Výsledky vyhledávání - "Positional cloning of genes underlying X linked retinitis pigmentosa and night blindness"

Positional cloning of the gene for X-linked retinitis pigmentosa 2

Autor: G.C.F. van Duijnhoven, Uwe Schwahn, J Dong, Myriam Hemberger, André Rosenthal, B. Hinzmann, Hans-Hilger Ropers, Frans P.M. Cremers, Arthur A.B. Bergen, Renate Kirschner, Thomas Rosenberg, Reinald Fundele, Wolfgang Berger, Steffen Lenzner, Alfred J. L. G. Pinckers, Silke Feil

Publikováno v: Nature genetics, 19(4), 327-332. Nature Publishing Group
Nature Genetics, 19, 327-332
Nature Genetics, 19, pp. 327-332

X-linked retinitis pigmentosa (XLRP) results from mutations in at least two different loci, designated RP2 and RP3, located at Xp11.3 and Xp21.1, respectively. The RP3 gene was recently isolated by positional cloning, whereas the RP2 locus was mapped

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a16bb609d979b67f44fe1ac254e205e4
https://doi.org/10.1038/1214

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Positional cloning of the gene for X-linked retinitis pigmentosa : homology with the guanine-nucleotide-exchange factor RCC1

Autor: Roepman, R., Duijnhoven, G.C.F. van, Rosenberg, T., Pinckers, A.J.L.G., Bleeker-Wagemakers, E.M., Bergen, A.A.B., Post, J.A., Beck, A.F., Reinhardt, R., Ropers, H.H., Cremers, F.P.M., Berger, W.

Publikováno v: Human Molecular Genetics, 5, 1035-1041
Human Molecular Genetics, 5, 7, pp. 1035-1041
Human Molecular Genetics, 5, pp. 1035-1041

Contains fulltext : 22748___.PDF (Publisher’s version ) (Open Access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::064369eec67daea75991394ad801b447
https://hdl.handle.net/2066/22748

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Isolation of retinal proteins that interact with retinitis pigmentosa GTPase regulator by interaction trap screen in yeast

Autor: Roepman, R., Schick, D., Ferreira, P.A.

Publikováno v: Methods in Enzymology . New York, 316, pp. 688-704
Methods in Enzymology . New York, 316, 688-704

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ffc7acbf460438099800218c510dbb0a
https://hdl.handle.net/2066/120752

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Elucidation of the molecular cause of retinitis pigmentosa type 3 (RP3)

Autor: Roepman, R.

Contains fulltext : 120746.pdf (Publisher’s version ) (Open Access) Katholieke Universiteit Nijmegen, 04 december 2000 Promotor : Ropers, H.H. Co-promotores : Berger, W., Cremers, F.P.M. 143 p.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f666f08f1d1416226d2d43423ca80a96
https://hdl.handle.net/2066/120746

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The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

Autor: Hans-Hilger Ropers, Frans P.M. Cremers, Nathalie Bernoud-Hubac, Wolfgang Berger, Ronald Roepman, Paulo Ademar Avelar Ferreira, Alessandra Maugeri, Diana Schick

Publikováno v: Human Molecular Genetics, 9, 2095-2105
Human Molecular Genetics, 9, pp. 2095-2105

Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene cause X-linked retinitis pigmentosa type 3 (RP3), a severe, progressive and degenerative retinal dystrophy eventually leading to complete blindness. RPGR is ubiquitously expressed, ye

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::375c54eb5543247373d66cf92277cf47
http://hdl.handle.net/2066/120762

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RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa

Autor: Hans-Hilger Ropers, Thomas Rosenberg, Robert Schultz-Heienbrok, Steffen Lenzner, Frans P.M. Cremers, Wolfgang Berger, Ronald Roepman, Renate Kirschner, Silke Feil

Publikováno v: Human Molecular Genetics, 8, 1571-1578
Human Molecular Genetics, 8, 8, pp. 1571-1578

X-linked retinitis pigmentosa (XLRP) is a genetically heterogeneous group of progressive retinal degenerations. The disease process is initiated by premature apoptosis of rod photoreceptor cells in the retina, which leads to reduced visual acuity and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f71dadb93dc3bd43d1d8311d2fa3b8fe
https://pubmed.ncbi.nlm.nih.gov/10401007

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Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)I

Autor: Dendunnen, J.T., Kraayenbrink, T., Schooneveld, M. van, Vosse, E. van de, Jong, P.T.V.M. de, Brink, J.B. ten, Schuurman, E.J.M., Tijmes, N., Ommen, G.J.B. van, Bergen, A.A.B., Andolfi, G., Montini, E., Oudet, C., Bolz, H., Kaplan, J., Orth, U., Gal, A., Hanauer, A., Bardelli, A.M., Ayuso, C., Diaz, F.J., Bitoun, P., Ventruto, V., Ballabio, A., Franco, B., Hiriyana, K.T., Bingham, E.L., McHenry, C., Pawar, H., Coats, C., Darga, T., Richards, J.E., Sieving, P.A., Huopaniemi, L., Rantala, A., Rosenberg, T., Dahl, N., Wright, A., Chapelle, A. dela, Alitalo, T., Lenzner, S., Brunner, H.G., Feil, S., Niesler, B., Schulz, U., Pinckers, A.J.L.G., Blankenagel, A., Ruether, K., Kellner, U., Rappold, G.A., Ropers, H.H., Kalscheuer, V.M.M., Berger, W., Trump, D., Walpole, S.M., Nicolaou, A., Gaythor, S.A., Pimenides, D., George, N.D.L., Moore, U.T., Yates, J.R.W.

Publikováno v: Human Molecular Genetics, 7, pp. 1185-1192
Human Molecular Genetics, 7, 1185-1192

Item does not contain fulltext 8 p.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4a51061c3ec679dd664c5ae725a49cc2
https://hdl.handle.net/2066/189361

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Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP)

Autor: Hans-Hilger Ropers, Frans P.M. Cremers, Gerard van Duijnhoven, Thomas Rosenberg, Ronald Roepman, Wolfgang Berger, André Rosenthal, Matthias Platzer, Esther van de Vosse, David Bauer

Publikováno v: Human Molecular Genetics, 5, 6, pp. 827-833
Human Molecular Genetics, 5, 827-833

The gene for the most frequent from of X-linked retinitis pigmentosa (XLRP), RP3, has been assigned by genetic and physical mapping to a segment of less than 1000 kbp, which is flanked by the marker DXS1110 and the ornithine transcarbamylase (OTC) ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59d865615292f6d7bfd031ce72290bd8
https://hdl.handle.net/2066/24063

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An animal model for Norrie disease (ND): gene targeting of the mouse ND gene

Autor: Wiljan Hendriks, H.J. Winkens, Hans-Hilger Ropers, Dietmar Bächner, Wolfgang Berger, Frank Oerlemans, Bé Wieringa, Dorien J. R. van de Pol, Horst Hameister

Publikováno v: Human Molecular Genetics, 5, 51-59
Human Molecular Genetics, 5, pp. 51-59
Human Molecular Genetics, 5, 1, pp. 51-59

In order to elucidate the cellular and molecular processes which are involved in Norrie disease (ND), we have used gene targeting technology to generate ND mutant mice. The murine homologue of the ND gene was cloned and shown to encode a polypeptide

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3969c2980868baf5740bc813d4928b0d
http://hdl.handle.net/2066/22729

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