ArticlemedRxiv : the preprint server for health sciences2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
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Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1citing papers in PubMed
–field-weighted citation impact
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Decoding retinitis pigmentosa: molecular targets and therapy with focus on pre-mRNA splicing.Cellular and molecular life sciences : CMLS · 2025Review
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Authors and funding
170 authors.
Mathieu QuinodozOphthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.ORCID 0000-0002-9841-4433
Kim RodenburgDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0003-0389-1518
Zuzana CvackovaLaboratory of RNA Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.ORCID 0000-0002-7430-2728
Karolina KaminskaOphthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.ORCID 0000-0002-4720-5527
Suzanne E de BruijnDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0003-2912-9265
Ana Belén Iglesias-RomeroOphthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.ORCID 0000-0003-0044-179X
Erica G M BoonenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0003-1509-3150
Mukhtar UllahOphthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.ORCID 0000-0003-0911-0831
Nick ZomerDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0009-0003-0181-3900
Marc FolcherOphthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.ORCID 0000-0002-3544-0554
Jacques BijonVitreous Retina Macula Consultants of New York, New York, NY, USA.ORCID 0000-0002-1679-5026
Lara K HoltesDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0009-0000-6337-4403
Stephen H TsangDepartments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, Vagelos College of Physicians and Surgeons Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0002-3529-0066
Zelia CorradiDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0002-2934-497X
K Bailey FreundVitreous Retina Macula Consultants of New York, New York, NY, USA.ORCID 0000-0002-7888-9773
Stefanida ShliagaDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0009-0004-4459-694X
Daan M PannemanDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0002-4384-505X
Rebekkah J Hitti-MalinDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0002-7873-2880
Manir AliUniversity of Leeds, Leeds, UK.ORCID 0000-0003-3204-3788
Ala'a AlTalbishiMolecular Biology Research Unit, St John Eye Hospital Group, Jerusalem, Palestine.ORCID 0000-0002-9879-8828
Sten AndréassonDepartment of Ophthalmology, University Hospital of Lund, Lund, Sweden.ORCID 0000-0003-2264-3421
Georg AnsariDepartment of Ophthalmology, University of Basel, Basel, Switzerland.ORCID 0009-0008-4693-2061
Gavin ArnoJC Self Research Institute, Greenwood Genetic Center, Greenwood, SC, USA.ORCID 0000-0002-6165-7888
Galuh D N AstutiDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0002-1524-0619
Carmen AyusoDepartment of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.ORCID 0000-0002-9242-7065
Radha AyyagariDepartment of Ophthalmology, Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0002-6804-7740
Sandro BanfiDepartment of Precision Medicine, Medical Genetics, University of Campania "Luigi Vanvitelli", Naples, Italy.ORCID 0000-0002-6541-8833
Eyal BaninHadassah Medical Center, Division of Ophthalmology, The Hebrew University of Jerusalem, Jerusalem, Israel.ORCID 0000-0002-6271-7811
Mirella T S BarboniDepartment of Ophthalmology, Semmelweis University, Budapest, Hungary.ORCID 0000-0002-0717-1852
Miriam BauwensCenter for Medical Genetics, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium.ORCID 0000-0003-0402-9006
Tamar Ben-YosefRappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.ORCID 0000-0003-3035-4654
David G BirchRetina Foundation of the Southwest, Dallas, TX, USA.ORCID 0000-0002-6594-2897
Pooja BiswasDepartment of Ophthalmology, Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA.
Fiona Blanco-KellyDepartment of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.ORCID 0000-0003-0052-5651
Beatrice BocquetInstitute for Neurosciences of Montpellier (INM), Montpellier University, Inserm, Montpellier, France.ORCID 0000-0002-6369-4818
Camiel J F BoonDepartment of Ophthalmology, Leiden University Medical Center (LUMC), Leiden, The Netherlands.ORCID 0000-0002-4625-6795
Kari BranhamDepartment of Ophthalmology and Human Genetics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-2492-254X
Alexis Ceecee Britten-JonesDepartment of Optometry and Vision Sciences, Department of Surgery (Ophthalmology), The University of Melbourne, Melbourne, Victoria, Australia.ORCID 0000-0002-1101-2870
Kinga M BujakowskaOcular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-6809-9818
Elizabeth L CadenaDepartment of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.ORCID 0000-0003-0348-1172
Giacomo CalzettiVista Vision Eye Clinic, Brescia, Italy.ORCID 0000-0003-1391-9510
Francesca CancellieriOphthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.ORCID 0000-0001-8476-5366
Luca CattaneoNeurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.
