Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma

Authors: Bruna Calsina, Elena Piñeiro-Yáñez, Ángel M. Martínez-Montes, Eduardo Caleiras, Ángel Fernández-Sanromán, María Monteagudo, Rafael Torres-Pérez, Coral Fustero-Torre, Marta Pulgarín-Alfaro, Eduardo Gil, Rocío Letón, Scherezade Jiménez, Santiago García-Martín, Maria Carmen Martin, Juan María Roldán-Romero, Javier Lanillos, Sara Mellid, María Santos, Alberto Díaz-Talavera, Ángeles Rubio, Patricia González, Barbara Hernando, Nicole Bechmann, Margo Dona, María Calatayud, Sonsoles Guadalix, Cristina Álvarez-Escolá, Rita M. Regojo, Javier Aller, Maria Isabel Del Olmo-Garcia, Adrià López-Fernández, Stephanie M. J. Fliedner, Elena Rapizzi, Martin Fassnacht, Felix Beuschlein, Marcus Quinkler, Rodrigo A. Toledo, Massimo Mannelli, Henri J. Timmers, Graeme Eisenhofer, Sandra Rodríguez-Perales, Orlando Domínguez, Geoffrey Macintyre, Maria Currás-Freixes, Cristina Rodríguez-Antona, Alberto Cascón, Luis J. Leandro-García, Cristina Montero-Conde, Giovanna Roncador, Juan Fernando García-García, Karel Pacak, Fátima Al-Shahrour, Mercedes Robledo

Source: Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/69b48437dc7349d2ae46afb0ace70885

Succinate Mediates Tumorigenic Effects via Succinate Receptor 1: Potential for New Targeted Treatment Strategies in Succinate Dehydrogenase Deficient Paragangliomas

Authors: Dieter M. Matlac, Katerina Hadrava Vanova, Nicole Bechmann, Susan Richter, Julica Folberth, Hans K. Ghayee, Guang-Bo Ge, Luma Abunimer, Robert Wesley, Redouane Aherrahrou, Margo Dona, Ángel M. Martínez-Montes, Bruna Calsina, Maria J. Merino, Markus Schwaninger, Peter M. T. Deen, Zhengping Zhuang, Jiri Neuzil, Karel Pacak, Hendrik Lehnert, Stephanie M. J. Fliedner

Source: Frontiers in Endocrinology, Vol 12 (2021)

Subject Terms: succinate receptor 1, SUCNR1 (GPR91), paraganglioma, succinate, SDHB gene, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2021.589451/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/341f1888ed96433699e71d363cd1e7e4

Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafish.

Authors: Muriël Messchaert, Margo Dona, Sanne Broekman, Theo A Peters, Julio C Corral-Serrano, Ralph W N Slijkerman, Erwin van Wijk, Rob W J Collin

Source: PLoS ONE, Vol 13, Iss 7, p e0200789 (2018)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0200789&type=printable; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/0d19b46657b94f33aa2ca97841973e82

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Authors: Radulfus WN Slijkerman, Christel Vaché, Margo Dona, Gema García-García, Mireille Claustres, Lisette Hetterschijt, Theo A Peters, Bas P Hartel, Ronald JE Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob WJ Collin, Hannie Kremer, Anne-Françoise Roux, Erwin Van Wijk

Source: Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)

Subject Terms: antisense oligonucleotides, genetic therapy, splice redirection, USH2A, Usher syndrome, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253117301087; https://doaj.org/toc/2162-2531

Access URL: https://doaj.org/article/630403874b684cdf82cd8b7633db40fd

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

Authors: Ruxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, Edith Tonnaer, Theo Peters, Erik de Vrieze, Dorus A Mans, Sylvia E C van Beersum, Ian G Phelps, Heleen H Arts, Jan E Keunen, Marius Ueffing, Ronald Roepman, Karsten Boldt, Dan Doherty, Cecilia B Moens, Stephan C F Neuhauss, Hannie Kremer, Erwin van Wijk

Source: PLoS Genetics, Vol 11, Iss 10, p e1005575 (2015)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4617701?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/08a6b296c08e4098b69576d26dadd7af

NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish.

Authors: Margo Dona, Ruxandra Bachmann-Gagescu, Yves Texier, Grischa Toedt, Lisette Hetterschijt, Edith L Tonnaer, Theo A Peters, Sylvia E C van Beersum, Judith G M Bergboer, Nicola Horn, Erik de Vrieze, Ralph W N Slijkerman, Jeroen van Reeuwijk, Gert Flik, Jan E Keunen, Marius Ueffing, Toby J Gibson, Ronald Roepman, Karsten Boldt, Hannie Kremer, Erwin van Wijk

Source: PLoS Genetics, Vol 11, Iss 10, p e1005574 (2015)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4617706?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/b9f497670fd94428a52335717ffcab65