Studying Ciliary Signaling in Development and Disease

Deliverables

ESR weblogs, podcasts, vlogs done

D4.2 ESR weblogs, podcasts, vlogs done

SCilS website

D51 SCilS webiste

Potential inputs for policy feedback

potential inputs for policy feedback (if applicable).Added to part B of Annex 1

Final Symposium

D5.2 Final Symposium

Publications

Biallelic KIF24 variants are responsible for a spectrum of skeletal disorders ranging from lethal skeletal ciliopathy to severe acromesomelic dysplasia

Author(s): ML Reilly, N ul Ain, M Muurinen, A Tata, C Huber, M Simon, T Ishaq, N Shaw, S Rusanen, M Pekkinen, W Högler, MFCM Knapen, M van den Born, S Saunier, S Naz, V Cormier-Daire, A Benmerah and O Makitie
Published in: Journal of Bone and Mineral Research, 2022, ISSN 1523-4681
Publisher: American Society for Bone and Mineral Research
DOI: 10.1002/jbmr.4639

Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4

Author(s): Meriem Garfa Traoré, Federica Roccio, Caterina Miceli, Giulia Ferri, Mélanie Parisot, Nicolas Cagnard, Marie Lhomme, Nicolas Dupont, Alexandre Benmerah, Sophie Saunier, Marion Delous
Published in: Front Mol Biosci, Issue volume 10, 2023, ISSN 2296-889X
Publisher: Frontiers Media S.A.
DOI: 10.3389/fmolb.2023.1254691

Primary cilia sense glutamine availability and respond via asparagine synthetase

Author(s): Maria Elena Steidl, Elisa A Nigro, Anne Kallehauge Nielsen, Roberto Pagliarini, Laura Cassina, Matteo Lampis, Christine Podrini, Marco Chiaravalli, Valeria Mannella, Gianfranco Distefano, Ming Yang, Mariam Aslanyan, Giovanna Musco, Ronald Roepman, Christian Frezza, Alessandra Boletta
Published in: Nature metabolism, Issue 2023 Mar 6, 2023, ISSN 2522-5812
Publisher: Springer Nature
DOI: 10.1038/s42255-023-00754-6

Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa

Author(s): Kae R. Whiting, Lonneke Haer-Wigman, Ralph J. Florijn, Ronald van Beek, Machteld M. Oud, Astrid S. Plomp, Camiel J. F. Boon, Hester Y. Kroes, Ronald Roepman
Published in: European Journal of Human Genetics, Issue 28 May 2024, 2024, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-024-01627-6

Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9

Author(s): Emma Dyke, Chantal Bijnagte-Schoenmaker, Ka Man Wu, Astrid Oudakker, Ronald Roepman, Nael Nadif Kasri
Published in: Stem cell Research, Issue volume 68, 103053, 2023, Page(s) 1-5, ISSN 1873-5061
Publisher: Elsevier
DOI: 10.1016/j.scr.2023.103053

Deciphering the impact of PROM1 alternative splicing on human photoreceptor development and maturation

Author(s): Marina Moya-Molina, Birthe Dorgau, Emily Flood, Stef J. F. Letteboer, Esben Lorentzen, Jonathan Coxhead, Graham Smith, Ronald Roepman, Sushma Nagaraja Grellscheid, Lyle Armstrong, Majlinda Lako
Published in: Cell Death & Disease, Issue 15, 2024, ISSN 2041-4889
Publisher: Nature Publishing Group
DOI: 10.1038/s41419-024-07105-7

Biochemically validated structural model of the 15-subunit intraflagellar transport complex IFT-B

Author(s): Narcis A Petriman, Marta Loureiro-López, Michael Taschner, Nevin K Zacharia, Magdalena M Georgieva, Niels Boegholm, Jiaolong Wang, André Mourão, Robert B Russell, Jens S Andersen, Esben Lorentzen
Published in: The EMBO Journal, Issue e112440, 2022, Page(s) 1-26, ISSN 0261-4189
Publisher: Nature Publishing Group
DOI: 10.15252/embj.2022112440

WeSA: a web server for improving analysis of affinity proteomics data

Author(s): Magdalena M Shtetinska, Juan-Carlos González-Sánchez, Tina Beyer, Karsten Boldt, Marius Ueffing, Robert B Russell
Published in: Nucleic Acids Research, Issue 52, 2024, Page(s) W333-W340, ISSN 0305-1048
Publisher: Oxford University Press
DOI: 10.1093/nar/gkae423

Interactome analysis reveals a link of the novel ALMS1-CEP70 complex to centrosomal clusters

Author(s): Franziska Woerz, Felix Hoffmann, Shibu Antony, Sylvia Bolz, Mohamed Ali Jarboui, Katrin Junger, Franziska Klose, Isabel F. Stehle, Karsten Boldt, Marius Ueffing, Tina Beyer
Published in: MCP, Issue 100701, 2023, ISSN 1535-9476
Publisher: American Society for Biochemistry and Molecular Biology Inc.
DOI: 10.1016/j.mcpro.2023.100701

DLG1 functions upstream of SDCCAG3 and IFT20 to control ciliary targeting of polycystin-2

Author(s): Csenge K Rezi, Mariam G Aslanyan, Gaurav D Diwan, Tao Cheng, Mohamed Chamlali, Katrin Junger, Zeinab Anvarian, Esben Lorentzen, Kleo B Pauly, Yasmin Afshar-Bahadori, Eduardo F A Fernandes, Feng Qian, Sébastien Tosi, Søren T Christensen, Stine F Pedersen, Kristian Strømgaard, Robert B Russell, Jeffrey H Miner, Moe R Mahjoub, Karsten Boldt, Ronald Roepman, Lotte B Pedersen
Published in: EMBO reports, Issue 7 June 2024, 2024, ISSN 1469-221X
Publisher: Nature Publishing Group
DOI: 10.1038/s44319-024-00170-1

ZebraReg—a novel platform for discovering regulators of cardiac regeneration using zebrafish

Author(s): Kateřina Apolínová, Ferran Arqué Pérez, Sylvia Dyballa, Benedetta Coppe, Nadia Mercader Huber, Javier Terriente, Vincenzo Di Donato
Published in: Frontiers in Cell and Developmental Biology, Issue 12, 2024, ISSN 2296-634X
Publisher: Frontiers Media S.A.
DOI: 10.3389/fcell.2024.1384423

Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients

Author(s): Daniel A. Baird, Hira Mubeen, Canan Doganli, Jasmijn B. Miltenburg, Oskar Kaaber Thomsen, Zafar Ali, Tahir Naveed, Asif ur Rehman, Shahid Mahmood Baig, Søren Tvorup Christensen, Muhammad Farooq, Lars Allan Larsen
Published in: 2023
Publisher: Cold Spring Harbor Laboratory
DOI: 10.1101/2023.08.25.23294614

Intellectual Property Rights

USE OF INHIBITORS OF THE HIPPO SIGNALLING PATHWAY FOR THE TREATMENT OF CHRONIC NEPHROPATHIES

Application/Publication number: 20 23077250
Date: 2023-10-02
Applicant(s): IMAGINE INSTITUT DES MALADIES GENETIQUES NECKER ENFANTS MALADES FONDATION

Deliverables

Publications

Intellectual Property Rights

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