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Literature DB >> 22183349

RPGRIP1 and cone-rod dystrophy in dogs.

Tatyana Kuznetsova¹, Barbara Zangerl, Gustavo D Aguirre.

Abstract

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 2012 PMID： 22183349 PMCID： PMC3934191 DOI： 10.1007/978-1-4614-0631-0_42

Source DB: PubMed Journal: Adv Exp Med Biol ISSN： 0065-2598 Impact factor: 2.622

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29 in total

1. RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.

Authors: Hemant Khanna; Toby W Hurd; Concepcion Lillo; Xinhua Shu; Sunil K Parapuram; Shirley He; Masayuki Akimoto; Alan F Wright; Ben Margolis; David S Williams; Anand Swaroop
Journal: J Biol Chem Date: 2005-07-25 Impact factor: 5.157

2. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

Authors: Maxence V Nachury; Alexander V Loktev; Qihong Zhang; Christopher J Westlake; Johan Peränen; Andreas Merdes; Diane C Slusarski; Richard H Scheller; J Fernando Bazan; Val C Sheffield; Peter K Jackson
Journal: Cell Date: 2007-06-15 Impact factor: 41.582

Review 3. Protein networks and complexes in photoreceptor cilia.

Authors: Ronald Roepman; Uwe Wolfrum
Journal: Subcell Biochem Date: 2007

Review 4. Centrins in retinal photoreceptor cells: regulators in the connecting cilium.

Authors: Philipp Trojan; Norbert Krauss; Hui-Woog Choe; Andreas Giessl; Alexander Pulvermüller; Uwe Wolfrum
Journal: Prog Retin Eye Res Date: 2008-01-31 Impact factor: 21.198

5. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

Authors: Edgar A Otto; Bart Loeys; Hemant Khanna; Jan Hellemans; Ralf Sudbrak; Shuling Fan; Ulla Muerb; John F O'Toole; Juliana Helou; Massimo Attanasio; Boris Utsch; John A Sayer; Concepcion Lillo; David Jimeno; Paul Coucke; Anne De Paepe; Richard Reinhardt; Sven Klages; Motoyuki Tsuda; Isao Kawakami; Takehiro Kusakabe; Heymut Omran; Anita Imm; Melissa Tippens; Pamela A Raymond; Jo Hill; Phil Beales; Shirley He; Andreas Kispert; Benjamin Margolis; David S Williams; Anand Swaroop; Friedhelm Hildebrandt
Journal: Nat Genet Date: 2005-02-20 Impact factor: 38.330

6. Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis.

Authors: C S Mellersh; M E G Boursnell; L Pettitt; E J Ryder; N G Holmes; D Grafham; O P Forman; J Sampson; K C Barnett; S Blanton; M M Binns; M Vaudin
Journal: Genomics Date: 2006-06-27 Impact factor: 5.736

7. Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.

Authors: Ronald Roepman; Stef J F Letteboer; Heleen H Arts; Sylvia E C van Beersum; Xinrong Lu; Elmar Krieger; Paulo A Ferreira; Frans P M Cremers
Journal: Proc Natl Acad Sci U S A Date: 2005-12-09 Impact factor: 11.205

8. Clinical findings in early onset cone-rod dystrophy in the Standard Wire-haired Dachshund.

Authors: Ernst O Ropstad; Ellen Bjerkås; Kristina Narfström
Journal: Vet Ophthalmol Date: 2007 Mar-Apr Impact factor: 1.644

9. CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease.

Authors: William Y Tsang; Carine Bossard; Hemant Khanna; Johan Peränen; Anand Swaroop; Vivek Malhotra; Brian David Dynlacht
Journal: Dev Cell Date: 2008-08 Impact factor: 12.270