Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
作者:
Korbinian M,Riedhammer [1]
;
Thanh-Minh T,Nguyen [2]
;
Can,Koşukcu [3]
;
Julia,Calzada-Wack [4]
;
Yong,Li [5]
;
Nurit,Assia Batzir [6]
;
Seha,Saygılı [7]
;
Vera,Wimmers [8]
;
Gwang-Jin,Kim [9]
;
Marialena,Chrysanthou [2]
;
Zeineb,Bakey [10]
;
Efrat,Sofrin-Drucker [6]
;
Markus,Kraiger [4]
;
Adrián,Sanz-Moreno [4]
;
Oana V,Amarie [4]
;
Birgit,Rathkolb [11]
;
Tanja,Klein-Rodewald [4]
;
Lillian,Garrett [12]
;
Sabine M,Hölter [13]
;
Claudia,Seisenberger [4]
;
Stefan,Haug [5]
;
Pascal,Schlosser [14]
;
Susan,Marschall [4]
;
Wolfgang,Wurst [15]
;
Helmut,Fuchs [4]
;
Valerie,Gailus-Durner [4]
;
Matthias,Wuttke [5]
;
Martin,Hrabe de Angelis [16]
;
Jasmina,Ćomić [1]
;
Özlem,Akgün Doğan [17]
;
Yasemin,Özlük [18]
;
Mehmet,Taşdemir [19]
;
Ayşe,Ağbaş [7]
;
Nur,Canpolat [7]
;
Naama,Orenstein [20]
;
Salim,Çalışkan [7]
;
Ruthild G,Weber [21]
;
Carsten,Bergmann [22]
;
Cecile,Jeanpierre [23]
;
Sophie,Saunier [23]
;
Tze Y,Lim [24]
;
Friedhelm,Hildebrandt [25]
;
Bader,Alhaddad [26]
;
Lina,Basel-Salmon [27]
;
Yael,Borovitz [28]
;
Kaman,Wu [2]
;
Dinu,Antony [10]
;
Julia,Matschkal [29]
;
Christian W,Schaaf [1]
;
Lutz,Renders [29]
;
Christoph,Schmaderer [29]
;
Manuel,Rogg [30]
;
Christoph,Schell [30]
;
Thomas,Meitinger [26]
;
Uwe,Heemann [29]
;
Anna,Köttgen [31]
;
Sebastian J,Arnold [32]
;
Fatih,Ozaltin [33]
;
Miriam,Schmidts [34]
;
Julia,Hoefele [35]
作者单位:
Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.
[1]
Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
[2]
Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Türkiye.
[3]
Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
[4]
Institute of Genetic Epidemiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
[5]
Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
[6]
Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.
[7]
Institute of Experimental and Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Freiburg, Germany; Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
[8]
Institute of Experimental and Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Freiburg, Germany.
[9]
Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
[10]
Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-University Munich, Munich, Germany; German Center for Diabetes Research (DZD), Neuherberg, Germany.
[11]
Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
[12]
Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Chair of Developmental Genetics, TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, Germany.
[13]
Institute of Genetic Epidemiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; Department of Epidemiology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, Maryland, USA.
[14]
Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Chair of Developmental Genetics, TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, Germany; Deutsches Institut für Neurodegenerative Erkrankungen (DZNE) Site Munich, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Adolf-Butenandt-Institut, Ludwig-Maximilians-University Munich, Munich, Germany.
[15]
Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; German Center for Diabetes Research (DZD), Neuherberg, Germany; Chair of Experimental Genetics, TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, Germany.
[16]
Department of Pediatrics, Division of Pediatric Genetics, Acibadem Mehmet Ali Aydinlar University, School of Medicine, Istanbul, Türkiye.
[17]
Department of Pathology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Türkiye.
[18]
Department of Pediatric Nephrology, Istinye University Faculty of Medicine, Istanbul, Türkiye.
[19]
Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
[20]
Department of Human Genetics, Hannover Medical School, Hannover, Germany.
[21]
Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany; Department of Medicine IV, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
[22]
Laboratoire des Maladies Rénales Héréditaires, Institut Imagine, Université Paris Cité, INSERM UMR 1163, Paris, France.
[23]
Department of Medicine, Division of Nephrology, Columbia University, New York, New York, USA.
[24]
Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
[25]
Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.
[26]
Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel; Felsenstein Medical Research Center, Petah Tikva, Israel.
[27]
Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Institute of Nephrology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
[28]
Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.
[29]
Institute of Surgical Pathology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
[30]
Institute of Genetic Epidemiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; CIBSS - Center for Integrative Biological Signaling Studies, University of Freiburg, Freiburg, Germany.
[31]
Institute of Experimental and Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Freiburg, Germany; CIBSS - Center for Integrative Biological Signaling Studies, University of Freiburg, Freiburg, Germany.
[32]
Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Türkiye; Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Türkiye; Nephrogenetics Laboratory, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Türkiye; Center for Genomics and Rare Diseases, Hacettepe University, Sihhiye, Ankara, Türkiye. Electronic address: fozaltin@hacettepe.edu.tr.
[33]
Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; CIBSS - Center for Integrative Biological Signaling Studies, University of Freiburg, Freiburg, Germany. Electronic address: miriam.schmidts@uniklinik-freiburg.de.
[34]
Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany. Electronic address: julia.hoefele@tum.de.
[35]
主题词
成年人(Adult);动物(Animals);人类(Humans);小鼠(Mice);胚胎结构(Embryonic Structures);全基因组关联研究(Genome-Wide Association Study);肾(Kidney);肾疾病(Kidney Diseases);小鼠, 基因敲除(Mice, Knockout);肾单位(Nephrons);转录因子(Transcription Factors);泌尿道(Urinary Tract);泌尿生殖系统畸形(Urogenital Abnormalities);膀胱输尿管返流(Vesico-Ureteral Reflux);叉头转录因子类(Forkhead Transcription Factors)
DOI
10.1016/j.kint.2023.11.032
PMID
38154558
发布时间
2024-04-02
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Kidney international
Kidney international
844-864页
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