Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

dc.contributor.author	Balogh, Eszter
dc.contributor.author	Chandler, Jennifer C.
dc.contributor.author	Varga, Máté
dc.contributor.author	Tahoun, Mona
dc.contributor.author	Menyhárd, Dóra K.
dc.contributor.author	Schay, Gusztáv
dc.contributor.author	Goncalves, Tomas
dc.contributor.author	Hamar, Renáta
dc.contributor.author	Légrádi, Regina
dc.contributor.author	Szekeres, Ákos
dc.contributor.author	Gribouval, Olivier
dc.contributor.author	Kleta, Robert
dc.contributor.author	Stanescu, Horia
dc.contributor.author	Bockenhauer, Detlef
dc.contributor.author	Kerti, Andrea
dc.contributor.author	Williams, Hywel
dc.contributor.author	Kinsler, Veronica
dc.contributor.author	Di, Wei-Li
dc.contributor.author	Curtis, David
dc.contributor.author	Kolatsi-Joannou, Maria
dc.contributor.author	Hammid, Hafsa
dc.contributor.author	Szőcs, Anna
dc.contributor.author	Perczel, Kristóf
dc.contributor.author	Maka, Erika
dc.contributor.author	Toldi, Gergely
dc.contributor.author	Sava, Florentina
dc.contributor.author	Arrondel, Christelle
dc.contributor.author	Kardos, Magdolna
dc.contributor.author	Fintha, Attila
dc.contributor.author	Hossain, Ahmed
dc.contributor.author	D’Arco, Felipe
dc.contributor.author	Kaliakatsos, Mario
dc.contributor.author	Koeglmeier, Jutta
dc.contributor.author	Mifsud, William
dc.contributor.author	Moosajee, Mariya
dc.contributor.author	Faro, Ana
dc.contributor.author	Jávorszky, Eszter
dc.contributor.author	Rudas, Gábor
dc.contributor.author	Saied, Marwa H.
dc.contributor.author	Marzouk, Salah
dc.contributor.author	Kelen, Kata
dc.contributor.author	Götze, Judit
dc.contributor.author	Reusz, George
dc.contributor.author	Tulassay, Tivadar
dc.contributor.author	Dragon, François
dc.contributor.author	Mollet, Géraldine
dc.contributor.author	Motameny, Susanne
dc.contributor.author	Thiele, Holger
dc.contributor.author	Dorval, Guillaume
dc.contributor.author	Nürnberg, Peter
dc.contributor.author	Perczel, András
dc.contributor.author	Szabó, Attila J.
dc.contributor.author	Long, David A.
dc.contributor.author	Tomita, Kazunori
dc.contributor.author	Antignac, Corinne
dc.contributor.author	Waters, Aoife M.
dc.contributor.author	Tory, Kálmán
dc.date.accessioned	2022-03-09T09:13:38Z
dc.date.available	2022-03-09T09:13:38Z
dc.date.issued	2020
dc.identifier	85087467128
dc.identifier.citation	journalVolume=117;journalIssueNumber=26;journalTitle=PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA;pagerange=15137-15147;journalAbbreviatedTitle=P NATL ACAD SCI USA;
dc.identifier.uri	http://repo.lib.semmelweis.hu//handle/123456789/8543
dc.identifier.uri	doi:10.1073/pnas.2002328117
dc.format.extent	15137-15147
dc.relation.ispartof	urn:issn:0027-8424
dc.title	Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis
dc.type	Journal Article
dc.date.updated	2020-11-06T08:43:31Z
dc.language.rfc3066	en
dc.rights.holder	NULL
dc.identifier.mtmt	31349523
dc.identifier.wos	000565729700015
dc.identifier.pubmed	32554502
dc.contributor.institution	I. Sz. Gyermekgyógyászati Klinika
dc.contributor.institution	I. Sz. Szülészeti és Nőgyógyászati Klinika
dc.contributor.institution	Genetikai Tanszék
dc.contributor.institution	II. Sz. Gyermekgyógyászati Klinika
dc.contributor.institution	Orvosi Képalkotó Klinika
dc.contributor.institution	Semmelweis Egyetem
dc.contributor.institution	Neuroradiológia Tanszék
dc.contributor.institution	Szerves Kémiai Tanszék
dc.contributor.institution	MTA-SE Gyermekgyógyászati és Nephrológiai Kutatócsoport
dc.contributor.institution	Neurológiai Klinika
dc.contributor.institution	Anyagtudományok és Technológiák Doktori Iskola
dc.contributor.institution	MTA-OGYK Membránbiológiai Kutatócsoport
dc.contributor.institution	Szemészeti Klinika
dc.contributor.institution	MTA-SE Lendület Nephrogenetikai Kutatócsoport