Peter Charbel IssaDepartment of Ophthalmology, TUM University Hospital, School of Medicine and Health, Technical University of Munich, Munich, Germany.ORCID 0000-0002-0351-6673
Naomi ChaddertonInstitute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, The University of Dublin, Dublin 2, Ireland.ORCID 0000-0002-1684-1598
Luísa Coutinho-SantosServiço de Oftalmologia, Instituto de Oftalmologia Dr. Gama Pinto, Lisboa, Portugal.ORCID 0000-0002-6181-4505
Stephen P DaigerDepartment of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.ORCID 0000-0002-3748-1827
Elfride De BaereCenter for Medical Genetics, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium.ORCID 0000-0002-5609-6895
Berta de la CerdaDepartment of Cell Therapy and Regenerative Medicine, Andalusian Molecular Biology and Regenerative Medicine Centre, CABIMER, Seville, Spain.ORCID 0000-0001-5603-6473
John N De RoachAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.ORCID 0000-0002-2682-5380
Julie De ZaeytijdDepartment of Head and Skin, Ghent University Hospital, Ghent, Belgium.ORCID 0000-0003-4035-6389
Ronny DerksDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0002-0644-4134
Claire-Marie DhaenensUniversité de Lille, INSERM U1172 - LilNCog - Lille Neuroscience & Cognition, Lille, France.ORCID 0000-0003-4719-4124
Lubica DudakovaDepartment of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.ORCID 0000-0003-4718-8955
Jacque L DuncanDepartment of Ophthalmology, University of California, San Francisco, Wayne and Gladys Valley Center for Vision, San Francisco, CA, USA.ORCID 0000-0002-9593-6412
G Jane FarrarInstitute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, The University of Dublin, Dublin 2, Ireland.ORCID 0000-0002-9959-1992
Nicolas FeltgenDepartment of Ophthalmology, University of Basel, Basel, Switzerland.ORCID 0000-0002-6857-3003
Lidia Fernández-CaballeroDepartment of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.ORCID 0000-0002-1048-9095
Juliana M Ferraz SallumDepartment of Ophthalmology, Federal University of São Paulo, UNIFESP, São Paulo, SP, Brazil.ORCID 0000-0002-7206-4447
Simone GanaNeurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.ORCID 0000-0001-6544-7135
Alejandro GarantoDepartment of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0001-5721-1560
Jessica C GardnerUCL Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0002-7053-0707
Christian GilissenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0003-1693-9699
Kensuke GotoDepartment of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.ORCID 0000-0001-5007-9384
Roser Gonzàlez-DuarteDepartment of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, Barcelona, Spain.ORCID 0000-0003-0093-923X
Sam Griffiths-JonesSchool of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK.ORCID 0000-0001-6043-807X
Tobias B HaackInstitute for Medical Genetics and Applied Genomics, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany.ORCID 0000-0001-6033-4836
Lonneke Haer-WigmanDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0003-3595-0797
Alison J HardcastleUCL Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0002-0038-6770
Takaaki HayashiDepartment of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Tokyo, Japan.ORCID 0000-0002-1535-0279
Elise HéonDepartment of Ophthalmology and Vision Sciences, Ocular Genetics Program, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID 0000-0003-4143-9311
Alexander HoischenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0002-8072-4476
Josephine P HoltanDepartment of Ophthalmology, Oslo University Hospital, Oslo, Norway.ORCID 0000-0001-7731-0750
Carel B HoyngDepartment of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0002-1358-5963
Manuel Benjamin B IbanezDepartment of Ophthalmology, Section of Pediatric Ophthalmology, Strabismus, and Ocular Genetics, DOH Eye Center, East Avenue Medical Center, Quezon City, Metro Manila, Philippines.ORCID 0000-0002-2030-3477
Chris F InglehearnDivision of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.ORCID 0000-0002-5143-2562
Takeshi IwataDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Meguro-ku, Tokyo, Japan.ORCID 0000-0003-1447-0081
Kaylie JonesRetina Foundation of the Southwest, Dallas, TX, USA.ORCID 0000-0003-2818-5097
Vasiliki KalatzisInstitute for Neurosciences of Montpellier (INM), Montpellier University, Inserm, Montpellier, France.ORCID 0000-0002-9626-8807
Smaragda KamakariDepartment of Inherited Retinal Dystrophies, Ophthalmic Genetics group, OMMA, Ophthalmological Institute of Athens, Athens, Greece.ORCID 0000-0003-4723-5213
Marianthi KaraliDepartment of Precision Medicine, Medical Genetics, University of Campania "Luigi Vanvitelli", Naples, Italy.ORCID 0000-0003-0757-3330
Ulrich KellnerCenter for Rare Retinal Diseases, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany.ORCID 0000-0001-5221-4631
Krisztina KnézyDepartment of Ophthalmology, Semmelweis University, Budapest, Hungary.
