1 | CRB2, SRN5
|
| Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome.
|
| Ebarasi L, Ashraf S, Bierzynska A, Gee HY, McCarthy HJ, Lovric S, Sadowski CE, Pabst W, Vega-Warner V, Fang H, Koziell A, Simpson MA, Dursun I, Serdaroglu E, Levy S, Saleem MA, Hildebrandt F, Majumdar A.
|
| Am J Hum Genet 96(1):153-61. doi: 10.1016/j.ajhg.2014.11.014. Epub 2014 Dec 31.
2015
|
2 | CRB2
|
| CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein.
|
| Slavotinek A, Kaylor J, Pierce H, Cahr M, DeWard SJ, Schneidman-Duhovny D, Alsadah A, Salem F, Schmajuk G, Mehta L.
|
| Am J Hum Genet 96(1):162-9. doi: 10.1016/j.ajhg.2014.11.013. Epub 2014 Dec 31.
2015
|
3 | CRB1, CRB2
|
| CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice.
|
| Pellissier LP, Lundvig DM, Tanimoto N, Klooster J, Vos RM, Richard F, Sothilingam V, Garcia Garrido M, Le Bivic A, Seeliger MW, Wijnholds J.
|
| Hum Mol Genet 23(14):3759-71. doi: 10.1093/hmg/ddu089.
2014
|
4 | CRB1, CRB2
|
| Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene.
|
| Alves CH, Sanz AS, Park B, Pellissier LP, Tanimoto N, Beck SC, Huber G, Murtaza M, Richard F, Sridevi Gurubaran I, Garcia Garrido M, Levelt CN, Rashbass P, Le Bivic A, Seeliger MW, Wijnholds J.
|
| Hum Mol Genet 22(1):35-50. doi: 10.1093/hmg/dds398. Epub 2012 Sep 21.
2013
|
5 | CRB1, CRB2
|
| Targeted ablation of CRB1 and CRB2 in retinal progenitor cells mimics Leber congenital amaurosis.
|
| Pellissier LP, Alves CH, Quinn PM, Vos RM, Tanimoto N, Lundvig DM, Dudok JJ, Hooibrink B, Richard F, Beck SC, Huber G, Sothilingam V, Garcia Garrido M, Le Bivic A, Seeliger MW, Wijnholds J.
|
| PLoS Genet 9(12):e1003976. doi: 10.1371/journal.pgen.1003976.
2013
|
6 | CHEK1, CRB2
|
| Phosphorylation-dependent interactions between Crb2 and Chk1 are essential for DNA damage checkpoint.
|
| Qu M, Yang B, Tao L, Yates JR 3rd, Russell P, Dong MQ, Du LL.
|
| PLoS Genet 8(7):e1002817. doi: 10.1371/journal.pgen.1002817. Epub 2012 Jul 5.
2012
|
7 | CRB2
|
| Deficiency in Crumbs homolog 2 (Crb2) affects gastrulation and results in embryonic lethality in mice.
|
| Xiao Z, Patrakka J, Nukui M, Chi L, Niu D, Betsholtz C, Pikkarainen T, Vainio S, Tryggvason K.
|
| Dev Dyn 240(12):2646-56. doi: 10.1002/dvdy.22778. Erratum in: Dev Dyn. 2012 Feb;241(2):431. Pikkarainan, Timo [corrected to Pikkarainen, 2011
|
8 | CRB2
|
| The apical polarity determinant Crumbs 2 is a novel regulator of ESC-derived neural progenitors.
|
| Boroviak T, Rashbass P.
|
| Stem Cells 29(2):193-205. doi: 10.1002/stem.567.
2011
|
9 | CRB2
|
| Requirement for the phospho-H2AX binding module of Crb2 in double-strand break targeting and checkpoint activation.
|
| Sanders SL, Arida AR, Phan FP.
|
| Mol Cell Biol 30(19):4722-31. doi: 10.1128/MCB.00404-10. Epub 2010 Aug 2.
2010
|
10 | CRB2, H2AFX
|
| BRCT domain interactions with phospho-histone H2A target Crb2 to chromatin at double-strand breaks and maintain the DNA damage checkpoint.
|
| Sofueva S, Du LL, Limbo O, Williams JS, Russell P.
|
| Mol Cell Biol 30(19):4732-43. doi: 10.1128/MCB.00413-10. Epub 2010 Aug 2.
2010
|
11 | CRB2
|
| Human CRB2 inhibits gamma-secretase cleavage of amyloid precursor protein by binding to the presenilin complex.
|
| Mitsuishi Y, Hasegawa H, Matsuo A, Araki W, Suzuki T, Tagami S, Okochi M, Takeda M, Roepman R, Nishimura M.
|
| J Biol Chem 285(20):14920-31. doi: 10.1074/jbc.M109.038760. Epub 2010 Mar 18.
2010
|
12 | CRB2
|
| Structural and functional analysis of the Crb2-BRCT2 domain reveals distinct roles in checkpoint signaling and DNA damage repair.
|
| Kilkenny ML, Doré AS, Roe SM, Nestoras K, Ho JC, Watts FZ, Pearl LH.
|
| Genes Dev 22(15):2034-47. doi: 10.1101/gad.472808.
2008
|
13 | CRB1, CRB2, CRB3
|
| Overexpression of human CRB1 or related isoforms, CRB2 and CRB3, does not regulate the human presenilin complex in culture cells.
|
| Pardossi-Piquard R, Chen F, Silva-Gagliardi NF, Szego M, McInnes R, McGlade CJ, St George-Hyslop P, Fraser PE.
|
| Biochemistry 46(48):13704-10. Epub 2007 Nov 8.
2007
|
14 | CRB2
|
| Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.
|
| van den Hurk JA, Rashbass P, Roepman R, Davis J, Voesenek KE, Arends ML, Zonneveld MN, van Roekel MH, Cameron K, Rohrschneider K, Heckenlively JR, Koenekoop RK, Hoyng CB, Cremers FP, den Hollander AI.
|
| Mol Vis 11:263-73. 2005
|
15 | CRB2
|
| Identification and characterization of Crumbs homolog 2 gene at human chromosome 9q33.3.
|
| Katoh M, Katoh M.
|
| Int J Oncol 24(3):743-9. 2004
|