المؤلفون: Sanjurjo-Soriano, Carla, Jimenez-Medina, Carla, Erkilic, Nejla, Cappellino, Luisina, Lefevre, Arnaud, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe, van Wijk, Erwin, Roux, Anne-Françoise, Meunier, Isabelle, Kalatzis, Vasiliki

المساهمون: Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Université de Montpellier (UM), Johannes Gutenberg - Universität Mainz = Johannes Gutenberg University (JGU), Radboud University Medical Center Nijmegen (RadboudUMC), Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, ANR-20-RAR4-0006,GET-READY,Genetic therapy for EYS- and USH2A-associated retinal disease(2020)

المصدر: EISSN: 2666-2477 ; Human Genetics and Genomics Advances ; https://hal.science/hal-04597979 ; Human Genetics and Genomics Advances, 2023, 4 (4), pp.100229. ⟨10.1016/j.xhgg.2023.100229⟩

مصطلحات موضوعية: USH2A, Usher Syndrome, Usherin, clinical testing, genotype-phenotype correlations, molecular genetics, molecular pathophysiology, pathogenesis, retinal organoids, retinitis pigmentosa, MESH: Humans, MESH: Usher Syndromes, MESH: Retinitis Pigmentosa, MESH: Organoids, MESH: Phenotype, MESH: Extracellular Matrix Proteins, [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/37654703; PUBMED: 37654703; PUBMEDCENTRAL: PMC10465966

الاتاحة: https://hal.science/hal-04597979
https://hal.science/hal-04597979v1/document
https://hal.science/hal-04597979v1/file/1-s2.0-S2666247723000611-main.pdf
https://doi.org/10.1016/j.xhgg.2023.100229

المؤلفون: Nagel-Wolfrum, Kerstin, Fadl, Benjamin R., Becker, Mirjana M., Wunderlich, Kirsten A., Schäfer, Jessica, Sturm, Daniel, Fritze, Jacques, Gür, Burcu, Kaplan, Lew, Andreani, Tommaso, Goldmann, Tobias, Brooks, Matthew, Starostik, Margaret R., Lokhande, Anagha, Apel, Melissa, Fath, Karl R, Stingl, Katarina, Kohl, Susanne, DeAngelis, Margaret M., Schlötzer-Schrehardt, Ursula, Kim, Ivana K., Owen, Leah A., Vetter, Jan M., Pfeiffer, Norbert, Andrade-Navarro, Miguel A., Grosche, Antje, Swaroop, Anand, Wolfrum, Uwe

المصدر: Human Molecular Genetics. 32. 3. 2023. 431. 449. -

مصطلحات موضوعية: ddc:570

Relation: http://doi.org/10.25358/openscience-9073; https://openscience.ub.uni-mainz.de/handle/20.500.12030/9090

الاتاحة: https://openscience.ub.uni-mainz.de/handle/20.500.12030/9090
https://hdl.handle.net/20.500.12030/9090
https://doi.org/10.25358/openscience-9073

المؤلفون: Schäfer, Jessica, Wenck, Nicole, Janik, Katharina, Linnert, Joshua, Stingl, Katarina, Kohl, Susanne, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe

المساهمون: Foundation Fighting Blindness, Deutsche Forschungsgemeinschaft

المصدر: Frontiers in Cell and Developmental Biology ; volume 11 ; ISSN 2296-634X

الاتاحة: http://dx.doi.org/10.3389/fcell.2023.1130058
https://www.frontiersin.org/articles/10.3389/fcell.2023.1130058/full

المؤلفون: Nagel-Wolfrum, Kerstin.

المصدر: LF.

