| Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina. | Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina.
Stehle IF, Imventarza JA, Woerz F, Hoffmann F, Boldt K, Beyer T, Quinn PM, Ueffing M., Free PMC Article | 04/8/2024 |
| Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla. | Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
Tessier A, Roux N, Boutaud L, Lunel E, Hakkakian L, Parisot M, Garfa-Traoré M, Ichkou A, Elkhartoufi N, Bole C, Nitschke P, Amiel J, Martinovic J, Encha-Razavi F, Attié-Bitach T, Thomas S., Free PMC Article | 02/23/2023 |
| Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome. | Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome.
Simaab A, Krishin J, Alaradi SR, Haider N, Shah M, Ullah A, Abdullah A, Ahmad W, Hansen T, Basit S., Free PMC Article | 01/11/2023 |
| Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies. | Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies.
Möller-Kerutt A, Schönhoff B, Rellmann Y, George B, Braun DA, Pavenstädt H, Weide T., Free PMC Article | 01/11/2023 |
| CRB2 enhances malignancy of glioblastoma via activation of the NF-kappaB pathway. | CRB2 enhances malignancy of glioblastoma via activation of the NF-κB pathway.
Wang Y, Bao G, Zhang M, Xiang J, Zhou H, Wahafu A, Wu W, Ma X, Huo L, Bai X, Xie W, Liu P, Wang M. | 05/14/2022 |
| Podocyte-specific Crb2 knockout mice develop focal segmental glomerulosclerosis. | Podocyte-specific Crb2 knockout mice develop focal segmental glomerulosclerosis.
Tanoue A, Katayama K, Ito Y, Joh K, Toda M, Yasuma T, D'Alessandro-Gabazza CN, Kawachi H, Yan K, Ito M, Gabazza EC, Tryggvason K, Dohi K., Free PMC Article | 01/29/2022 |
| Data show that crumbs homolog 2 protein (CRB2) protein precedes the expression of crumbs homologue 1 protein (CRB1) in the developing retina. | Human iPSC-Derived Retinas Recapitulate the Fetal CRB1 CRB2 Complex Formation and Demonstrate that Photoreceptors and Müller Glia Are Targets of AAV5.
Quinn PM, Buck TM, Mulder AA, Ohonin C, Alves CH, Vos RM, Bialecka M, van Herwaarden T, van Dijk EHC, Talib M, Freund C, Mikkers HMM, Hoeben RC, Goumans MJ, Boon CJF, Koster AJ, Chuva de Sousa Lopes SM, Jost CR, Wijnholds J., Free PMC Article | 05/2/2020 |
| Thus, we conclude that CRB2 p.R1249G mutation causes retinitis pigmentosa (RP) via accelerating epithelial-mesenchymal transition (EMT), dysfunction and loss of retinal pigment epithelium cells, and establish CRB2 as a novel Crumbs family member associated with non-syndromic RP. | CRB2 mutation causes autosomal recessive retinitis pigmentosa.
Chen X, Jiang C, Yang D, Sun R, Wang M, Sun H, Xu M, Zhou L, Chen M, Xie P, Yan B, Liu Q, Zhao C. | 05/11/2019 |
| CRB2 may play an important role in the mechanistic pathway of developing podocytes through tyrosine phosphorylation by associating with mTORC1 activation. | Association of crumbs homolog-2 with mTORC1 in developing podocyte.
Hamano S, Nishibori Y, Hada I, Mikami N, Ito-Nitta N, Fukuhara D, Kudo A, Xiao Z, Nukui M, Patrakka J, Tryggvason K, Yan K., Free PMC Article | 02/9/2019 |
| Case Report: steroid-resistant nephrotic syndrome caused by a novel Crumbs homolog 2 mutation. | Long-term clinicopathologic observation in a case of steroid-resistant nephrotic syndrome caused by a novel Crumbs homolog 2 mutation.
Watanabe S, Aizawa T, Tsukaguchi H, Tsugawa K, Tsuruga K, Shono A, Nozu K, Iijima K, Joh K, Tanaka H. | 12/1/2018 |
| These findings demonstrate that Crb2 abnormalities caused by these mutations are the mechanism of steroid-resistant nephrotic syndrome | Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome.
