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

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RNA-binding protein is involved in aggregation of light neurofilament protein and is implicated in the pathogenesis of motor neuron degeneration

By Lin Hong   Zhai Jinbin   Schlaepfer William W.  

Human Molecular Genetics, Vol. 14, Iss. 23, 2005-12 ,pp. : 3643-3659

Oxford University Press

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Mfrp , a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6

By Kameya S.  

Human Molecular Genetics, Vol. 11, Iss. 16, 2002-08 ,pp. : 1879-1886

Oxford University Press

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Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene

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Human Molecular Genetics, Vol. 9, Iss. 2, 2000-01 ,pp. : 155-163

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Gene replacement therapy in the retinal degeneration slow ( rds ) mouse: the effect on retinal degeneration following partial transduction of the retina

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Human Molecular Genetics, Vol. 10, Iss. 21, 2001-10 ,pp. : 2353-2361

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