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Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Moreno Traspas, Ricardo; Teoh, Tze Shin; Wong, Pui-Mun; Maier, Michael; Chia, Crystal Y; Lay, Kenneth; Ali, Nur Ain; Larson, Austin; Al Mutairi, Fuad; Al-Sannaa, Nouriya Abbas; Faqeih, Eissa Ali; Alfadhel, Majid; Cheema, Huma Arshad; Dupont, Juliette; Bézieau, Stéphane; Isidor, Bertrand; Low, Dorrain Yanwen; Wang, Yulan; Tan, Grace; Lai, Poh San; Piloquet, Hugues; Joubert, Madeleine; Kayserili, Hulya; Kripps, Kimberly A; Nahas, Shareef A; Wartchow, Eric P; Warren, Mikako; Bhavani, Gandham SriLakshmi; Dasouki, Majed; Sandoval, Renata; Carvalho, Elisa; Ramos, Luiza; Porta, Gilda; Wu, Bin; Lashkari, Harsha Prasada; AlSaleem, Badr; BaAbbad, Raeda M; Abreu Ferrão, Anabela Natália; Karageorgou, Vasiliki; Ordonez-Herrera, Natalia; Khan, Suliman; Bauer, Peter; Cogne, Benjamin; Bertoli-Avella, Aida M; Vincent, Marie; Girisha, Katta Mohan; Reversade, Bruno.
Afiliação
  • Moreno Traspas R; Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore, A*STAR, Singapore, Singapore. ricardo.traspas@reversade.com.
  • Teoh TS; Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. ricardo.traspas@reversade.com.
  • Wong PM; Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore, A*STAR, Singapore, Singapore.
  • Maier M; Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
  • Chia CY; Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore, A*STAR, Singapore, Singapore.
  • Lay K; Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore, A*STAR, Singapore, Singapore.
  • Ali NA; Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore, A*STAR, Singapore, Singapore.
  • Larson A; Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore, A*STAR, Singapore, Singapore.
  • Al Mutairi F; Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore, A*STAR, Singapore, Singapore.
  • Al-Sannaa NA; Section of Pediatrics-Clinical Genetics and Metabolism, Children's Hospital Colorado, Aurora, CO, USA.
  • Faqeih EA; Department of Genetics and Precision Medicine, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
  • Alfadhel M; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
  • Cheema HA; Pediatric Services, John Hopkins Aramco Healthcare, Dhahran, Saudi Arabia.
  • Dupont J; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Bézieau S; Department of Genetics and Precision Medicine, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
  • Isidor B; Department of Medical Genomic Research, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
  • Low DY; Division of Pediatric Gastroenterology-Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore, Pakistan.
  • Wang Y; Department of Pediatrics, Genetic Services, Lisbon North University Hospital Center, Lisbon, Portugal.
  • Tan G; Medical Genetics Service, Nantes University Hospital Center, Nantes, France.
  • Lai PS; Medical Genetics Service, Nantes University Hospital Center, Nantes, France.
  • Piloquet H; Singapore Phenome Center, Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.
  • Joubert M; Singapore Phenome Center, Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.
  • Kayserili H; Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
  • Kripps KA; Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
  • Nahas SA; Gastropediatrics Department, Nantes University Hospital Center, Nantes, France.
  • Wartchow EP; Anatomopathology Department, Nantes University Hospital Center, Nantes, France.
  • Warren M; Medical Genetics Department, School of Medicine, Koç University, Istanbul, Turkey.
  • Bhavani GS; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.
  • Dasouki M; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Sandoval R; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO, USA.
  • Carvalho E; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, CA, USA.
  • Ramos L; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
  • Porta G; Department of Pediatric Genetics, AdventHealth Medical Group, Orlando, FL, USA.
  • Wu B; Department of Oncogenetics, Hospital Sírio-Libanês, Brasília, Brazil.
  • Lashkari HP; Department of Pediatric Gastroenterology and Hepatology, Hospital da Criança de Brasília José Alencar, UniCEUB, Brasília, Brazil.
  • AlSaleem B; Mendelics Genomic Analysis, São Paulo, Brazil.
  • BaAbbad RM; Department of Pediatric Hepatology, Transplant Unit, Hospital Sírio-Libanês, São Paulo, Brazil.
  • Abreu Ferrão AN; School of Biological Sciences, Nanyang Technological University, Singapore, Singapore.
  • Karageorgou V; Institute of Structural Biology, Nanyang Technological University, Singapore, Singapore.
  • Ordonez-Herrera N; Department of Pediatrics, Kasturba Medical College, Mangalore, India.
  • Khan S; Manipal Academy of Higher Education, Manipal, India.
  • Bauer P; Section of Pediatric Gastroenterology-Hepatology, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Cogne B; Section of Pediatric Gastroenterology-Hepatology, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Bertoli-Avella AM; Department of Pediatrics, Hematology Unit, Lisbon North University Hospital Center, Lisbon, Portugal.
  • Vincent M; Centogene AG, Rostock, Germany.
  • Girisha KM; Centogene AG, Rostock, Germany.
  • Reversade B; Centogene AG, Rostock, Germany.
Nat Genet ; 54(8): 1214-1226, 2022 08.
Article em En | MEDLINE | ID: mdl-35864190
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Supressoras de Tumor / Cirrose Hepática Tipo de estudo: Etiology_studies / Screening_studies Limite: Adult / Animals / Child / Humans Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Singapura
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Supressoras de Tumor / Cirrose Hepática Tipo de estudo: Etiology_studies / Screening_studies Limite: Adult / Animals / Child / Humans Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Singapura