| 1 | CMRH, CMRH2, RAB18, RAB3GAP1, RAB3GAP2, TBC1D20, WARBM1, WARBM3
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| Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.
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| Abdel-Hamid MS, Abdel-Ghafar SF, Ismail SR, Desouky LM, Issa MY, Effat LK, Zaki MS.
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| Clin Genet Nov;98(5):445-456. doi: 10.1111/cge.13825. 2020
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| 2 | FOXC2, RAB3GAP1, RAB3GAP2, SNAP25
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| FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25
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| Rasnitsyn A, Doucette L, Seifi M, Footz T, Raymond V, Walter MA.
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| PLoS One. Jun 2;12(6):e0178518. doi: 10.1371/journal.pone.0178518. 2017
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| 3 | RAB3GAP1, VAPB
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| VAP-B binds to Rab3GAP1 at the ER: its implication in nuclear envelope formation through the ER-Golgi intermediate compartment.
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| Hantan D, Yamamoto Y, Sakisaka T.
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| Kobe J Med Sci 60(3):E48-56.
2014
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| 4 | CMRH, RAB18, RAB3GAP1, RAB3GAP2, WARBM1, WARBM3
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| Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome
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| Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, García-Cazorla A, Edery P, Jackson IJ, Maher ER, Aligianis IA.
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| Hum Mutat. May;34(5):686-96. doi: 10.1002/humu.22296 2013
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| 5 | CMRH, RAB18, RAB3GAP1, RAB3GAP2, WARBM1, WARBM3
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| Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome.
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| Bem D, Yoshimura S, Nunes-Bastos R, Bond FF, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Müller F, Maher ER, Barr FA, Aligianis IA.
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| Am J Hum Genet 88(4):499-507. 2011
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| 6 | RAB3GAP1, WARBM1
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| New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
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| Morris-Rosendahl DJ, Segel R, Born AP, Conrad C, Loeys B, Brooks SS, Müller L, Zeschnigk C, Botti C, Rabinowitz R, Uyanik G, Crocq MA, Kraus U, Degen I, Faes F.
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| Eur J Hum Genet 18(10):1100-6. Epub 2010 May 26.
2010
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| 7 | DEL1P36, DEL21QT, DEL4Q, DEL6QD, DUP2PD, EOMES, GOSHS, KIFBP, MPAC, RAB3GAP1, WARBM1
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| Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
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| Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG.
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| Am J Med Genet A 146A(13):1637-54. 2008
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| 8 | RAB3GAP1, RAB3A, WARBM1
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| Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3.
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| Sakane A, Manabe S, Ishizaki H, Tanaka-Okamoto M, Kiyokage E, Toida K, Yoshida T, Miyoshi J, Kamiya H, Takai Y, Sasaki T.
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| Proc Natl Acad Sci U S A 103(26):10029-34. Epub 2006 Jun 16. 2006
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| 9 | CMRH, RAB3GAP1, RAB3GAP2, WARBM1, WARBM3
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| Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.
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| Aligianis IA, Morgan NV, Mione M, Johnson CA, Rosser E, Hennekam RC, Adams G, Trembath RC, Pilz DT, Stoodley N, Moore AT, Wilson S, Maher ER.
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| Am J Hum Genet 78(4):702-7. Epub 2006 Feb 14. 2006
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| 10 | RAB3GAP1, WARBM1, ZRANB3
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| Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
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| Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Megarbane A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER.
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| Nat Genet 37(3):221-3. 2005
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| 11 | DMXL2, RAB3GAP1, WDR7
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| A novel rabconnectin-3-binding protein that directly binds a GDP/GTP exchange protein for Rab3A small G protein implicated in Ca(2+)-dependent exocytosis of neurotransmitter.
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| Kawabe H, Sakisaka T, Yasumi M, Shingai T, Izumi G, Nagano F, Deguchi-Tawarada M, Takeuchi M, Nakanishi H, Takai Y.
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| Genes Cells 8(6):537-46. 2003
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| 12 | RAB3GAP1
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| Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein.
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| Nagano F, Sasaki T, Fukui K, Asakura T, Imazumi K, Takai Y.
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| J Biol Chem 273(38):24781-5.
1998
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| 13 | RAB3GAP1
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| Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins.
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| Fukui K, Sasaki T, Imazumi K, Matsuura Y, Nakanishi H, Takai Y.
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| J Biol Chem 272(8):4655-8. 1997
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