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CORDIS - Resultados de investigaciones de la UE
CORDIS

European Training Network to Diagnose, Understand and Treat Stargardt Disease, a Frequent Inherited Blinding Disorder

CORDIS proporciona enlaces a los documentos públicos y las publicaciones de los proyectos de los programas marco HORIZONTE.

Los enlaces a los documentos y las publicaciones de los proyectos del Séptimo Programa Marco, así como los enlaces a algunos tipos de resultados específicos, como conjuntos de datos y «software», se obtienen dinámicamente de OpenAIRE .

Resultado final

Potential inputs for policy feedback (se abrirá en una nueva ventana)

Consortium should include any relevant information, results, activities who could contribute to any policy development in their domain. This information could then be used for policy feedback purposes.

National fundraising events organised (se abrirá en una nueva ventana)

Aim is to organize 7 national fundraising events

International Conference (se abrirá en una nueva ventana)

In an international conference, we will invite four renowned speakers covering IRD Genomics, Mechanisms of Disease, Models of Disease and Therapeutics areas. The ESR fellows will present their PhD studies and top speakers from the Beneficiaries and POs will be invited. In addition, we will invite representatives of the national patientorganisations to discuss our progress in the fundraising events. Very importantly, one day will be reserved for patients and their family members. ESR fellows and their supervisors will provide oral presentations for this audience on IRD genetics, mechanisms and models of disease and therapeutics.

ESR weblogs, podcasts, vlogs (se abrirá en una nueva ventana)

ESR weblogs, podcasts, vlogs done

Pilot fundraising event organised (se abrirá en una nueva ventana)

Publicaciones

Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4. (se abrirá en una nueva ventana)

Autores: Nuria Suárez-Herrera, Iris B. Riswick, Irene Vázquez-Domínguez, Lonneke Duijkers, Dyah W. Karjosukarso, Davide Piccolo, Miriam Bauwens, Elfride De Baere, Michael E. Cheetham, Alejandro Garanto, and Rob W.J. Collin.
Publicado en: Molecular Therapy, Edición vol. 32, no. 3, 2024, ISSN 1525-0016
Editor: Nature Publishing Group
DOI: 10.1016/j.ymthe.2024.01.019

Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 Locus (se abrirá en una nueva ventana)

Autores: Benjamin McClinton, Christopher M Watson, Laura A Crinnion, Martin McKibbin, Manir Ali, Chris F Inglehearn, Carmel Toomes
Publicado en: Lab Invest, Edición 103(8):100160, 2023, ISSN 0023-6837
Editor: Nature Publishing Group
DOI: 10.1016/j.labinv.2023.100160

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function (se abrirá en una nueva ventana)

Autores: Melita Kaltak; Rocio Blanco-Garavito; Laurie L. Molday; Claire-Marie Dhaenens; Eric E. Souied; Gerard Platenburg; Jim Swildens; Robert S. Molday; Frans P. M. Cremers
Publicado en: Journal of Translational Medicine, Edición 21, 2023, Página(s) 546, ISSN 1479-5876
Editor: BioMed Central
DOI: 10.1186/s12967-023-04406-x

Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches (se abrirá en una nueva ventana)

Autores: Pietro De Angeli, Peggy Reuter, Stefan Hauser, Ludger Schöls, Katarina Sting, Bernd Wissinger, Susanne Kohl
Publicado en: Molecular Therapy. Nucleic acids, Edición Volume 29, 2022, Página(s) 511-524, ISSN 2162-2531
Editor: Nature Publishing Group
DOI: 10.1016/j.omtn.2022.07.023

AAV-mediated gene therapy improving mitochondrial function provides benefit in age-related macular degeneration models (se abrirá en una nueva ventana)

Autores: Sophia Millington-Ward, Naomi Chadderton, Laura K Finnegan, Iris J M Post, Matthew Carrigan, Tom Gardiner, Elisa Peixoto, Daniel Maloney, Marian M Humphries, Alan Stitt, Thierry Léveillard, Pete Humphries, Paul F Kenna, Arpad Palfi, G Jane Farrar
Publicado en: Clinical and Translational Medicine, Edición 12:e952, 2022, Página(s) 1-7, ISSN 2001-1326
Editor: Wiley
DOI: 10.1002/ctm2.952

Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies (se abrirá en una nueva ventana)

Autores: Benjamin McClinton, Laura A. Crinnion, Martin McKibbin, Rajarshi Mukherjee, James A. Poulter, Claire E. L. Smith, Manir Ali, Christopher M. Watson, Chris F. Inglehearn, Carmel Toomes
Publicado en: Molecular Genetics & Genomic Medicine, Edición e2164, 2023, ISSN 2324-9269
Editor: John Wiley & Sons
DOI: 10.1002/mgg3.2164

Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A (se abrirá en una nueva ventana)

Autores: Nuria Suárez-Herrera; Nico Leijsten; Silvia Albert; Nathalie M. Bax; Carel B. Hoyng; Frans P.M. Cremers; Alejandro Garanto; Rob W.J. Collin
Publicado en: Stem Cell Research, Edición 73 (2023) 103252, 2023, ISSN 1873-5061
Editor: Elsevier
DOI: 10.1016/j.scr.2023.103252

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease (se abrirá en una nueva ventana)

Autores: Mubeen Khan, Gavin Arno, Ana Fakin, David A. Parfitt, Patty P.A. Dhooge, Silvia Albert, Nathalie M. Bax, Lonneke Duijkers, Michael Niblock, Kwan L. Hau, Edward Bloch, Elena R. Schiff, Davide Piccolo, Michael C. Hogden, Carel B. Hoyng, Andrew R. Webster, Frans P.M. Cremers, Michael E. Cheetham, Alejandro Garanto, Rob W.J. Collin
Publicado en: Molecular Therapy - Nucleic Acids, Edición 21, 2020, Página(s) 412-427, ISSN 2162-2531
Editor: Nature Publishing Group
DOI: 10.1016/j.omtn.2020.06.007

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK (se abrirá en una nueva ventana)

Autores: Benjamin Mc Clinton, Zelia Corradi, Martin McKibbin, Daan M. Panneman, Susanne Roosing, Erica G. M. Boonen, Manir Ali, Christopher M. Watson, David H. Steel, Frans P. M. Cremers, Chris F. Inglehearn, Rebekkah J. Hitti-Malin and Carmel Toomes
Publicado en: Genes, Edición 14(1), 191, 2023, Página(s) 1-14, ISSN 2073-4425
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes14010191

AAV-PHP.eB transduces both the inner and outer retina with high efficacy in mice (se abrirá en una nueva ventana)

Autores: Arpad Palfi, Naomi Chadderton, Sophia Millington-Ward, Iris Post, Pete Humphries, Paul F. Kenna, G. Jane Farrar
Publicado en: Molecular Therapy. Methods & Clinical Development, Edición Volume 25, 2022, Página(s) 236-249, ISSN 2329-0501
Editor: Cell Press
DOI: 10.1016/j.omtm.2022.03.016

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease (se abrirá en una nueva ventana)

Autores: Zelia Corradi; Manar Salameh; Mubeen Khan; Elise Héon; Ketan Mishra; Rebekkah J. Hitti-Malin; Yahya AlSwaiti; Alice Aslanian; Eyal Banin; Brian P. Brooks; Wadih M. Zein; Robert B. Hufnagel; Susanne Roosing; Claire‐Marie Dhaenens; Dror Sharon; Frans P. M. Cremers; Alaa AlTalbishi
Publicado en: Investigative ophthalmology and visual science, Edición vol.63, 20, 2022, ISSN 0146-0404
Editor: Association for Research in Vision and Ophthalmology
DOI: 10.1167/iovs.63.4.20

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease (se abrirá en una nueva ventana)

