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33744757686
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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
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Chang B., Khanna H., Hawes N., Jimeno D., He S., Lillo C., Parapuram S.K., Cheng H., Scott A., Hurd R.E., Sayer J.A., Otto E.A., Attanasio M., O'Toole J.F., Jin G., Shou C., Hildebrandt F., Williams D.S., Heckenlively J.R., Swaroop A. 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. Human Molecular Genetics 2006, 15:1847-1857.
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(2006)
Human Molecular Genetics
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, pp. 1847-1857
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Chang, B.1
Khanna, H.2
Hawes, N.3
Jimeno, D.4
He, S.5
Lillo, C.6
Parapuram, S.K.7
Cheng, H.8
Scott, A.9
Hurd, R.E.10
Sayer, J.A.11
Otto, E.A.12
Attanasio, M.13
O'Toole, J.F.14
Jin, G.15
Shou, C.16
Hildebrandt, F.17
Williams, D.S.18
Heckenlively, J.R.19
Swaroop, A.20
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2
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33748664605
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Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
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den Hollander A.I., Koenekoop R.K., Yzer S., Lopez I., Arends M.L., Voesenek K.E.J., Zonneveld M.N., Strom T.M., Meitinger T., Brunner H.G., Hoyng C.B., van den Born I., Rohrschneider K., Cremers F.P.M. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. American Journal of Human Genetics 2006, 79:556-561.
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American Journal of Human Genetics
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den Hollander, A.I.1
Koenekoop, R.K.2
Yzer, S.3
Lopez, I.4
Arends, M.L.5
Voesenek, K.E.J.6
Zonneveld, M.N.7
Strom, T.M.8
Meitinger, T.9
Brunner, H.G.10
Hoyng, C.B.11
van den Born, I.12
Rohrschneider, K.13
Cremers, F.P.M.14
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3
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56049117628
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CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium
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Kim J., Krishnaswami S.R., Gleeson J.G. CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium. Human Molecular Genetics 2008, 17:3796-3805.
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(2008)
Human Molecular Genetics
, vol.17
, pp. 3796-3805
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Kim, J.1
Krishnaswami, S.R.2
Gleeson, J.G.3
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4
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33745230448
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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
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Sayer J.A., Otto E.A., O'Toole J.F., Nurnberg G., Kennedy M.A., Becker C., Hennies H.C., Helou J., Attanasio M., Fausett B.V., Utsch B., Khanna H., Liu Y., Drummond I., Kawakami I., Kusakabe T., Tsuda M., Ma L., Lee H., Larson R.G., Allen S.J., Wilkinson C.J., Nigg E.A., Shou C., Lillo C., Williams D.S., Hoppe B., Kemper M.J., Neuhaus T., Parisi M.A., Glass I.A., Petry M., Kispert A., Gloy J., Ganner A., Walz G., Zhu X., Goldman D., Nurnberg P., Swaroop A., Leroux M.R., Hildebrandt F. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nature Genetics 2006, 38:674-681.
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(2006)
Nature Genetics
, vol.38
, pp. 674-681
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Sayer, J.A.1
Otto, E.A.2
O'Toole, J.F.3
Nurnberg, G.4
Kennedy, M.A.5
Becker, C.6
Hennies, H.C.7
Helou, J.8
Attanasio, M.9
Fausett, B.V.10
Utsch, B.11
Khanna, H.12
Liu, Y.13
Drummond, I.14
Kawakami, I.15
Kusakabe, T.16
Tsuda, M.17
Ma, L.18
Lee, H.19
Larson, R.G.20
Allen, S.J.21
Wilkinson, C.J.22
Nigg, E.A.23
Shou, C.24
Lillo, C.25
Williams, D.S.26
Hoppe, B.27
Kemper, M.J.28
Neuhaus, T.29
Parisi, M.A.30
Glass, I.A.31
Petry, M.32
Kispert, A.33
Gloy, J.34
Ganner, A.35
Walz, G.36
Zhu, X.37
Goldman, D.38
Nurnberg, P.39
Swaroop, A.40
Leroux, M.R.41
Hildebrandt, F.42
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