Udagawa T, Jo T, Yanagihara T, Shimizu A, Mitsui J, Tsuji S, Morishita S, Onai R, Miura K, Kanda S, Kajiho Y, Tsurumi H, Oka A, Hattori M, Harita Y. | 03/10/2018 |
| Clinically, CRB2 should be assessed when ciliopathy is suspected, especially in Ashkenazi Jews, where we found that p.N800K carrier frequency is 1 of 64. Patients harboring CRB2 mutations should be tested for the complete range of ciliopathy manifestations. | Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
Jaron R, Rosenfeld N, Zahdeh F, Carmi S, Beni-Adani L, Doviner V, Picard E, Segel R, Zeligson S, Carmel L, Renbaum P, Levy-Lahad E. | 07/8/2017 |
| Additional sequence variants in genes involved in kidney development were found in patients with CRB2-related syndrome, suggesting that these variants may modify the phenotype. | Expansion of phenotype and genotypic data in CRB2-related syndrome.
Lamont RE, Tan WH, Innes AM, Parboosingh JS, Schneidman-Duhovny D, Rajkovic A, Pappas J, Altschwager P, DeWard S, Fulton A, Gray KJ, Krall M, Mehta L, Rodan LH, Saller DN Jr, Steele D, Stein D, Yatsenko SA, Bernier FP, Slavotinek AM., Free PMC Article | 06/24/2017 |
| The three families with six affected individuals present compelling evidence for the role of CRB2 in human disease, with a phenotype comprising severe, congenital neurological and renal involvement. | 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., Free PMC Article | 03/21/2015 |
| We demonstrate that CRB2 mutations result in loss of function and therefore constitute causative mutations leading to Nephrotic syndrome in humans. | 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., Free PMC Article | 03/21/2015 |
| Study showed that CRB1 and CRB2 in human retinas have an opposite pattern of expression in Muller glia and photoreceptor cells compared with mouse retinas, and that Crb2 influences the severity of the murine Crb1-linked retinal dystrophies. | 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. | 02/14/2015 |
| Observational study of gene-disease association. (HuGE Navigator) | Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.
Letra A, Menezes R, Govil M, Fonseca RF, McHenry T, Granjeiro JM, Castilla EE, Orioli IM, Marazita ML, Vieira AR., Free PMC Article | 09/15/2010 |
| results suggest that CRB2 functions as an inhibitory binding protein that is involved in the formation of a mature but inactive pool of the gamma-secretase complex | 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., Free PMC Article | 06/28/2010 |
| overexpression of human CRB1 and related isoforms, CRB2 and CRB3, had no effect on the levels of presenilin complex components, on NCT maturation or on PS endoproteolysis | 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. | 01/21/2010 |
| Crumbs homolog 2 gene maps to human chromosome 9q33.3 | Identification and characterization of Crumbs homolog 2 gene at human chromosome 9q33.3.
Katoh M, Katoh M, Katoh M, Katoh M. | 01/21/2010 |
| This study shows that CRB2 sequence variants are not a common cause of autosomal recessive RP and LCA. | 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. | 01/21/2010 |
| Using X-ray crystallography and NMR spectroscopy, we show that, despite low amino acid sequence conservation, both 53BP1 and Crb2 contain tandem tudor domains that interact with histone H4 specifically dimethylated at Lys20 (H4-K20me2). | Structural basis for the methylation state-specific recognition of histone H4-K20 by 53BP1 and Crb2 in DNA repair.
Botuyan MV, Lee J, Ward IM, Kim JE, Thompson JR, Chen J, Mer G., Free PMC Article | 01/21/2010 |
| The CRB2 gene encodes a transmembrane protein (1285 aa) and a secreted protein (1176 aa). The transmembrane isoform consists of 14 extracellular EGF-like domains, 3 extracellular laminin G-like domains, and a Crb cytoplasmic tail domain. | Identification and characterization of Crumbs homolog 2 gene at human chromosome 9q33.3.
Katoh M, Katoh M, Katoh M, Katoh M. | 05/15/2004 |