Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Christina Brennenstuhl"'
Autor:
Richard G. Weleber, Robert Lukowski, M. W. Seeliger, Christina Brennenstuhl, Anne E. Bausch, Xiangang Zong, Sascha Venturelli, John R. Heckenlively, Vithiyanjali Sothilingam, Stylianos Michalakis, Susanne C. Beck, Günther Rudolph, Naoyuki Tanimoto, Ulrich Kellner, Peggy Reuter, Anja K. Mayer, Ditta Zobor, Susanne Kohl, Bernd Wissinger, Gesa Astrid Hahn, Britta Baumann, Paul A. Sieving, Xi-Qin Ding, Nicole Weisschuh, Christian P. Hamel, Martin Biel, Robert K. Koenekoop, Peter Ruth, Peter Charbel Issa, Timm Krätzig, Gesine Huber, Elvir Becirovic, Markus Burkard, Katrin Junger
Publikováno v:
The Journal of clinical investigation, vol 128, iss 12
Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2018, 128 (12), pp.5663--5675. ⟨10.1172/JCI96098⟩
Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2018, 128 (12), pp.5663--5675. ⟨10.1172/JCI96098⟩
International audience; Mutations in CNGA3 and CNGB3, the genes encoding the subunits of the tetrameric cone photoreceptor cyclic nucleotide–gated ion channel, cause achromatopsia, a congenital retinal disorder characterized by loss of cone functio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::470e7ba4f9a01dd349b61665c4c93838
https://doi.org/10.1172/jci96098
https://doi.org/10.1172/jci96098
Autor:
Sylvia Bolz, Rebecca Wagner, Robert Lukowski, Markus Burkard, Christina Brennenstuhl, Bernd Wissinger, Gesine Huber, Mathias W. Seeliger, François Paquet-Durand, Peter Ruth, Naoyuki Tanimoto, Dragana Trifunović, Susanne C. Beck, Clement Kabagema-Bilan
Phosphodiesterase-6 (PDE6) is a multisubunit enzyme that plays a key role in the visual transduction cascade in rod and cone photoreceptors. Each type of photoreceptor utilizes discrete catalytic and inhibitory PDE6 subunits to fulfill its physiologi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3f6799364d9b2f3c04191278212129b
https://europepmc.org/articles/PMC4400339/
https://europepmc.org/articles/PMC4400339/
Autor:
Frans C. C. Riemslag, Susanne Kohl, Frans P.M. Cremers, Christina Brennenstuhl, Sylvia Bolz, Simone Schaich, Bernd Wissinger, Frauke Coppieters, Robert Lukowski, Françoise Meire, Elfride De Baere, Maria M. van Genderen, Carel B. Hoyng, Anneke I. den Hollander, Susanne Roosing
Publikováno v:
American Journal of Human Genetics, 91, 527-532
American Journal of Human Genetics, 91, 3, pp. 527-532
American Journal of Human Genetics, 91, 3, pp. 527-532
Item does not contain fulltext Achromatopsia (ACHM) is an autosomal-recessive retinal dystrophy characterized by color blindness, photophobia, nystagmus, and severely reduced visual acuity. Its prevalence has been estimated to about 1 in 30,000 indiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b405bf2b07c95f4c33fa4f8c8880d1aa
http://hdl.handle.net/2066/110258
http://hdl.handle.net/2066/110258