| Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family. | Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.
Ullah W, Ilyas M, Tariq M, Imdad M, Ullah I, Efthymiou S, Faheem M, Abbas M, SYNAPS Study Group, Aamir M, Nouman M, Houlden H. | 06/15/2023 |
| Proteasomal degradation of p130 facilitate cell cycle deregulation and impairment of cellular differentiation in high-risk Human Papillomavirus 16 and 18 E7 transfected cells. | Proteasomal degradation of p130 facilitate cell cycle deregulation and impairment of cellular differentiation in high-risk Human Papillomavirus 16 and 18 E7 transfected cells.
Gandhi S, Nor Rashid N, Mohamad Razif MF, Othman S. | 01/22/2022 |
| Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights. | Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.
Abdel-Hamid MS, Abdel-Ghafar SF, Ismail SR, Desouky LM, Issa MY, Effat LK, Zaki MS. | 08/21/2021 |
| Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report. | Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report.
Khalesi R, Razmara E, Asgaritarghi G, Tavasoli AR, Riazalhosseini Y, Auld D, Garshasbi M., Free PMC Article | 06/19/2021 |
| [Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene]. | [Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene].
Yang D, Wang X, Yang J, Liu D, Li D. | 01/9/2021 |
| Mutations in RAB3GAP1 gene are associated with Martsolf and Warburg micro syndromes. | Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.
Koparir A, Karatas OF, Yilmaz SS, Suer I, Ozer B, Yuceturk B, Ozen M. | 04/25/2020 |
| overexpressing p130 or E2F4 significantly improved migration but not proliferation of mMSCs. Our data suggest that cell cycle regulation may be involved in p130/E2F4-mediated changes in the multipotential abilities of bone-marrow-derived mesenchymal stem cells (MSCs). | Stable overexpression of p130/E2F4 affects the multipotential abilities of bone-marrow-derived mesenchymal stem cells.
Zhang X, Chen J, Liu A, Xu X, Xue M, Xu J, Yang Y, Qiu H, Guo F. | 10/5/2019 |
| Whole-exome sequencing, using DNA of the first fetus, was performed shortly after the birth of a male child, and two truncating RAB3GAP1 mutations were detected: c.538G>T; p. (Glu180*) and c.943C>T; p. (Arg315*). | Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.
Trkova M, Hynek M, Dudakova L, Becvarova V, Hlozanek M, Raskova D, Vincent AL, Liskova P. | 10/28/2017 |
| show that FOXC1 regulates the expression of RAB3GAP1, RAB3GAP2 and SNAP25 | FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25.
Rasnitsyn A, Doucette L, Seifi M, Footz T, Raymond V, Walter MA., Free PMC Article | 10/14/2017 |
| RAB18 modulates macroautophagy and proteostasis, and is dependent on activity of RAB3GAP1 and RAB3GAP2. | The RAB GTPase RAB18 modulates macroautophagy and proteostasis.
Feldmann A, Bekbulat F, Huesmann H, Ulbrich S, Tatzelt J, Behl C, Kern A. | 06/3/2017 |
| Homozygosity mapping using single nucleotide polymorphism (SNP) microarray data to identify the causative gene in a case with Warburg Micro syndrome (WARBM). | Consanguinity as an Adjunct Diagnostic Tool.
Srivastava P, Saxena D, Joshi S, Phadke SR. | 03/4/2017 |
| sequencing of RAB3GAP1 revealed novel compound heterozygous mutations in the siblings: a paternally inherited missense mutation (c.560G>C; p.Arg187Pro) in exon 7 and a maternally derived nonsense mutation (c.1009C>T; p.Arg337Ter) in exon 12. | Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome.
Asahina M, Endoh Y, Matsubayashi T, Fukuda T, Ogata T. | 12/17/2016 |
| Warburg Micro syndrome is caused by RAB3GAP deficiency. | Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.
Handley MT, Carpanini SM, Mali GR, Sidjanin DJ, Aligianis IA, Jackson IJ, FitzPatrick DR., Free PMC Article | 03/5/2016 |
| RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy | RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy.
