; Keller K; Keren B; Mignot C; Kooy F; Meuwissen M; Basinger A; Kukolich M; Philips M; Ortega L; Drummond-Borg M; Lauridsen M; Sorensen K; Lehman A; ; Lopez-Rangel E; Levy P; Lessel D; Lotze T; Madan-Khetarpal S; Sebastian J; Vento J; Vats D; Benman LM; Mckee S; Mirzaa GM; Muss C; Pappas J; Peeters H; Romano C; Elia M; Galesi O; Simon MEH; van Gassen KLI; Simpson K; Stratton R; Syed S; Thevenon J; Palafoll IV; Vitobello A; Bournez M; Faivre L; Xia K; ; Earl RK; Nowakowski T; Bernier RA; Eichler EE
Genome Med; 2021 Apr; 13(1):63. PubMed ID: 33874999
[TBL] [Abstract][Full Text] [Related]
13. Modeling human mutations to understand TRIO GEF function during development.
Fingleton E; Roche KW
Trends Neurosci; 2023 Jun; 46(6):411-412. PubMed ID: 36959051
[TBL] [Abstract][Full Text] [Related]
14. De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Mattioli F; Hayot G; Drouot N; Isidor B; Courraud J; Hinckelmann MV; Mau-Them FT; Sellier C; Goldman A; Telegrafi A; Boughton A; Gamble C; Moutton S; Quartier A; Jean N; Van Ness P; Grotto S; Nambot S; Douglas G; Si YC; Chelly J; Shad Z; Kaplan E; Dineen R; Golzio C; Charlet-Berguerand N; Mandel JL; Piton A
Am J Hum Genet; 2020 Apr; 106(4):438-452. PubMed ID: 32197073
[TBL] [Abstract][Full Text] [Related]
15. De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T; Jech R; Brugger M; Kovacs R; Alhaddad B; Leszinski G; Riedhammer KM; Westphal DS; Mahle I; Mayerhanser K; Skorvanek M; Weber S; Graf E; Berutti R; Necpál J; Havránková P; Pavelekova P; Hempel M; Kotzaeridou U; Hoffmann GF; Leiz S; Makowski C; Roser T; Schroeder SA; Steinfeld R; Strobl-Wildemann G; Hoefele J; Borggraefe I; Distelmaier F; Strom TM; Winkelmann J; Meitinger T; Zech M; Wagner M
Clin Genet; 2021 Jul; 100(1):14-28. PubMed ID: 33619735
[TBL] [Abstract][Full Text] [Related]
16. Hsc70 chaperone activity underlies Trio GEF function in axon growth and guidance induced by netrin-1.
DeGeer J; Kaplan A; Mattar P; Morabito M; Stochaj U; Kennedy TE; Debant A; Cayouette M; Fournier AE; Lamarche-Vane N
J Cell Biol; 2015 Aug; 210(5):817-32. PubMed ID: 26323693
[TBL] [Abstract][Full Text] [Related]
17. Trio mediates netrin-1-induced Rac1 activation in axon outgrowth and guidance.
Briançon-Marjollet A; Ghogha A; Nawabi H; Triki I; Auziol C; Fromont S; Piché C; Enslen H; Chebli K; Cloutier JF; Castellani V; Debant A; Lamarche-Vane N
Mol Cell Biol; 2008 Apr; 28(7):2314-23. PubMed ID: 18212043
[TBL] [Abstract][Full Text] [Related]
18. Case report: Phenotype expansion and analysis of
Liu Y; Liang Z; Cai W; Shao Q; Pan Q
Front Neurol; 2022; 13():948877. PubMed ID: 36105777
[TBL] [Abstract][Full Text] [Related]
19. The RhoGEF trio functions in sculpting class specific dendrite morphogenesis in Drosophila sensory neurons.
Iyer SC; Wang D; Iyer EP; Trunnell SA; Meduri R; Shinwari R; Sulkowski MJ; Cox DN
PLoS One; 2012; 7(3):e33634. PubMed ID: 22442703
[TBL] [Abstract][Full Text] [Related]
20. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
Millan F; Cho MT; Retterer K; Monaghan KG; Bai R; Vitazka P; Everman DB; Smith B; Angle B; Roberts V; Immken L; Nagakura H; DiFazio M; Sherr E; Haverfield E; Friedman B; Telegrafi A; Juusola J; Chung WK; Bale S
Am J Med Genet A; 2016 Jul; 170(7):1791-8. PubMed ID: 27133397
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
