Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis

By Barbelanne Marine   Song Jenny   Ahmadzai Mustafa   Tsang William Y.  

Human Molecular Genetics, Vol. 22, Iss. 12, 2013-06 ,pp. : 2482-2494

Oxford University Press

Access to resources Recommend Favorite

Functional analysis of cone–rod homeobox (CRX) mutations associated with retinal dystrophy

By Chen S.  

Human Molecular Genetics, Vol. 11, Iss. 8, 2002-04 ,pp. : 873-884

Oxford University Press

Access to resources Recommend Favorite

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

By Cideciyan Artur V.   Rachel Rivka A.   Aleman Tomas S.   Swider Malgorzata   Schwartz Sharon B.   Sumaroka Alexander   Roman Alejandro J.   Stone Edwin M.   Jacobson Samuel G.   Swaroop Anand  

Human Molecular Genetics, Vol. 20, Iss. 7, 2011-04 ,pp. : 1411-1423

Oxford University Press

Access to resources Recommend Favorite

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

By Chang Bo   Khanna Hemant   Jimeno David   He Shirley   Lillo Concepcion   Parapuram Sunil K.   Cheng Hong   Scott Alison   Hurd Ron E.   Sayer John A.   Otto Edgar A.   Attanasio Massimo   O'Toole John F.   Jin Genglin   Shou Chengchao   Hildebrandt Friedhelm   Williams David S.   Heckenlively John R.   Swaroop Anand  

Human Molecular Genetics, Vol. 15, Iss. 11, 2006-06 ,pp. : 1847-1857

Oxford University Press

Access to resources Recommend Favorite

Mutations in the retinal guanylate cyclase ( RETGC-1 ) gene in dominant cone–rod dystrophy

By Hunt D.M.  

Human Molecular Genetics, Vol. 7, Iss. 7, 1998-07 ,pp. : 1179-1184

Oxford University Press

Access to resources Recommend Favorite