Literature DB >> 20493186

Focus on molecules: centrosomal protein 290 (CEP290).

Phillip Moradi1, Wayne L Davies, Donna S Mackay, Michael E Cheetham, Anthony T Moore.   

Abstract

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Year:  2010        PMID： 20493186     DOI： 10.1016/j.exer.2010.05.009

Source DB:  PubMed          Journal:  Exp Eye Res        ISSN： 0014-4835            Impact factor:   3.467


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  7 in total

Review 1.  Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.

Authors:  C C Ronquillo; P S Bernstein; W Baehr
Journal:  Vision Res       Date:  2012-07-20       Impact factor: 1.886

2.  Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration.

Authors:  Theodore G Drivas; Erika L F Holzbaur; Jean Bennett
Journal:  J Clin Invest       Date:  2013-09-24       Impact factor: 14.808

Review 3.  Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.

Authors:  Clare V Logan; Zakia Abdel-Hamed; Colin A Johnson
Journal:  Mol Neurobiol       Date:  2010-11-27       Impact factor: 5.590

4.  DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.

Authors:  Gisela G Slaats; Joshua C Saldivar; Julien Bacal; Michelle K Zeman; Andrew C Kile; Ann Marie Hynes; Shalabh Srivastava; Jekaterina Nazmutdinova; Krista den Ouden; Miriam S Zagers; Veronica Foletto; Marianne C Verhaar; Colin Miles; John A Sayer; Karlene A Cimprich; Rachel H Giles
Journal:  J Clin Invest       Date:  2015-08-24       Impact factor: 14.808

5.  Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype.

Authors:  Christin Hanke-Gogokhia; Vince A Chiodo; William W Hauswirth; Jeanne M Frederick; Wolfgang Baehr
Journal:  Mol Vis       Date:  2018-12-30       Impact factor: 2.367

6.  Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).

Authors:  Anna Skorczyk-Werner; Zuzanna Niedziela; Marcin Stopa; Maciej Robert Krawczyński
Journal:  Orphanet J Rare Dis       Date:  2020-12-11       Impact factor: 4.123

7.  Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.

Authors:  Leo Sheck; Wayne I L Davies; Phillip Moradi; Anthony G Robson; Neruban Kumaran; Alki C Liasis; Andrew R Webster; Anthony T Moore; Michel Michaelides
Journal:  Ophthalmology       Date:  2018-02-03       Impact factor: 12.079
  7 in total

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