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Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Balogh, Eszter; Chandler, Jennifer C; Varga, Máté; Tahoun, Mona; Menyhárd, Dóra K; Schay, Gusztáv; Goncalves, Tomas; Hamar, Renáta; Légrádi, Regina; Szekeres, Ákos; Gribouval, Olivier; Kleta, Robert; Stanescu, Horia; Bockenhauer, Detlef; Kerti, Andrea; Williams, Hywel; Kinsler, Veronica; Di, Wei-Li; Curtis, David; Kolatsi-Joannou, Maria; Hammid, Hafsa; Szocs, Anna; Perczel, Kristóf; Maka, Erika; Toldi, Gergely; Sava, Florentina; Arrondel, Christelle; Kardos, Magdolna; Fintha, Attila; Hossain, Ahmed; D'Arco, Felipe; Kaliakatsos, Mario; Koeglmeier, Jutta; Mifsud, William; Moosajee, Mariya; Faro, Ana; Jávorszky, Eszter; Rudas, Gábor; Saied, Marwa H; Marzouk, Salah; Kelen, Kata; Götze, Judit; Reusz, George; Tulassay, Tivadar; Dragon, François; Mollet, Géraldine; Motameny, Susanne; Thiele, Holger; Dorval, Guillaume; Nürnberg, Peter.
Afiliación
  • Balogh E; MTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary.
  • Chandler JC; First Department of Pediatrics, Semmelweis University, HU 1083 Budapest, Hungary.
  • Varga M; Developmental Biology and Cancer Programme, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom.
  • Tahoun M; MTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary; mvarga@ttk.elte.hu aoife.waters@gosh.nhs.uk tory.kalman@med.semmelweis-univ.hu.
  • Menyhárd DK; Department of Genetics, Eötvös Loránd University, HU 1117 Budapest, Hungary.
  • Schay G; Developmental Biology and Cancer Programme, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom.
  • Goncalves T; Clinical and Chemical Pathology Department, Faculty of Medicine Alexandria University, EG 21500, Egypt.
  • Hamar R; MTA-ELTE Protein Modeling Research Group, Eötvös Loránd University, HU 1117 Budapest, Hungary.
  • Légrádi R; Laboratory of Structural Chemistry and Biology, Eötvös Loránd University, HU 1117 Budapest, Hungary.
  • Szekeres Á; MTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary.
  • Gribouval O; Department of Biophysics and Radiation Biology, Semmelweis University, HU 1085 Budapest, Hungary.
  • Kleta R; Chromosome Maintenance Research Group, University College London Cancer Institute, WC1E 6DD London, United Kingdom.
  • Stanescu H; Department of Genetics, Eötvös Loránd University, HU 1117 Budapest, Hungary.
  • Bockenhauer D; MTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary.
  • Kerti A; First Department of Pediatrics, Semmelweis University, HU 1083 Budapest, Hungary.
  • Williams H; First Department of Pediatrics, Semmelweis University, HU 1083 Budapest, Hungary.
  • Kinsler V; Laboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM, UMR 1163, Université de Paris, FR 75015 Paris, France.
  • Di WL; Division of Medicine, Royal Free Hospital, NW3 2QG London, United Kingdom.
  • Curtis D; Nephrology, Faculty of Medical Sciences, University College London, WC1E 6DE London, United Kingdom.
  • Kolatsi-Joannou M; Division of Medicine, Royal Free Hospital, NW3 2QG London, United Kingdom.
  • Hammid H; Nephrology, Faculty of Medical Sciences, University College London, WC1E 6DE London, United Kingdom.
  • Szocs A; Division of Medicine, Royal Free Hospital, NW3 2QG London, United Kingdom.
  • Perczel K; MTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary.
  • Maka E; First Department of Pediatrics, Semmelweis University, HU 1083 Budapest, Hungary.
  • Toldi G; GOSgene, Experimental and Personalised Medicine, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom.
  • Sava F; Genetics and Genomic Medicine, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom.
  • Arrondel C; Infection, Immunity, Inflammatory, and Physiological Medicine, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom.
  • Kardos M; University College London Genetics Institute, University College London, C1E 6AD London, United Kingdom.
  • Fintha A; Developmental Biology and Cancer Programme, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom.
  • Hossain A; Developmental Biology and Cancer Programme, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom.
  • D'Arco F; Medical Imaging Department, Neuroradiology Department, Semmelweis University, HU 1082 Budapest, Hungary.
  • Kaliakatsos M; MTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary.
  • Koeglmeier J; First Department of Pediatrics, Semmelweis University, HU 1083 Budapest, Hungary.
  • Mifsud W; Department of Ophthalmology, Semmelweis University, HU 1085 Budapest, Hungary.
  • Moosajee M; First Department of Pediatrics, Semmelweis University, HU 1083 Budapest, Hungary.
  • Faro A; MTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary.
  • Jávorszky E; Laboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM, UMR 1163, Université de Paris, FR 75015 Paris, France.
  • Rudas G; Second Department of Pathology, Semmelweis University, HU 1091 Budapest, Hungary.
  • Saied MH; Second Department of Pathology, Semmelweis University, HU 1091 Budapest, Hungary.
  • Marzouk S; Département des Sciences Biologiques, Université du Québec à Montréal, Montréal, QC H2X 1Y4, Canada.
  • Kelen K; Department of Neuro-Radiology, Great Ormond Street Hospital, WC1N 3JH London, United Kingdom.
  • Götze J; Department of Neurology, Great Ormond Street Hospital, WC1N 3JH London, United Kingdom.
  • Reusz G; Department of Gastroenterology, Great Ormond Street Hospital, WC1N 3JH London, United Kingdom.
  • Tulassay T; Department of Histopathology, Great Ormond Street Hospital, WC1N 3JH London, United Kingdom.
  • Dragon F; Institute of Ophthalmology, University College London, EC1V 9EL London, United Kingdom.
  • Mollet G; Division of Biosciences, Department of Cell and Developmental Biology, University College London, WC1E 6BT London, United Kingdom.
  • Motameny S; MTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary.
  • Thiele H; First Department of Pediatrics, Semmelweis University, HU 1083 Budapest, Hungary.
  • Dorval G; Medical Imaging Department, Neuroradiology Department, Semmelweis University, HU 1082 Budapest, Hungary.
  • Nürnberg P; Clinical and Chemical Pathology Department, Faculty of Medicine Alexandria University, EG 21500, Egypt.
Proc Natl Acad Sci U S A ; 117(26): 15137-15147, 2020 06 30.
Article en En | MEDLINE | ID: mdl-32554502
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Catarata / Proteínas Nucleares / Proteínas de Ciclo Celular / Ribonucleoproteínas Nucleolares Pequeñas / Enterocolitis / Pérdida Auditiva Sensorineural / Síndrome Nefrótico Tipo de estudio: Etiology_studies Límite: Animals / Child / Female / Humans / Male Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2020 Tipo del documento: Article País de afiliación: Hungria Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Catarata / Proteínas Nucleares / Proteínas de Ciclo Celular / Ribonucleoproteínas Nucleolares Pequeñas / Enterocolitis / Pérdida Auditiva Sensorineural / Síndrome Nefrótico Tipo de estudio: Etiology_studies Límite: Animals / Child / Female / Humans / Male Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2020 Tipo del documento: Article País de afiliación: Hungria Pais de publicación: Estados Unidos