الاتاحة: http://publikationen.ub.uni-frankfurt.de/volltexte/2005/642/pdf/NagelWolfrumKerstin.pdf
http://publikationen.ub.uni-frankfurt.de/volltexte/2005/642/
http://deposit.ddb.de/cgi-bin/dokserv?idn=974384275

المؤلفون: Krzysko, Jacek, Maciag, Filip, Mertens, Anna, Güler, Baran Enes, Linnert, Joshua, Boldt, Karsten, Ueffing, Marius, Nagel-Wolfrum, Kerstin, Heine, Martin, Wolfrum, Uwe

المصدر: Cells. 11. -. 2022. -. -. 18

مصطلحات موضوعية: ddc:570

Relation: http://doi.org/10.25358/openscience-8184; https://openscience.ub.uni-mainz.de/handle/20.500.12030/8199

الاتاحة: https://openscience.ub.uni-mainz.de/handle/20.500.12030/8199
https://hdl.handle.net/20.500.12030/8199
https://doi.org/10.25358/openscience-8184

المؤلفون: Beryozkin, Avigail, Samanta, Ananya, Gopalakrishnan, Prakadeeswari, Khateb, Samer, Banin, Eyal, Sharon, Dror, Nagel-Wolfrum, Kerstin

المصدر: International Journal of Molecular Sciences. 23. -. 2022. -. -. 3541

مصطلحات موضوعية: ddc:570

Relation: http://doi.org/10.25358/openscience-8831; https://openscience.ub.uni-mainz.de/handle/20.500.12030/8847

الاتاحة: https://openscience.ub.uni-mainz.de/handle/20.500.12030/8847
https://hdl.handle.net/20.500.12030/8847
https://doi.org/10.25358/openscience-8831

المؤلفون: Grotz, Sophia, Schäfer, Jessica, Wunderlich, Kirsten A, Ellederova, Zdenka, Auch, Hannah, Bähr, Andrea, Runa‐Vochozkova, Petra, Fadl, Janet, Arnold, Vanessa, Ardan, Taras, Veith, Miroslav, Santamaria, Gianluca, Dhom, Georg, Hitzl, Wolfgang, Kessler, Barbara, Eckardt, Christian, Klein, Joshua, Brymova, Anna, Linnert, Joshua, Kurome, Mayuko, Zakharchenko, Valeri, Fischer, Andrea, Blutke, Andreas, Döring, Anna, Suchankova, Stepanka, Popelar, Jiri, Rodríguez‐Bocanegra, Eduardo, Dlugaiczyk, Julia, Straka, Hans, May‐Simera, Helen, Wang, Weiwei, Laugwitz, Karl‐Ludwig, Vandenberghe, Luk H, Wolf, Eckhard, Nagel‐Wolfrum, Kerstin, Peters, Tobias, Motlik, Jan, Fischer, M Dominik, Wolfrum, Uwe, Klymiuk, Nikolai

المساهمون: Deutsche Forschungsgemeinschaft, Foundation Fighting Blindness

المصدر: EMBO Molecular Medicine ; volume 14, issue 4 ; ISSN 1757-4676 1757-4684

الاتاحة: http://dx.doi.org/10.15252/emmm.202114817
https://onlinelibrary.wiley.com/doi/pdf/10.15252/emmm.202114817
https://onlinelibrary.wiley.com/doi/full-xml/10.15252/emmm.202114817
https://www.embopress.org/doi/pdf/10.15252/emmm.202114817

المؤلفون: Nagel-Wolfrum, Kerstin, Fadl, Benjamin R, Becker, Mirjana M, Wunderlich, Kirsten A, Schäfer, Jessica, Sturm, Daniel, Fritze, Jacques, Gür, Burcu, Kaplan, Lew, Andreani, Tommaso, Goldmann, Tobias, Brooks, Matthew, Starostik, Margaret R, Lokhande, Anagha, Apel, Melissa, Fath, Karl R, Stingl, Katarina, Kohl, Susanne, DeAngelis, Margaret M, Schlötzer-Schrehardt, Ursula, Kim, Ivana K, Owen, Leah A, Vetter, Jan M, Pfeiffer, Norbert, Andrade-Navarro, Miguel A, Grosche, Antje, Swaroop, Anand, Wolfrum, Uwe

المساهمون: ProRetina Foundation Germany, Deutsche Forschungsgemeinschaft, Foundation Fighting Blindness

المصدر: Human Molecular Genetics ; volume 32, issue 3, page 431-449 ; ISSN 0964-6906 1460-2083

