Zobrazeno 1 - 10
of 47
pro vyhledávání: '"experimental and clinical research and treatment. [Hereditary and acquired vitreo-retinal disorders]"'
Autor:
Yoshikazu Imanishi, Peter S. Nelson, Geeng Fu Jang, Masazumi Matsumura, Krzysztof Palczewski, C.A.G.G. Driessen, Françoise Haeseleer
Publikováno v:
Journal of Biological Chemistry, 277, 45537-46
Journal of Biological Chemistry, 277, 47, pp. 45537-46
Journal of Biological Chemistry, 277, 47, pp. 45537-46
Contains fulltext : 185315.pdf (Publisher’s version ) (Open Access) Retinoids are chromophores involved in vision, transcriptional regulation, and cellular differentiation. Members of the short chain alcohol dehydrogenase/reductase superfamily cata
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::155628a29d024e315c2738c107403c75
https://doi.org/10.1074/jbc.m208882200
https://doi.org/10.1074/jbc.m208882200
Autor:
Ronald E. Stenkamp, C.A.G.G. Driessen, Slawomir Filipek, Krzysztof Palczewski, David C. Teller
Publikováno v:
Biochimica et Biophysica Acta. Biomembranes, 1565, 2, pp. 168-82
Biochimica et Biophysica Acta. Biomembranes, 1565, 168-82
Biochimica et Biophysica Acta. Biomembranes, 1565, 168-82
Item does not contain fulltext The crystal structure of rhodopsin has provided the first three-dimensional molecular model for a G-protein-coupled receptor (GPCR). Alignment of the molecular model from the crystallographic structure with the helical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46ac1116e4f37009f1e8edcc45910151
Autor:
Kirsti U Eerola, Hans R Vrijland, Albert L. Aandekerk, Hubertus P.H Kremer, August F. Deutman, Johannes R.M. Cruysberg
Publikováno v:
American Journal of Ophthalmology, 133, 410-3
American Journal of Ophthalmology, 133, 3, pp. 410-3
American Journal of Ophthalmology, 133, 3, pp. 410-3
Item does not contain fulltext PURPOSE: In 1980, we published in the American Journal of Ophthalmology two siblings with hereditary ataxia and atrophic maculopathy. The report is cited in the literature as autosomal dominant cerebellar ataxia with re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5138d09b9485e5bbd6bc8742bff59e70
https://doi.org/10.1016/s0002-9394(01)01333-2
https://doi.org/10.1016/s0002-9394(01)01333-2
Autor:
Jan Wijnholds, Vania Broccoli, Andrea Ballabio, Yvette J. M. de Kok, Anneke I. den Hollander, Frans P.M. Cremers, Michela Ghiani
Publikováno v:
Mechanisms of Development, 110, 1-2, pp. 203-7
Mechanisms of Development, 110, 203-7
Mechanisms of Development, 110, 203-7
Item does not contain fulltext Mutations in the human Crumbs homologue 1 (CRB1) gene cause severe retinal dystrophies. CRB1 is homologous to Drosophila Crumbs, a protein essential for establishing and maintaining epithelial polarity. We have isolated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::403127b35bfc5cb78464854bce7c5d72
https://doi.org/10.1016/s0925-4773(01)00568-8
https://doi.org/10.1016/s0925-4773(01)00568-8
Publikováno v:
Journal of Cataract and Refractive Surgery, 28, 1, pp. 175-9
Journal of Cataract and Refractive Surgery, 28, 175-9
Journal of Cataract and Refractive Surgery, 28, 175-9
Item does not contain fulltext We present 3 cases of flap loss within 2 weeks of unilateral laser in situ keratomileusis. In all patients, spontaneous regeneration of the epithelial layer, covering the ablated stroma, was expected. In 2 patients, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2000129bfc61da37bb494a4abdf3c0b
https://doi.org/10.1016/s0886-3350(01)00879-3