Caroline C W KlaverDepartment of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0002-2355-5258
Robert K KoenekoopDepartment of Pediatric Surgery, Division of Pediatric Ophthalmology, Montreal Children's Hospital, McGill University Health Center (MUHC), Montreal, Quebec, Canada.ORCID 0000-0001-6697-0411
Susanne KohlCentre for Ophthalmology, University Eye Hospital, University Hospital Tübingen, Tübingen, Germany.ORCID 0000-0002-6438-6331
Taro KominamiDepartment of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.ORCID 0009-0000-0612-2576
Laura KühleweinCentre for Ophthalmology, University Eye Hospital, University Hospital Tübingen, Tübingen, Germany.ORCID 0000-0003-1906-8681
Tina M LameyAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.ORCID 0000-0002-4608-4073
Bart P LeroyCenter for Medical Genetics, Department of Biomolecular Medicine, Ghent, Belgium.ORCID 0000-0002-9899-2081
María Pilar Martín-GutiérrezDepartment of Ophthalmology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.
Nelson MartinsCenter for Medical Genetics, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium.ORCID 0009-0003-1801-7142
Laura MauringDepartment of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.ORCID 0000-0002-1492-0356
Rina LeibuDepartment of Ophthalmology, Rambam Health Care Campus, Haifa, Israel.
Siying LinManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK.ORCID 0000-0003-1122-8396
Petra LiskovaDepartment of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.ORCID 0000-0001-7834-8486
Irma LopezDepartment of Pediatric Surgery, Division of Pediatric Ophthalmology, Montreal Children's Hospital, McGill University Health Center (MUHC), Montreal, Quebec, Canada.
Victor R de J López-RodríguezDepartment of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.ORCID 0009-0000-3770-9783
Omar A MahrooUCL Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0003-1254-0832
Gaël ManesINSERM U1298, Montpellier University, Institute for Neurosciences of Montpellier, Montpellier, France.ORCID 0000-0003-1871-0636
Martin McKibbinDivision of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.ORCID 0000-0003-4388-243X
Terri L McLarenAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.ORCID 0000-0003-3195-669X
Isabelle MeunierInstitute for Neurosciences of Montpellier (INM), Montpellier University, Inserm, Montpellier, France.
Michel MichaelidesUCL Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0002-1552-7046
José M MillánInstituto de Investigación Sanitaria La Fe (IIS La Fe) and CIBERER, Valencia, Spain.ORCID 0000-0002-7211-9129
Kei MizobuchiDepartment of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Tokyo, Japan.ORCID 0000-0001-5389-6507
Rajarshi MukherjeeDepartment of Ophthalmology, Leeds Teaching Hospitals NHS Trust, St James's University Hospital, Leeds, UK.ORCID 0000-0002-8707-6248
Zoltán Zsolt NagyDepartment of Ophthalmology, Semmelweis University, Budapest, Hungary.
Kornelia NevelingDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0009-0000-8055-5329
Monika OłdakDepartment of Histology and Embryology, Medical University of Warsaw, Warsaw, Poland.ORCID 0000-0002-4216-9141
Michiel OorsprongDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Yang PanDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Meguro-ku, Tokyo, Japan.ORCID 0000-0001-7673-2599
Anastasia PapachristouDepartment of Ophthalmology, School of Medicine, University of Crete, Heraklion, Crete, Greece.
Antonio PercesepeDepartment of Medicine and Surgery, Medical Genetics, University of Parma, Parma, Italy.ORCID 0000-0002-3268-6786
Maximilian PfauDepartment of Ophthalmology, University of Basel, Basel, Switzerland.ORCID 0000-0001-9761-9640
Eric A PierceOcular Genomics institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-2354-4102
Emily PlaceOcular Genomics institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.
Raj RamesarDepartment of Pathology, UCT/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.ORCID 0000-0001-5688-1634
Florence Andrée RasquinOphthalmology department, HUB-Erasme Hospital, Brussels, Belgium.
Gillian I RiceSchool of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK.