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

الاتاحة: http://dx.doi.org/10.1093/hmg/ddac211
https://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddac211/46339818/ddac211.pdf
https://academic.oup.com/hmg/article-pdf/32/3/431/48691199/ddac211.pdf

المؤلفون: Schubert, Christopher, Winter, Maria, Ebert-Jung, Andrea, Kierszniowska, Sylwia, Nagel-Wolfrum, Kerstin, Schramm, Thorben, Link, Hannes, Winter, Sebastian, Unden, Gottfried

المصدر: Environmental microbiology. 23. 5. 2021. 2564. 2577. -

مصطلحات موضوعية: ddc:570

Relation: http://doi.org/10.25358/openscience-8147; https://openscience.ub.uni-mainz.de/handle/20.500.12030/8162

الاتاحة: https://openscience.ub.uni-mainz.de/handle/20.500.12030/8162
https://hdl.handle.net/20.500.12030/8162
https://doi.org/10.25358/openscience-8147

المؤلفون: Bürger, Claudia, Nagel-Wolfrum, Kerstin, Kunz, Christian, Wittig, Ilka, Butz, Karin, Hoppe-Seyler, Felix, Groner, Bernd

مصطلحات موضوعية: ddc:570, ddc:610

وصف الملف: application/pdf

Relation: https://doi.org/10.1074/jbc.M301629200

الاتاحة: http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/76101
https://nbn-resolving.org/urn:nbn:de:hebis:30:3-761015
https://doi.org/10.1074/jbc.M301629200
http://publikationen.ub.uni-frankfurt.de/files/76101/1-s2.0-S0021925820833249-main.pdf

المؤلفون: Gabriel, Elke, Albanna, Walid, Pasquini, Giovanni, Ramani, Anand, Josipovic, Natasa, Mariappan, Aruljothi, Schinzel, Friedrich, Karch, Celeste M., Bao, Guobin, Gottardo, Marco, Suren, Ata Alp, Hescheler, Jürgen, Nagel-Wolfrum, Kerstin, Persico, Veronica, Rizzoli, Silvio O., Altmüller, Janine, Riparbelli, Maria Giovanna, Callaini, Giuliano, Goureau, Olivier, Papantonis, Argyris, Busskamp, Volker, Schneider, Toni, Gopalakrishnan, Jay

المساهمون: Fritz Thyssen Stiftung, DFG

المصدر: Cell Stem Cell ; volume 28, issue 10, page 1740-1757.e8 ; ISSN 1934-5909

الاتاحة: http://dx.doi.org/10.1016/j.stem.2021.07.010
https://api.elsevier.com/content/article/PII:S1934590921002952?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1934590921002952?httpAccept=text/plain

المؤلفون: Voessing, Christine, Owczarek-Lipska, Marta, Nagel-Wolfrum, Kerstin, Reiff, Charlotte, Jueschke, Christoph, Neidhardt, John

المصدر: Voessing , C , Owczarek-Lipska , M , Nagel-Wolfrum , K , Reiff , C , Jueschke , C & Neidhardt , J 2020 , ' Translational Read-Through Therapy of RPGR Nonsense Mutations ' , International Journal of Molecular Sciences , vol. 21 , no. 22 , 8418 . https://doi.org/10.3390/ijms21228418

مصطلحات موضوعية: RPGR, transcriptional therapy, read-through therapy, cilia, cilium, treatment, stop mutation, nonsense mutation, Ataluren, PTC124, LINKED RETINITIS-PIGMENTOSA, SUPPRESSION, PROTEIN, RP2, ISOFORMS, LOCALIZATION, DYSTROPHY, INTERACTS, EFFICACY, DISEASES

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/2c653288-e680-408e-aaec-55f19adf9efd

الاتاحة: https://hdl.handle.net/11370/2c653288-e680-408e-aaec-55f19adf9efd
https://research.rug.nl/en/publications/2c653288-e680-408e-aaec-55f19adf9efd
https://doi.org/10.3390/ijms21228418
https://pure.rug.nl/ws/files/174212036/ijms_21_08418.pdf

المؤلفون: Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Müller-Hofstede, Cornelie, Charbel Issa, Peter, Heller, Raoul, Beck, Bodo, Rüther, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stöhr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Nagel-Wolfrum, Kerstin, Khan, Arif O., Bolz, Hanno J.