dc.contributor.institution	Szülészeti és Nőgyógyászati Klinika
dc.contributor.institution	Biológia Doktori Iskola
dc.contributor.institution	Doktori Iskola
dc.contributor.institution	MTA-ELTE Fehérjemodellező Kutatócsoport
dc.contributor.institution	Biofizikai és Sugárbiológiai Intézet
dc.contributor.institution	Szerkezeti Kémiai és Biológiai Laboratórium (SzBKL)
dc.contributor.institution	I. Sz. Patológiai és Kísérleti Rákkutató Intézet
dc.contributor.institution	II. Sz. Patológiai Intézet
dc.mtmt.swordnote	E Balogh, JC Chandler, M Varga and M Tahoun contributed equally to this work. AM Waters and K Tory contributed equally to this work. Funding Agency and Grant Number: Hungarian Academy of Sciences MTA-SE Lendulet Research Grant [LP2015-11/2015]; Pfizer's Research GrantPfizer; National Research, Development and Innovation Office [K109718, KH125566, K116305]; Ministry of Human Capacities in Hungary; Hungarian National Research, Development and Innovation Office [NRDI-FK124230]; New National Excellence Program [UNKP-17-4]; Eotvos Lorand University Institutional Excellence Program [1783-3/2018/FEKUTSRAT]; MedinProt Synergy IV grant; European Social FundEuropean Social Fund (ESF) [EFOP-3.6.3-VEKOP-16-2017-00009]; Hungarian State; Medical Research CouncilMedical Research Council UK (MRC) [MR/K010654/1]; Kidney Research UK Innovation and Project [Paed_RP_011_20170929]; National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children National Health Service Foundation Trust; University College London; Egyptian Cultural Affairs and Mission Sector, Ministry of High Education grant; Cancer Research UKCancer Research UK [C36439/A12097]; Chercheur-boursier Award of the Fonds de Recherche en Sante du QuebecFonds de la Recherche en Sante du Quebec; Natural Sciences and Engineering Research Council of CanadaNatural Sciences and Engineering Research Council of Canada [RGPIN 249792] Funding text: We thank Rozsa Csohany, Maria Bernath, Daniel Silhavy, Kata Gyulay, Noemi Borbely, Mirjam Pencz, Zoltan Varga, and Julianna Vig for their help and Moin Saleem for providing the podocyte cell line. This work was supported by Hungarian Academy of Sciences MTA-SE Lendulet Research Grant LP2015-11/2015; Pfizer's Research Grant; Zoltan Magyary and the National Research, Development and Innovation Office grants K109718, and KH125566 (to K. Tory); and K116305 (to D.K.M.); the Ministry of Human Capacities in Hungary in the frame of Institutional Excellence Program for Higher Education, Hungarian National Research, Development and Innovation Office Grant NRDI-FK124230, New National Excellence Program Grant UNKP-17-4, and Eotvos Lorand University Institutional Excellence Program Grant 1783-3/2018/FEKUTSRAT (to M.V.); a MedinProt Synergy IV grant (to M.V. and G.S.); for the Development of the Scientific School of physicians, healthcare personnel and pharmacists Grant EFOP-3.6.3-VEKOP-16-2017-00009 from the European Social Fund and the Hungarian State (to E.B.); Medical Research Council Clinician Scientist Fellowship MR/K010654/1 (to A.M.W.); Kidney Research UK Innovation and Project Grant Paed_RP_011_20170929 and the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children National Health Service Foundation Trust and University College London (to A.M.W., J.C.C., and D.A.L.); an Egyptian Cultural Affairs and Mission Sector, Ministry of High Education grant (to M.T.); Cancer Research UK Grant C36439/A12097 (to K. Tomita); and a Chercheur-boursier Award of the Fonds de Recherche en Sante du Quebec and a grant from the Natural Sciences and Engineering Research Council of Canada RGPIN 249792 (to F. Dragon). We thank the National Information Infrastructure Development Institute (NIIFI) supercomputing center (Hungary) for providing computational facilities.