换一批Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
第一作者：
Ricardo,Moreno Traspas
第一单位：
Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore, A*STAR, Singapore, Singapore. ricardo.traspas@reversade.com.;Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. ricardo.traspas@reversade.com.
作者：
Ricardo,Moreno Traspas [1]
;
Tze Shin,Teoh [2]
;
Pui-Mun,Wong [3]
;
Michael,Maier [3]
;
Crystal Y,Chia [3]
;
Kenneth,Lay [3]
;
Nur Ain,Ali [3]
;
Austin,Larson [4]
;
Fuad,Al Mutairi [5]
;
Nouriya Abbas,Al-Sannaa [6]
;
Eissa Ali,Faqeih [7]
;
Majid,Alfadhel [8]
;
Huma Arshad,Cheema [9]
;
Juliette,Dupont [10]
;
Stéphane,Bézieau [11]
;
Bertrand,Isidor [11]
;
Dorrain Yanwen,Low [12]
;
Yulan,Wang [12]
;
Grace,Tan [13]
;
Poh San,Lai [13]
;
Hugues,Piloquet [14]
;
Madeleine,Joubert [15]
;
Hulya,Kayserili [16]
;
Kimberly A,Kripps [17]
;
Shareef A,Nahas [18]
;
Eric P,Wartchow [19]
;
Mikako,Warren [20]
;
Gandham SriLakshmi,Bhavani [21]
;
Majed,Dasouki [22]
;
Renata,Sandoval [23]
;
Elisa,Carvalho [24]
;
Luiza,Ramos [25]
;
Gilda,Porta [26]
;
Bin,Wu [27]
;
Harsha Prasada,Lashkari [28]
;
Badr,AlSaleem [29]
;
Raeda M,BaAbbad [29]
;
Anabela Natália,Abreu Ferrão [30]
;
Vasiliki,Karageorgou [31]
;
Natalia,Ordonez-Herrera [31]
;
Suliman,Khan [31]
;
Peter,Bauer [31]
;
Benjamin,Cogne [11]
;
Aida M,Bertoli-Avella [31]
;
Marie,Vincent [11]
;
Katta Mohan,Girisha [21]
;
Bruno,Reversade [32]
作者单位：
Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore, A*STAR, Singapore, Singapore. ricardo.traspas@reversade.com.;Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. ricardo.traspas@reversade.com.
[1]
Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore, A*STAR, Singapore, Singapore.;Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
[2]
Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore, A*STAR, Singapore, Singapore.
[3]
Section of Pediatrics-Clinical Genetics and Metabolism, Children's Hospital Colorado, Aurora, CO, USA.
[4]
Department of Genetics and Precision Medicine, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.;College of Medicine, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
[5]
Pediatric Services, John Hopkins Aramco Healthcare, Dhahran, Saudi Arabia.
[6]
Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
[7]
Department of Genetics and Precision Medicine, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.;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.
[8]
Division of Pediatric Gastroenterology-Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore, Pakistan.
[9]
Department of Pediatrics, Genetic Services, Lisbon North University Hospital Center, Lisbon, Portugal.
[10]
Medical Genetics Service, Nantes University Hospital Center, Nantes, France.
[11]
Singapore Phenome Center, Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.
[12]
Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
[13]
Gastropediatrics Department, Nantes University Hospital Center, Nantes, France.
[14]
Anatomopathology Department, Nantes University Hospital Center, Nantes, France.
[15]
Medical Genetics Department, School of Medicine, Koç University, Istanbul, Turkey.
[16]
Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.
[17]
Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
[18]
Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO, USA.
[19]
Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, CA, USA.
[20]
Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
[21]
Department of Pediatric Genetics, AdventHealth Medical Group, Orlando, FL, USA.
[22]
Department of Oncogenetics, Hospital Sírio-Libanês, Brasília, Brazil.
[23]
Department of Pediatric Gastroenterology and Hepatology, Hospital da Criança de Brasília José Alencar, UniCEUB, Brasília, Brazil.
[24]
Mendelics Genomic Analysis, São Paulo, Brazil.
[25]
Department of Pediatric Hepatology, Transplant Unit, Hospital Sírio-Libanês, São Paulo, Brazil.
[26]
School of Biological Sciences, Nanyang Technological University, Singapore, Singapore.;Institute of Structural Biology, Nanyang Technological University, Singapore, Singapore.
[27]
Department of Pediatrics, Kasturba Medical College, Mangalore, India.;Manipal Academy of Higher Education, Manipal, India.
[28]
Section of Pediatric Gastroenterology-Hepatology, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
[29]
Department of Pediatrics, Hematology Unit, Lisbon North University Hospital Center, Lisbon, Portugal.
[30]
Centogene AG, Rostock, Germany.
[31]
Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore, A*STAR, Singapore, Singapore. bruno@reversade.com.;Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. bruno@reversade.com.;Medical Genetics Department, School of Medicine, Koç University, Istanbul, Turkey. bruno@reversade.com.;Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore. bruno@reversade.com.;Smart-Health Initiative, Biological and Environmental Sciences and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia. bruno@reversade.com.
[32]
医学主题词
成年人(Adult);动物(Animals);儿童(Child);肝细胞(Hepatocytes);人类(Humans);肝(Liver);肝硬化(Liver Cirrhosis);RNA, 信使(RNA, Messenger);综合征(Syndrome);肿瘤抑制蛋白质类(Tumor Suppressor Proteins);斑马鱼(Zebrafish)
DOI
10.1038/s41588-022-01120-0
PMID
35864190
发布时间
2025-10-31
基金项目
IA/CRC/20/1/600002/WTDBT_/DBT-Wellcome Trust India Alliance/India
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Nature genetics
Nature genetics
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