Lisa RobertsDepartment of Pathology, UCT/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.ORCID 0000-0001-6766-0255
María Rodríguez-HidalgoDepartment of Neuroscience, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.ORCID 0000-0001-6464-9245
Javier Ruiz-EdderaDepartment of Neuroscience, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.ORCID 0000-0001-8486-8592
Ataf H SabirWest Midlands Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.ORCID 0000-0003-4857-1964
Ai Fujita SajikiDepartment of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.ORCID 0000-0001-7474-9194
Ana Isabel Sánchez-BarberoDepartment of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.
Asodu Sandeep SarmaHadassah Medical Center, Division of Ophthalmology, The Hebrew University of Jerusalem, Jerusalem, Israel.ORCID 0000-0001-9960-9622
Riccardo SangermanoOcular Genomics institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-8657-0810
Cristina M SantosServiço de Oftalmologia, Instituto de Oftalmologia Dr. Gama Pinto, Lisboa, Portugal.ORCID 0000-0002-4751-2180
Margherita ScarpatoDepartment of Precision Medicine, Medical Genetics, University of Campania "Luigi Vanvitelli", Naples, Italy.ORCID 0009-0006-7367-7911
Hendrik P N SchollDepartment of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria.ORCID 0000-0002-7312-0316
Dror SharonHadassah Medical Center, Division of Ophthalmology, The Hebrew University of Jerusalem, Jerusalem, Israel.ORCID 0000-0002-1789-5811
Sabrina Giovanna SignoriniChild Neuropsychiatry, IRCCS Mondino Foundation, Pavia, Italy.ORCID 0000-0002-3808-4372
Francesca SimonelliMultidisciplinary Department of Medical, Surgical and Dental Sciences, Eye Clinic, University of Campania "Luigi Vanvitelli", Naples, Italy.ORCID 0000-0001-8520-6769
Ana Berta SousaDepartment of Medical Genetics, ULS St Maria, Lisboa, Portugal.ORCID 0000-0001-5889-2492
Maria StefaniotouDepartment of Ophthalmology, School of Medicine, University of Ioannina, Ioannina, Greece.
Katarina StinglCentre for Ophthalmology, University Eye Hospital, University Hospital Tübingen, Tübingen, Germany.ORCID 0000-0002-8132-911X
Akiko SugaDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Meguro-ku, Tokyo, Japan.ORCID 0000-0001-6609-2647
Lori S SullivanDepartment of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.ORCID 0000-0001-5723-6397
Viktória SzabóDepartment of Ophthalmology, Semmelweis University, Budapest, Hungary.ORCID 0009-0002-4055-6110
Jacek P SzaflikDepartment of Ophthalmology, Medical University of Warsaw, Warsaw, Poland.ORCID 0000-0001-9100-0847
Gita TaurinaMedical Genetics and Prenatal Diagnostics Clinic, Children's Clinical University Hospital, Riga, Latvia.ORCID 0000-0002-7101-6929
Carmel ToomesDivision of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.ORCID 0000-0001-8373-9545
Viet H TranDepartment of Ophthalmology; Oculogenetics Unit, Jules Gonin University Hospital; University of Lausanne, Lausanne, Vaud, Switzerland.ORCID 0000-0002-0909-634X
Miltiadis K TsilimbarisDepartment of Ophthalmology, School of Medicine, University of Crete, Heraklion, Crete, Greece.ORCID 0000-0002-0130-1150
Pavlina TsokaDepartment of Ophthalmology, School of Medicine, University of Crete, Heraklion, Crete, Greece.ORCID 0000-0002-4876-7855
Veronika VaclavikDepartment of Ophthalmology; Oculogenetics Unit, Jules Gonin University Hospital; University of Lausanne, Lausanne, Vaud, Switzerland.ORCID 0000-0001-5050-5558
Marie VajterDepartment of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.ORCID 0000-0002-9590-9633
Sandra ValeinaEye Disease Clinic, Children's University Hospital Riga, Riga, Latvia.ORCID 0000-0002-9144-7718
Enza Maria ValenteDepartment of Molecular Medicine, University of Pavia, Pavia, Italy.ORCID 0000-0002-0600-6820
Casey ValentineDepartment of Pathology, UCT/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.ORCID 0009-0007-6907-4197
Rebeca ValeroDepartment of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, Barcelona, Spain.
Joseph van AerschotDepartment of Ophthalmology, Pediatric ophthalmology and Ophthalmogenetics, Leuven, Belgium.