Spang N, Feldmann A, Huesmann H, Bekbulat F, Schmitt V, Hiebel C, Koziollek-Drechsler I, Clement AM, Moosmann B, Jung J, Behrends C, Dikic I, Kern A, Behl C., Free PMC Article | 12/12/2015 |
| results suggest that the binding of vesicle-associated membrane protein-associated protein B(VAP-B) to Rab3 GTPase activating protein (Rab3GAP1) is implicated in the regulation of nuclear envelope formation through ER-Golgi intermediate compartment | VAP-B binds to Rab3GAP1 at the ER: its implication in nuclear envelope formation through the ER-Golgi intermediate compartment.
Hantan D, Yamamoto Y, Sakisaka T. | 10/17/2015 |
| A large intragenic homozygous RAB3GAP1 microdeletion is associated with Warburg micro syndrome 1. | Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
Picker-Minh S, Busche A, Hartmann B, Spors B, Klopocki E, Hübner C, Horn D, Kaindl AM., Free PMC Article | 07/25/2015 |
| The stage catalyzed by Rab3 is in a unidirectional, hierarchical connection in which the intra-acrosomal calcium mobilization arm was subordinated to the fusion protein arm; somewhere after Rab3, the pathways became independent. | Epac, Rap and Rab3 act in concert to mobilize calcium from sperm's acrosome during exocytosis.
Ruete MC, Lucchesi O, Bustos MA, Tomes CN., Free PMC Article | 04/11/2015 |
| Rab18 and a Rab18 GEF complex of Rab3GAP1 and Rab3GAP2 have roles in the endoplasmic reticulum structure | Rab18 and a Rab18 GEF complex are required for normal ER structure.
Gerondopoulos A, Bastos RN, Yoshimura S, Anderson R, Carpanini S, Aligianis I, Handley MT, Barr FA., Free PMC Article | 08/9/2014 |
| Our findings suggest that RAB3GAP1 and ZNF365 are relevant candidate genes for SCD and will contribute to the mechanistic understanding of SCD susceptibility. | Novel loci associated with increased risk of sudden cardiac death in the context of coronary artery disease.
Huertas-Vazquez A, Nelson CP, Guo X, Reinier K, Uy-Evanado A, Teodorescu C, Ayala J, Jerger K, Chugh H, WTCCC+, Braund PS, Deloukas P, Hall AS, Balmforth AJ, Jones M, Taylor KD, Pulit SL, Newton-Cheh C, Gunson K, Jui J, Rotter JI, Albert CM, Samani NJ, Chugh SS., Free PMC Article | 11/16/2013 |
| One-hundred and forty-four Micro and nine Martsolf families were investigated, identifying mutations in RAB3GAP1 in 41% of cases, mutations in RAB3GAP2 in 7% of cases, and mutations in RAB18 in 5% of cases | Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
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. | 10/19/2013 |
| This replication and meta-analysis study showed that genetic variation upstream of the RAB3GAP1 gene is highly likely to be a contributor to the genetic risk of keratoconus development. | Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus.
Bae HA, Mills RA, Lindsay RG, Phillips T, Coster DJ, Mitchell P, Wang JJ, Craig JE, Burdon KP., Free PMC Article | 09/28/2013 |
| Micro syndrome has been associated with causative mutations in three disease genes: RAB3GAP1, RAB3GAP2 and RAB18. Martsolf syndrome has been associated with a mutation in RAB3GAP2.[Review] | RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.
Handley MT, Aligianis IA. | 05/11/2013 |
| The RAB3GAP gene encodes a protein which is a key regulator of the Rab3 pathway implicated in exocytic release of ocular and neurodevleopmental trophic factors. | Warburg micro syndrome in two children from a highly inbred Turkish family.
Yildirim MS, Zamani AG, Bozkurt B. | 09/1/2012 |
| Mutation in RAB3GAP1 is associated with warburg micro syndrome. | Warburg Micro syndrome.
Dursun F, Güven A, Morris-Rosendahl D. | 07/28/2012 |
| study found five new mutations in the RAB3GAP1 gene in seven patients with suspected Micro Syndrome from families with Turkish, Palestinian, Danish, and Guatemalan backgrounds | New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
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., Free PMC Article | 02/12/2011 |