المساهمون: Forschung contra Blindheit, Initiative Usher-Syndrom e.V., GEERS-Stiftung

المصدر: Molecular Genetics & Genomic Medicine ; volume 5, issue 5, page 531-552 ; ISSN 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.312
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.312
http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.312/fullpdf

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

المصدر: Human Molecular Genetics ; page ddx027 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/ddx027
http://academic.oup.com/hmg/article-pdf/26/6/1157/11195240/ddx027.pdf

المؤلفون: Wiechers, Lisa, Samanta, Ananya, Nagel-Wolfrum, Kerstin

المصدر: Medizinische Genetik ; volume 29, issue 2, page 217-224 ; ISSN 1863-5490 0936-5931

الاتاحة: http://dx.doi.org/10.1007/s11825-017-0136-4
http://link.springer.com/article/10.1007/s11825-017-0136-4/fulltext.html
http://link.springer.com/content/pdf/10.1007/s11825-017-0136-4.pdf
https://www.degruyter.com/document/doi/10.1007/s11825-017-0136-4/xml
https://www.degruyter.com/document/doi/10.1007/s11825-017-0136-4/pdf

المؤلفون: Liu, Hanhan, Bell, Katharina, Herrmann, Anja, Arnhold, Stefan, Mercieca, Karl, Anders, Fabian, Nagel-Wolfrum, Kerstin, Thanos, Solon, Prokosch, Verena

مصطلحات موضوعية: ddc:no

Relation: Liu, Hanhan, Bell, Katharina, Herrmann, Anja, Arnhold, Stefan, Mercieca, Karl, Anders, Fabian, Nagel-Wolfrum, Kerstin, Thanos, Solon and Prokosch, Verena (2022). Crystallins Play a Crucial Role in Glaucoma and Promote Neuronal Cell Survival in an In Vitro Model Through Modulating Muller Cell Secretion. Invest. Ophthalmol. Vis. Sci., 63 (8). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

الاتاحة: https://kups.ub.uni-koeln.de/68670/

المؤلفون: Jansen, Fabian, Kalbe, Benjamin, Scholz, Paul, Mikosz, Marta, Wunderlich, Kirsten A., Kurtenbach, Stefan, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe, Hatt, Hanns, Osterloh, Sabrina

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/25/3/524; http://dx.doi.org/10.1093/hmg/ddv490

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/25/3/524
https://doi.org/10.1093/hmg/ddv490

المؤلفون: Dinculescu, Astra, Stupay, Rachel M., Deng, Wen-Tao, Dyka, Frank M., Min, Seok-Hong, Boye, Sanford L., Chiodo, Vince A., Abrahan, Carolina E., Zhu, Ping, Li, Qiuhong, Strettoi, Enrica, Novelli, Elena, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe, Smith, W. Clay, Hauswirth, William W.

المساهمون: Barnes, Steven

المصدر: PLOS ONE ; volume 11, issue 2, page e0148874 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0148874
http://dx.plos.org/10.1371/journal.pone.0148874

المؤلفون: Palfi, Arpad, Chadderton, Naomi, O'Reilly, Mary, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe, Bennett, Jean, Humphries, Peter, Kenna, Paul, Millington-Ward, Sophia, Farrar, Jane

المصدر: Molecular Therapy - Methods & Clinical Development ; volume 3, page 16032 ; ISSN 2329-0501

الاتاحة: http://dx.doi.org/10.1038/mtm.2016.32
https://api.elsevier.com/content/article/PII:S2329050116301759?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2329050116301759?httpAccept=text/plain

المؤلفون: Nagel-Wolfrum, Kerstin.

الاتاحة: http://publikationen.ub.uni-frankfurt.de/volltexte/2005/642/
http://deposit.d-nb.de/cgi-bin/dokserv?idn=974384275