https://doi.org/10.1016/s0886-3350(01)00879-3
Publikováno v:
Human Molecular Genetics, 11, 1169-76
Human Molecular Genetics, 11, 10, pp. 1169-76
Human Molecular Genetics, 11, 10, pp. 1169-76
Item does not contain fulltext Leber congenital amaurosis (LCA) is the most common inherited cause of blindness in childhood and is characterised by a severe retinal dystrophy before the age of one year. Six genes have been identified that together a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ad1ae428d26727713c2d92092e0cc3f
https://hdl.handle.net/2066/134198
https://hdl.handle.net/2066/134198
Publikováno v:
Nederlands Tijdschrift voor Geneeskunde, 146, 34, pp. 1581-4
Nederlands Tijdschrift voor Geneeskunde, 146, 1581-4
Nederlands Tijdschrift voor Geneeskunde, 146, 1581-4
Item does not contain fulltext Autosomal recessive Stargardt disease is caused by mutations in the ABCA4 gene. Mutations in ABCA4 are also found in two-thirds of cases with autosomal recessive cone-rod dystrophy, and a small fraction of patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::620dc0ca0b3e71a834d00104f2271094
https://hdl.handle.net/2066/120714
https://hdl.handle.net/2066/120714
Autor:
Daphne Gamer, Samuel G. Jacobson, Martina Broghammer, Roberto Giorda, Roberto Salati, Ulrich Kellner, Carel B. Hoyng, Sinan Tatlipinar, Susanne Kohl, Thomas Rosenberg, Pierre Bitoun, Gerhard Wolff, Herbert Jägle, Bernd Wissinger, E. Cumhur Sener, Eberhart Zrenner, Günter Rudolph, Sabine Tippmann, Frans P.M. Cremers, Marianne Schwartz, Tim Marx, Bernhard Jurklies, Eckart Apfelstedt-Sylla, Claudio Castellan, Christine Verellen-Dumoulin, Simone Mayer, Birgit Lorenz, Sten Andréasson, Lindsay T. Sharpe
Publikováno v:
American Journal of Human Genetics, 69, 4, pp. 722-737
American Journal of Human Genetics, 69, 722-737
American Journal of Human Genetics, 69, 722-737
We recently showed that mutations in the CNGA3 gene encoding the alpha -subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We now report the results of a first comprehensiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0acfee60e05a5e4c554d369542ad42be
Autor:
Ana-Maria Lennon-Duménil, Peter J. Peters, Hidde L. Ploegh, Herman S. Overkleeft, Karine Valentijn, Paula Wolf Bryant, Rebecca A. Roberts, Christoph Driessen, Elizabeth K. Bikoff, Ann H. Erickson
Publikováno v:
EMBO Journal, 20, 15, pp. 4055-64
EMBO Journal, 20, 4055-64
EMBO Journal, 20, 4055-64
Item does not contain fulltext The p41 splice variant of major histocompatibility complex (MHC) class II-associated invariant chain (Ii) contains a 65 aa segment that binds to the active site of cathepsin L (CatL), a lysosomal cysteine protease invol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aee519c7457cbc0fceb6d446a6a1822
https://doi.org/10.1093/emboj/20.15.4055
https://doi.org/10.1093/emboj/20.15.4055
Autor:
John H. Kinney, Sally J. Marshall, C.H. Driessen, John A. Pople, T.M. Breunig, Grayson W. Marshall
Publikováno v:
Journal of Dental Research, 80, 1555-9
Journal of Dental Research, 80, 6, pp. 1555-9
Journal of Dental Research, 80, 6, pp. 1555-9
Item does not contain fulltext High-resolution synchrotron radiation computed tomography (SRCT) and small-angle x-ray scattering (SAXS) were performed on normal and dentinogenesis imperfecta type II (DI-II) teeth. The SRCT showed that the mineral con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::555fd3b2800ab1379571f907568253cd
https://doi.org/10.1177/00220345010800061501
https://doi.org/10.1177/00220345010800061501