Autores: Alfredo Dueñas Rey, Marta Del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova; Genomics England Research Consortium; Carlo Rivolta, Raymond T O'Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso,
Publicado en: Genome Medicine, Edición 16:7, 2024, ISSN 1756-994X
Editor: BioMed Central
DOI: 10.1186/s13073-023-01277-1

Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data (se abrirá en una nueva ventana)

Autores: Karla Alejandra Ruiz-Ceja; Dalila Capasso; Michele Pinelli; Eugenio Del Prete; Diego Carrella; Diego di Bernardo; Sandro Banfi
Publicado en: BMC genomics, Edición 24(1):206, 2023, ISSN 1471-2164
Editor: BioMed Central
DOI: 10.1186/s12864-023-09300-w

Retinal organoids provide unique insights into molecular signatures of inherited retinal disease throughout retinogenesis (se abrirá en una nueva ventana)

Autores: Avril Watson; Majlinda Lako
Publicado en: Journal of Anatomy, Edición 2022 Sep 29, 2022, Página(s) 1-18, ISSN 0021-8782
Editor: Blackwell Publishing Inc.
DOI: 10.1111/joa.13768

Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4 (se abrirá en una nueva ventana)

Autores: Tomasz Z. Tomkiewicz,Nuria Suárez-Herrera,Frans P. M. Cremers, Rob W. J. Collin and Alejandro Garanto
Publicado en: International Journal of Molecular Sciences, Edición 22(9):4621, 2021, Página(s) 1-17, ISSN 1422-0067
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms22094621

Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity (se abrirá en una nueva ventana)

Autores: Stéphanie S. Cornelis, Esmee H. Runhart, Miriam Bauwens, Zelia Corradi, Elfride De Baere, Susanne Roosing, Lonneke Haer-Wigman, Claire-Marie Dhaenens, Anneke T. Vulto-van Silfhout, Frans P.M. Cremers
Publicado en: American Journal of Human Genetics, Edición Volume 109, issue 3, 2022, Página(s) 498-507, ISSN 0002-9297
Editor: University of Chicago Press
DOI: 10.1016/j.ajhg.2022.01.008

Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci (se abrirá en una nueva ventana)

Autores: Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee; Genomics England Research Consortium; Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfride De Baere
Publicado en: Nature Communications, Edición 15(1):1600, 2024, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-024-45381-1

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients (se abrirá en una nueva ventana)

Autores: Laura Whelan, Adrian Dockery, Kirk A J Stephenson, Julia Zhu, Ella Kopčić, Iris J M Post, Mubeen Khan, Zelia Corradi, Niamh Wynne, James J O' Byrne, Emma Duignan, Giuliana Silvestri, Susanne Roosing, Frans P M Cremers, David J Keegan, Paul F Kenna, G Jane Farrar
Publicado en: Scientific Reports, Edición 13(1):9380, 2023, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/s41598-023-35889-9

ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage. (se abrirá en una nueva ventana)

Autores: Jana Sajovic, Andrej Meglic, Zelia Corradi, Mubeen Khan, Aleš Maver, Martina Jarc Vidmar, Marko Hawlina, Frans P. M. Cremers, and Ana Fakin
Publicado en: Investigative Ophthalmology & Visual Science, Edición vol. 64 | no. 12 | article 33, 2023, ISSN 0146-0404
Editor: Association for Research in Vision and Ophthalmology
DOI: 10.1167/iovs.64.12.33

Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants (se abrirá en una nueva ventana)

Autores: Pietro De Angeli, Arturo Flores-Tufiño, Katarina Stingl, Laura Kühlewein, Eleonora Roschi, Bernd Wissinger, Susanne Kohl
Publicado en: Molecular Therapy Nucleic Acids, Edición 35(1)102113, 2023, ISSN 2162-2531
Editor: Nature Publishing Group
DOI: 10.1016/j.omtn.2023.102113

RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models (se abrirá en una nueva ventana)

Autores: Sophia Millington-Ward, Naomi Chadderton, Laura K. Finnegan, Iris J. M. Post, Matthew Carrigan, Rachel Nixon, Marian M. Humphries, Pete Humphries, Paul F. Kenna, Arpad Palfi and G. Jane Farrar
Publicado en: International Journal of Molecular Sciences, Edición 24, 3847, 2023, Página(s) 1-14, ISSN 1422-0067
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms24043847

Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253+43G>A Underlying Stargardt Disease (se abrirá en una nueva ventana)

Autores: Nuria Suárez-Herrera, Alejandro Garanto, Rob W J Collin
Publicado en: Nucleic Acid Therapeutics, Edición vol. 34, No. 2, 2024, ISSN 2159-3337
Editor: Mary Ann Liebert Inc.
DOI: 10.1089/nat.2023.0076

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability (se abrirá en una nueva ventana)

Autores: Zelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, Ketan Mishra, Laura Whelan, Stephanie S. Cornelis, ABCA4-Study Group, Carel B. Hoyng, Kati Kampjarvi, Caroline C.W. Klaver, Petra Liskova, Heidi Stohr, Bernhard H.F. Weber, Sandro Banfi, G. Jane Farrar, Dror Sharon, Jana Zernant, Rando Allikmets, Claire-Marie Dhaenens, and Frans P.M. Cremers
Publicado en: HGG advances, Edición 4, 100237, 2023, ISSN 2666-2477
Editor: Elsevier Inc
DOI: 10.1016/j.xhgg.2023.100237

Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C (se abrirá en una nueva ventana)

Autores: Melita Kaltak, Petra de Bruijn, Davide Piccolo, Sang-Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, Andrew R. Webster, Rob W.J. Collin, Michael E. Cheetham, Gerard Platenburg, Jim Swildens
Publicado en: Molecular Therapy Nucleic Acids, Edición 31, 2023, Página(s) 674-688, ISSN 2162-2531
Editor: Nature Publishing Group
DOI: 10.1016/j.omtn.2023.02.020

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement (se abrirá en una nueva ventana)

Autores: Sabrina Mechaussier, Basamat Almoallem, Christina Zeitz, Kristof Van Schil, Laila Jeddawi, Jo Van Dorpe, Alfredo Dueñas Rey, Christel Condroyer, Olivier Pelle, Michel Polak, Nathalie Boddaert, Nadia Bahi-Buisson, Mara Cavallin, Jean-Louis Bacquet, Alexandra Mouallem-Bézière, Olivia Zambrowski, José Alain Sahel, Isabelle Audo, Josseline Kaplan, Jean-Michel Rozet, Elfride De Baere, Isabelle Perr
Publicado en: The American Journal of Human Genetics, Edición 106/6, 2020, Página(s) 859-871, ISSN 0002-9297
Editor: University of Chicago Press
DOI: 10.1016/j.ajhg.2020.04.018

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics (se abrirá en una nueva ventana)

Autores: Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo-Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere, Sandro Banfi, Eyal Banin, Miriam Bauwens, Tamar Ben-Yosef, Camiel J. F. Boon, L. Ingeborgh van den Born, Sabine Defoort, Aurore Devos, Adrian Dockery, Lubica Dudakova, Ana Fakin, G. Jane Farrar, Juliana Maria Ferraz Sallum, Kaoru
Publicado en: Genetics in Medicine, 2020, ISSN 1098-3600
Editor: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-020-0787-4

QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease (se abrirá en una nueva ventana)

Autores: Kaltak, M.; de Bruijn, Petra; van Leeuwen, Willemijn; Platenburg, G.; Cremers, F.P.M.; Collin, R.W.J.; Swildens, J.
Publicado en: Scientific Reports, Edición 14:684, 2024, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/s41598-024-51203-7

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss (se abrirá en una nueva ventana)

Autores: Giulia Ascari, Nanna D Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Mattias Van Heetvelde, Gavin Arno, Julie Jacob, David Creytens, Jo Van Dorpe, Thalia Van Laethem, Toon Rosseel, Tim De Pooter, Peter De Rijk, Wouter De Coster, Björn Menten, Alfredo Dueñas Rey, Mojca Strazisar, Mette Bertelsen, Lisbeth Tranebjaerg, Elfride De Baere
Publicado en: Front Cell Dev Biol, Edición Volume 9, 2021, Página(s) 664317, ISSN 2296-634X
Editor: Frontiers Media
DOI: 10.3389/fcell.2021.664317

Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing. (se abrirá en una nueva ventana)

Autores: Melita Kaltak, Zelia Corradi, Rob W J Collin, Jim Swildens, Frans P M Cremers
Publicado en: Human Molecular Genetics, Edición 32 (21), 2023, Página(s) 3078-3089, ISSN 0964-6906
Editor: Oxford University Press
DOI: 10.1093/hmg/ddad129

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis. (se abrirá en una nueva ventana)

Autores: Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Dueñas Rey A, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf JC, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ
Publicado en: The Journal of Clinical Investigation, Edición e161156, 2023, ISSN 0021-9738
Editor: American Society for Clinical Investigation
DOI: 10.1172/jci161156

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy (se abrirá en una nueva ventana)

Autores: Stijn Van de Sompele, Kent W Small, Munevver Burcu Cicekdal, Víctor López Soriano, Eva D'haene, Fadi S Shaya, Steven Agemy, Thijs Van der Snickt, Alfredo Dueñas Rey, Toon Rosseel, Mattias Van Heetvelde, Sarah Vergult, Irina Balikova, Arthur A Bergen, Camiel J F Boon, Julie De Zaeytijd, Chris F Inglehearn, Bohdan Kousal, Bart P Leroy, Carlo Rivolta, Veronika Vaclavik, Jenneke van den Ende, Mary
Publicado en: American Journal of Human Genetics, Edición Volume 109, issue 11, 2022, Página(s) 2029-2048, ISSN 0002-9297
Editor: University of Chicago Press
DOI: 10.1016/j.ajhg.2022.09.013

Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform (se abrirá en una nueva ventana)

Autores: Marta Del Pozo-Valero, Basamat Almoallem, Alfredo Dueñas Rey, Quinten Mahieu, Mattias Van Heetvelde, Laila Jeddawi, Miriam Bauwens, Elfride De Baere
Publicado en: Clinical Genetics, Edición 2024 Mar 11, 2024, ISSN 0009-9163
Editor: Blackwell Publishing Inc.
DOI: 10.1111/cge.14517

Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci (se abrirá en una nueva ventana)

Autores: Eva D’haene, Victor López Soriano, Pedro Manuel Martínez-García, Soraya Kalayanamontri, Alfredo Dueñas Rey, Ana Sousa-Ortega, Silvia Naranjo, Stijn Van de Sompele, Lies Vantomme, Quinten Mahieu, Sarah Vergult, Ana Bastos Neto, José Luis Gómez-Skarmeta, Juan R. Martínez-Morales, Miriam Bauwens, Juan J. Tena, Elfride De Baere
Publicado en: bioRxiv, 2023
Editor: cold spring harbor laboratory
DOI: 10.1101/2023.06.20.543842

Development and Use of Cellular Systems to Assess and Correct Splicing Defects (se abrirá en una nueva ventana)

Autores: Nuria Suárez-Herrera, Tomasz Z Tomkiewicz, Alejandro Garanto, Rob W J Collin
Publicado en: Methods in Molecular Biology, Edición MIMB, volume 2434, 2022, Página(s) 145-165, ISBN 978-1-0716-2010-6
Editor: Humana Press
DOI: 10.1007/978-1-0716-2010-6_9

Derechos de propiedad intelectual

System and method for editing genomic DNA to modulate splicing

Número de solicitud/publicación: PCT/ EP2023/052609
Fecha: 2023-02-08
Solicitante(s): EBERHARD KARLS UNIVERSITAET TUEBINGEN

ANTISENSE OLIGONUCLEOTIDES FOR THE TREATMENT OF STARGARDT DISEASE

Número de solicitud/publicación: 20 21079723
Fecha: 2021-10-26
Solicitante(s): PROQR THERAPEUTICS NV

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