L Ingeborgh van den BornThe Rotterdam Eye Hospital, Rotterdam Ophthalmic Institute, Rotterdam, The Netherlands.ORCID 0000-0002-6375-3339
Andrew R WebsterUCL Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0001-6915-9560
Laura WhelanInstitute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, The University of Dublin, Dublin 2, Ireland.ORCID 0000-0002-0537-4349
Bernd WissingerCentre for Ophthalmology, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany.ORCID 0000-0001-8964-5953
Georgia G YiotiDepartment of Ophthalmology, School of Medicine, University of Ioannina, Ioannina, Greece.
Kazutoshi YoshitakeDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Meguro-ku, Tokyo, Japan.ORCID 0000-0002-8247-9443
Juan C ZentenoDepartment of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.ORCID 0000-0002-9716-8146
Roberta ZeuliDepartment of Precision Medicine, Medical Genetics, University of Campania "Luigi Vanvitelli", Naples, Italy.ORCID 0000-0003-1783-3415
Theresia ZulegerInstitute for Medical Genetics and Applied Genomics, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany.ORCID 0009-0001-4351-3426
Chaim LandauBonei Olam - Center for Rare Jewish Genetic Diseases, Brooklyn, NY, USA.ORCID 0000-0001-5876-1062
Allan I JacobPhysicians Dialysis, Miami, FL, USA.
Frans P M CremersDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0002-4954-5592
Winston LeeDepartment of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0002-1777-8519
Jamie M EllingfordSchool of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK.ORCID 0000-0003-1137-9768
David StanekLaboratory of RNA Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.ORCID 0000-0002-5865-175X
Carlo RivoltaOphthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.ORCID 0000-0002-0733-9950
Susanne RoosingDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0001-9038-0067
Funding
NAC Attack, a phase-3, multicenter, randomized, placebo-controlled trial in patients with retinitis pigmentosaUG1EY033293 · NEI · JOHNS HOPKINS UNIVERSITY · PI Xiangrong Kong · 2022 to 2026
$18.1MRapid-Prototyping and Design CoreP30EY002162 · NEI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI LAMBA, DEEPAK ASHOK · 1985 to 2024
$16.8MPrecision Medicine for Inherited Retinal DegenerationsR01EY012910 · NEI · UNIVERSITY OF PENNSYLVANIA · PI Eric A Pierce · 1999 to 2026
$15.9MP30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Janey L Wiggs · 2002 to 2026
$15.1MInstrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9MTherapeutic gene editing and multimodal imaging in juvenile macular degeneration R24EY028758 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI AUDO , ISABELLE, SPARROW, JANET RUTHE · 2020 to 2024
$10.9MVision BiostatisticsP30EY022589 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI LINDA M ZANGWILL · 2012 to 2026
$10.3MTranslational Gene Therapy for CNGB1 Retinitis PigmentosaR24EY027285 · NEI · MICHIGAN STATE UNIVERSITY · PI HAUSWIRTH, WILLIAM W, MICHALAKIS, STYLIANOS · 2018 to 2022
$8.6MToward mechanism- and gene-based therapies for retinal degenerationR01EY018213 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2008 to 2026
$6.6MGene Silencing and Gene Editing in PhototransductionR01EY024698 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2015 to 2026
$4.7MUnraveling the molecular pathology of retinal degeneration through single cell genomicsR01EY031663 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI AYYAGARI, RADHA, FRAZER, KELLY A · 2021 to 2025
$3.3MEnhancing cone survival in retinitis pigmentosa through cell-specific therapeutic CRISPR editing of a roxadustat targetR01EY033770 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI JAMES Bryant HURLEY, Stephen H Tsang · 2022 to 2026
$2.6MNEI NIH HHS K99 EY036930NEI NIH HHS P30 EY002162NEI NIH HHS P30 EY014104NEI NIH HHS P30 EY019007NEI NIH HHS P30 EY022589NEI NIH HHS R01 EY012910NEI NIH HHS R01 EY018213NEI NIH HHS R01 EY024698NEI NIH HHS R01 EY030499NEI NIH HHS R01 EY030591NEI NIH HHS R01 EY031663NEI NIH HHS R01 EY033770NEI NIH HHS R01 EY035717NEI NIH HHS R24 EY027285NEI NIH HHS R24 EY028758NEI NIH HHS T32 EY026590NEI NIH HHS U01 EY030580NEI NIH HHS U01 EY034590NEI NIH HHS UG1 EY033286NEI NIH HHS UG1 EY033292NEI NIH HHS UG1 EY033293Wellcome Trust
Abstract
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent
Indexed as
hereditary diseasenon-codingretinitis pigmentosasnRNAspliceosomesplicing
Identifiers
What Socratic holds
Textmetadata
LicenceCC BY-NC
Read underepoch 390
Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.