نتائج البحث - "Nasrin Sorusch"

المصدر: Nature cell biology
Nature Cell Biology, 17, 8, pp. 1074-87
Nature Cell Biology, 17, 1074-87
Nature Cell Biology, 17(8), 1074. Nature Publishing Group

مصطلحات موضوعية: PRPF31, Pregnancy Proteins, Inbred C57BL, Ciliopathies, Mice, Immunologic, Cerebellum, Databases, Genetic, Eye Abnormalities, Non-U.S. Gov't, Zebrafish, Exome sequencing, Mice, Knockout, Genetics, Research Support, Non-U.S. Gov't, Cilium, High-Throughput Nucleotide Sequencing, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, Kidney Diseases, Cystic, Phenotype, Kidney Diseases, RNA Interference, Abnormalities, Multiple, Functional genomics, Ciliary Motility Disorders, Genetic Markers, Ellis-Van Creveld Syndrome, Knockout, Jeune syndrome, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Biology, Research Support, Transfection, Retina, Article, whole-genome siRNA screen, Joubert syndrome, N.I.H, Databases, Cystic, reverse genetics, Research Support, N.I.H., Extramural, Genetic, Cerebellar Diseases, Ciliogenesis, Suppressor Factors, Journal Article, Suppressor Factors, Immunologic, medicine, Animals, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Photoreceptor Cells, Cilia, Genetic Testing, Caenorhabditis elegans, Extramural, Membrane Proteins, Proteins, Reproducibility of Results, Cell Biology, medicine.disease, Mice, Inbred C57BL, Cytoskeletal Proteins, Ciliopathy, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], HEK293 Cells, Mutation, ciliopathies, Genome-Wide Association Study

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08f0b712fcab169cef607b95c1a1e715
https://doi.org/10.1038/ncb3201

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4

The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association

المؤلفون: Frank Zach, Heidi Stöhr, Felix Grassmann, Thomas Langmann, Uwe Wolfrum, Nasrin Sorusch

المصدر: Human Molecular Genetics; Vol 21

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0aec3eea63c843088783e8f8c5d1816
https://doi.org/10.1093/hmg/dds268

5

Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex

المؤلفون: Kerstin Nagel-Wolfrum, Uwe Wolfrum, Nasrin Sorusch, Barbara Knapp, Katharina Bauß, Janet Plutniok, Ananya Samanta

المصدر: Human Molecular Genetics. :ddx027

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a92a66d7fb75de5adb2b410a314a401
https://doi.org/10.1093/hmg/ddx027

6

Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration

المؤلفون: Ernst R. Tamm, Herbert Jägle, Michael R. Boesl, Nasrin Sorusch, Katharina Dannhausen, Uwe Wolfrum, Heidi Stoehr, Alexander Aslanidis, Kerstin Nagel-Wolfrum, Albert Caramoy, Thomas Langmann, Sascha Fauser, Marcus Karlstetter

المصدر: Human molecular genetics. 23(19)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20b78a0a8d307d8255799d225f652f75
https://pubmed.ncbi.nlm.nih.gov/24833722

7

Usher syndrome protein network functions in the retina and their relation to other retinal ciliopathies

المؤلفون: Nasrin, Sorusch, Kirsten, Wunderlich, Katharina, Bauss, Kerstin, Nagel-Wolfrum, Uwe, Wolfrum

المصدر: Advances in experimental medicine and biology. 801

مصطلحات موضوعية: Polycystic Kidney Diseases, Leber Congenital Amaurosis, Humans, Cilia, Usher Syndromes, Retina, Retinitis Pigmentosa, Ciliary Motility Disorders, Encephalocele

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c0783543178937d078fb6eed5dd4f59b
https://pubmed.ncbi.nlm.nih.gov/24664740

8

Usher Syndrome Protein Network Functions in the Retina and their Relation to Other Retinal Ciliopathies

المؤلفون: Kirsten A. Wunderlich, Kerstin Nagel-Wolfrum, Katharina Bauss, Nasrin Sorusch, Uwe Wolfrum

المصدر: Retinal Degenerative Diseases ISBN: 9781461432081

مصطلحات موضوعية: Scaffold protein, Genetics, Retina, Usher syndrome, Biology, medicine.disease, Interactome, Ciliopathies, Ciliopathy, medicine.anatomical_structure, Retinitis pigmentosa, otorhinolaryngologic diseases, medicine, Retinal Dystrophies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7c426301daf2baae1e4beefe138a5eb5
https://doi.org/10.1007/978-1-4614-3209-8_67

