Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease

Autor: Sangermano, Riccardo, Bax, Nathalie M., Bauwens, Miriam, van den Born, L. Ingeborgh, De Baere, Elfride, Garanto, Alejandro, Collin, Rob W.J., Goercharn-Ramlal, Angelique S.A., den Engelsman-van Dijk, Anke H.A., Rohrschneider, Klaus, Hoyng, Carel B., Cremers, Frans P.M., Albert, Silvia

Publikováno v: In Ophthalmology June 2016 123(6):1375-1385

Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T-->C Mutation in Stargardt Disease

Autor: Carel B. Hoyng, Miriam Bauwens, Silvia Albert, Elfride De Baere, Angelique S.A. Goercharn-Ramlal, Klaus Rohrschneider, Anke H.A. den Engelsman-van Dijk, L. Ingeborgh van den Born, Nathalie M. Bax, Rob W.J. Collin, Riccardo Sangermano, Alejandro Garanto, Frans P.M. Cremers

Publikováno v: Ophthalmology, 123, 1375-85
Ophthalmology, 123, 6, pp. 1375-85

Item does not contain fulltext PURPOSE: To elucidate the functional effect of the ABCA4 variant c.5461-10T-->C, one of the most frequent variants associated with Stargardt disease (STGD1). DESIGN: Case series. PARTICIPANTS: Seventeen persons with STG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43c8d6fc0728fc907806ad4afa9abe3c
https://hdl.handle.net/2066/168048

On the development of extragonadal and gonadal human germ cells

Autor: Nannan He, Susana M. Chuva de Sousa Lopes, Aline Fernanda de Souza, Liesbeth van Iperen, Maria Gomes Fernandes, Angelique Goercharn-Ramlal, A. Marijne Heeren, Matthias S Roost, Lucette A. J. van der Westerlaken

Publikováno v: Biology Open, 5(2), 185-194
Biology open, 5(2), 185-194. Company of Biologists Ltd
Biology Open
Heeren, A M, He, N, de Souza, A F, Goercharn-Ramlal, A, van Iperen, L, Roost, M S, Gomes Fernandes, M M, van der Westerlaken, L A J & Chuva de Sousa Lopes, S M 2016, ' On the development of extragonadal and gonadal human germ cells ', Biology Open, vol. 5, no. 2, pp. 185-94 . https://doi.org/10.1242/bio.013847
Biology Open, 5(2), 185-94. Company of Biologists Ltd
BIOLOGY OPEN
Biology Open, Vol 5, Iss 2, Pp 185-194 (2016)

Human germ cells originate in an extragonadal location and have to migrate to colonize the gonadal primordia at around seven weeks of gestation (W7, or five weeks post conception). Many germ cells are lost along the way and should enter apoptosis, bu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3a944581f635c68a5a101e6991bd9e0
https://hdl.handle.net/1887/95212

The enigmatic meiotic dense body and its newly discovered component, SCML1, are dispensable for fertility and gametogenesis in mice.

Autor: Papanikos F; Institute of Physiological Chemistry, Medical Faculty of TU Dresden, Fiedlerstrasse 42, 01307, Dresden, Germany., Daniel K; Biotechnology Center of the TU Dresden, Tatzberg 47/49, 01307, Dresden, Germany., Goercharn-Ramlal A; Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands., Fei JF; DFG Center for Regenerative Therapies, Dresden (CRTD), Technische Universität Dresden, Dresden, 01307, Germany., Kurth T; DFG Center for Regenerative Therapies, Dresden (CRTD), Technische Universität Dresden, Dresden, 01307, Germany., Wojtasz L; Institute of Physiological Chemistry, Medical Faculty of TU Dresden, Fiedlerstrasse 42, 01307, Dresden, Germany., Dereli I; Institute of Physiological Chemistry, Medical Faculty of TU Dresden, Fiedlerstrasse 42, 01307, Dresden, Germany., Fu J; Biotechnology Center of the TU Dresden, Tatzberg 47/49, 01307, Dresden, Germany., Penninger J; Institute of Molecular Biotechnology of the Austrian Academy of Sciences, Vienna, Austria., Habermann B; Max Planck Institute of Biochemistry, Martinsried, Germany., Surani A; Wellcome Trust Cancer Research UK Gurdon Institute, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK., Stewart AF; Biotechnology Center of the TU Dresden, Tatzberg 47/49, 01307, Dresden, Germany., Toth A; Institute of Physiological Chemistry, Medical Faculty of TU Dresden, Fiedlerstrasse 42, 01307, Dresden, Germany. attila.toth@mailbox.tu-dresden.de.

Publikováno v: Chromosoma [Chromosoma] 2017 Jun; Vol. 126 (3), pp. 399-415. Date of Electronic Publication: 2016 May 10.