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A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1.
van de Pavert SA, Meuleman J, Malysheva A, Aartsen WM, Versteeg I, Tonagel F, Kamphuis W, McCabe CJ, Seeliger MW, Wijnholds J. van de Pavert SA, et al. Among authors: seeliger mw. J Neurosci. 2007 Jan 17;27(3):564-73. doi: 10.1523/JNEUROSCI.3496-06.2007. J Neurosci. 2007. PMID: 17234588 Free PMC article.
Crb1 is a determinant of retinal apical Müller glia cell features.
van de Pavert SA, Sanz AS, Aartsen WM, Vos RM, Versteeg I, Beck SC, Klooster J, Seeliger MW, Wijnholds J. van de Pavert SA, et al. Among authors: seeliger mw. Glia. 2007 Nov 1;55(14):1486-97. doi: 10.1002/glia.20561. Glia. 2007. PMID: 17705196
Mpp4 recruits Psd95 and Veli3 towards the photoreceptor synapse.
Aartsen WM, Kantardzhieva A, Klooster J, van Rossum AG, van de Pavert SA, Versteeg I, Cardozo BN, Tonagel F, Beck SC, Tanimoto N, Seeliger MW, Wijnholds J. Aartsen WM, et al. Among authors: seeliger mw. Hum Mol Genet. 2006 Apr 15;15(8):1291-302. doi: 10.1093/hmg/ddl047. Epub 2006 Mar 6. Hum Mol Genet. 2006. PMID: 16520334
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. Alves CH, et al. Among authors: seeliger mw. Hum Mol Genet. 2013 Jan 1;22(1):35-50. doi: 10.1093/hmg/dds398. Epub 2012 Sep 21. Hum Mol Genet. 2013. PMID: 23001562
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. Pellissier LP, et al. Among authors: seeliger mw. PLoS Genet. 2013;9(12):e1003976. doi: 10.1371/journal.pgen.1003976. Epub 2013 Dec 5. PLoS Genet. 2013. PMID: 24339791 Free PMC article.
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. Pellissier LP, et al. Among authors: seeliger mw. Hum Mol Genet. 2014 Jul 15;23(14):3759-71. doi: 10.1093/hmg/ddu089. Epub 2014 Feb 23. Hum Mol Genet. 2014. PMID: 24565864
Targeted ablation of Crb2 in photoreceptor cells induces retinitis pigmentosa.
Alves CH, Pellissier LP, Vos RM, Garcia Garrido M, Sothilingam V, Seide C, Beck SC, Klooster J, Furukawa T, Flannery JG, Verhaagen J, Seeliger MW, Wijnholds J. Alves CH, et al. Among authors: seeliger mw. Hum Mol Genet. 2014 Jul 1;23(13):3384-401. doi: 10.1093/hmg/ddu048. Epub 2014 Feb 2. Hum Mol Genet. 2014. PMID: 24493795
176 results