9

The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route

المؤلفون: Joe Dragavon, Spencer L. Shorte, Iman Sahly, Samantha Papal, Nasrin Sorusch, Christine Petit, Kirian Legendre, Matteo Cortese, Aziz El-Amraoui, Uwe Wolfrum

المساهمون: Génétique et Physiologie de l'Audition, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Johannes Gutenberg - Universität Mainz = Johannes Gutenberg University (JGU), Imagopole (CITECH), Institut Pasteur [Paris] (IP), Syndrome de Usher et autres atteintes rétino-cochléaires, Institut de la Vision, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), This work was supported by the Agence Nationale de la recherche (ANR-07-MRARE-009-01), European Union Seventh Framework Programme, under grant agreement HEALTH-F2-2010-242013 (TREATRUSH), European Community's Seventh Framework Programme FP7/2009 under grant agreement number 241955 (SYSCILIA), LHW-Stiftung, Fondation Raymonde & Guy Strittmatter, Fighting Blindness, FAUN Stiftung (Suchert Foundation), Conny Maeva Charitable Foundation, Fondation Orange, ERC grant 294570-hair bundle, the French State program ‘Investissements d'Avenir' managed by the Agence Nationale de la Recherche (ANR-10-LABX-65), ‘the Foundation Fighting Blindness Paris Center Grant’ and the Fondation Voir et Entendre. S.P. benefited from two fellowships from MNERT (UPMC-CdV) and ‘Fondation Retina-France’., ANR-07-ERAR-0009,MTMPATHIES,Myotubularinopathies : common molecular mechanism and tissue specificity(2007), ANR-10-LABX-0065,LIFESENSES,DES SENS POUR TOUTE LA VIE(2010), European Project: 242013,EC:FP7:HEALTH,FP7-HEALTH-2009-single-stage,TREATRUSH(2010), European Project: 241955,EC:FP7:HEALTH,FP7-HEALTH-2009-two-stage,SYSCILIA(2010), European Project: 294570,EC:FP7:ERC,ERC-2011-ADG_20110310,HAIRBUNDLE(2012)

المصدر: Human Molecular Genetics
Human Molecular Genetics, 2013, 22 (18), pp.3773-3788. ⟨10.1093/hmg/ddt228⟩
Human Molecular Genetics; Vol 22

مصطلحات موضوعية: Opsin, Rhodopsin, Light Signal Transduction, genetic structures, [SDV]Life Sciences [q-bio], Cell Cycle Proteins, macromolecular substances, Biology, Myosins, Opsin transport, Retina, Motor protein, 03 medical and health sciences, Mice, 0302 clinical medicine, Myosin, otorhinolaryngologic diseases, Genetics, Animals, Humans, Spectrin, Molecular Biology, Genetics (clinical), 030304 developmental biology, Adaptor Proteins, Signal Transducing, 0303 health sciences, EPB41, General Medicine, eye diseases, Cell biology, Cytoskeletal Proteins, Myosin VIIa, biology.protein, Microtubule Proteins, sense organs, Usher Syndromes, 030217 neurology & neurosurgery, Visual phototransduction, HeLa Cells, Photoreceptor Cells, Vertebrate

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::516f1e6c1b71ef8e0b251175ead88310
https://pubmed.ncbi.nlm.nih.gov/23704327

10

The Usher syndrome 1G protein SANS participates in the transport of ciliary cargo in photoreceptor cells

المؤلفون: Ronald Roepman, Uwe Wolfrum, Katharina Bauß, Nasrin Sorusch, Tina Maerker, A Kunz, H. Kremer, Nora Overlack, E. van Wijk

المصدر: Cilia, Vol 1, Iss Suppl 1, p P48 (2012)
Cilia

مصطلحات موضوعية: Scaffold protein, Retinal degeneration, Genetics, Opsin, lcsh:Cytology, Protein subunit, Cilium, Cell Biology, Biology, medicine.disease, Opsin transport, Cell biology, Microtubule, Retinitis pigmentosa, Poster Presentation, medicine, sense organs, lcsh:QH573-671

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4569c92ed1c6022fbde41e82b815b03d
https://doaj.org/article/92a1ff7e0fbe43018a74437a48479679

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