换一批
换一批Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
作者：
Alban,Ziegler [1]
;
Rémi,Duclaux-Loras [2]
;
Céline,Revenu [3]
;
Fabienne,Charbit-Henrion [4]
;
Bernadette,Begue [2]
;
Karine,Duroure [3]
;
Linda,Grimaud [5]
;
Anne Laure,Guihot [5]
;
Valérie,Desquiret-Dumas [1]
;
Mohammed,Zarhrate [6]
;
Nicolas,Cagnard [7]
;
Emmanuel,Mas [8]
;
Anne,Breton [8]
;
Thomas,Edouard [9]
;
Clarisse,Billon [10]
;
Michael,Frank [10]
;
Estelle,Colin [11]
;
Guy,Lenaers [5]
;
Daniel,Henrion [5]
;
Stanislas,Lyonnet [12]
;
Laurence,Faivre [13]
;
Yves,Alembik [14]
;
Anaïs,Philippe [14]
;
Bruno,Moulin [15]
;
Eyal,Reinstein [16]
;
Shay,Tzur [17]
;
Ruben,Attali [17]
;
George,McGillivray [18]
;
Susan M,White [18]
;
Lyndon,Gallacher [19]
;
Kerstin,Kutsche [20]
;
Pauline,Schneeberger [20]
;
Katta M,Girisha [21]
;
Shalini S,Nayak [21]
;
Lynn,Pais [22]
;
Reza,Maroofian [23]
;
Aboulfazl,Rad [24]
;
Barbara,Vona [25]
;
Ehsan Ghayoor,Karimiani [26]
;
Caroline,Lekszas [27]
;
Thomas,Haaf [27]
;
Ludovic,Martin [28]
;
Frank,Ruemmele [29]
;
Dominique,Bonneau [1]
;
Nadine,Cerf-Bensussan [2]
;
Filippo,Del Bene [30]
;
Marianna,Parlato [31]
作者单位：
Department of Biochemistry and Molecular Biology, CHU d'Angers, 49000 Angers, France; University of Angers, MitoVasc, UMR CNRS 6015, INSERM 1083, 49933 Angers, France.
[1]
Université de Paris, Imagine Institute, Laboratory of Intestinal Immunity, INSERM, UMR1163, 75015 Paris, France.
[2]
Sorbonne Université, INSERM, CNRS, Institut de la Vision, 17 Rue Moreau, 75012 Paris, France; Institut Curie, PSL Research University, INSERM U934, CNRS UMR3215, 75005 Paris, France.
[3]
Université de Paris, Imagine Institute, Laboratory of Intestinal Immunity, INSERM, UMR1163, 75015 Paris, France; Department of Pediatric Gastroenterology, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, 75015 Paris, France; Department of Molecular Genetics, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, 75015 Paris, France.
[4]
University of Angers, MitoVasc, UMR CNRS 6015, INSERM 1083, 49933 Angers, France.
[5]
Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UMS3633, Paris Descartes Sorbonne Paris Cité University, 75015 Paris, France.
[6]
Bioinformatics Core Facility, INSERM-UMR 1163, Imagine Institute, 75015 Paris, France.
[7]
IRSD, Université de Toulouse, INSERM, INRA, ENVT, UPS, Toulouse 31300, France; Centre de Référence des Maladies Rares Digestives, and Pediatric Clinical Research Unit, Toulouse Clinical Investigation Center INSERM U1436, Hôpital des Enfants, CHU de Toulouse, Toulouse 31300, France.
[8]
Reference Centre for Marfan Syndrome and Reference Centre on Rare Bone Diseases, Pediatric Clinical Research Unit, Children's Hospital, Toulouse University Hospital, RESTORE, INSERM UMR1301, 31300 Toulouse, France.
[9]
Centre de Génétique, Centre de Référence des Maladies Vasculaires Rares, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, 75015 Paris, France.
[10]
Department of Biochemistry and Molecular Biology, CHU d'Angers, 49000 Angers, France.
[11]
Université de Paris, Imagine Institute, Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, 75015 Paris, France; Fédération de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.
[12]
Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, 21000 Dijon, France.
[13]
Département de Génétique Médicale, CHU de Hautepierre, 67200 Strasbourg, France.
[14]
Nephrology and Transplantation Department, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, 67200 Strasbourg, France.
[15]
Medical Genetics Institute, Meir Medical Center, Kfar-Saba 4428164, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
[16]
Genomic Research Department, Emedgene Technologies, 67443 Tel Aviv, Israel.
[17]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville 3052, Melbourne, VIC, Australia.
[18]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville 3052, Melbourne, VIC, Australia; Department of Paediatrics, The University of Melbourne, 3010 Parkville, Melbourne, VIC, Australia.
[19]
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
[20]
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.
[21]
Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
[22]
Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, WC1N 3BG London, UK.
[23]
Department of Otolaryngology-Head & Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University of Tübingen, 72076 Tübingen, Germany.
[24]
Department of Otolaryngology-Head & Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University of Tübingen, 72076 Tübingen, Germany; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074 Würzburg, Germany.
[25]
Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace London, SW17 ORE London, UK; Innovative Medical Research Center, Mashhad Branch, Islamic Azdad University, Mashhad 9133736351, Iran.
[26]
Institute of Human Genetics, Julius Maximilians University Würzburg, 97074 Würzburg, Germany.
[27]
University of Angers, MitoVasc, UMR CNRS 6015, INSERM 1083, 49933 Angers, France; Department of Dermatology, CHU d'Angers, 49000 Angers, France.
[28]
Université de Paris, Imagine Institute, Laboratory of Intestinal Immunity, INSERM, UMR1163, 75015 Paris, France; Department of Pediatric Gastroenterology, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, 75015 Paris, France.
[29]
Sorbonne Université, INSERM, CNRS, Institut de la Vision, 17 Rue Moreau, 75012 Paris, France; Institut Curie, PSL Research University, INSERM U934, CNRS UMR3215, 75005 Paris, France. Electronic address: filippo.del-bene@inserm.fr.
[30]
Université de Paris, Imagine Institute, Laboratory of Intestinal Immunity, INSERM, UMR1163, 75015 Paris, France. Electronic address: marianna.parlato@inserm.fr.
[31]
主题词
青少年(Adolescent);成年人(Adult);动物(Animals);骨疾病(Bone Diseases);心血管疾病(Cardiovascular Diseases);儿童(Child);结缔组织疾病(Connective Tissue Diseases);女(雌)性(Female);人类(Humans);免疫, 细胞(Immunity, Cellular);婴儿(Infant);杂合子丢失(Loss of Heterozygosity);男(雄)性(Male);中年人(Middle Aged);系谱(Pedigree);表型(Phenotype);信号传导(Signal Transduction);转化生长因子β(Transforming Growth Factor beta);青年人(Young Adult);斑马鱼(Zebrafish);β核胞浆转运蛋白类(beta Karyopherins)
DOI
10.1016/j.ajhg.2021.04.020
PMID
34010604
发布时间
2024-05-05
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American journal of human genetics
American journal of human genetics
1126-1137页
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