第一单位：
Department of General Pediatrics, University Children's Hospital, Münster, Germany.
作者：
Karl P,Schlingmann [1]
;
François,Jouret [2]
;
Kuang,Shen [3]
;
Anukrati,Nigam [4]
;
Francisco J,Arjona [5]
;
Claudia,Dafinger [6]
;
Pascal,Houillier [7]
;
Deborah P,Jones [8]
;
Felix,Kleinerüschkamp [9]
;
Jun,Oh [10]
;
Nathalie,Godefroid [11]
;
Mehmet,Eltan [12]
;
Tülay,Güran [12]
;
Stéphane,Burtey [13]
;
Marie-Christine,Parotte [14]
;
Jens,König [1]
;
Alina,Braun [6]
;
Caro,Bos [5]
;
Maria,Ibars Serra [5]
;
Holger,Rehmann [15]
;
Fried J T,Zwartkruis [15]
;
Kirsten Y,Renkema [4]
;
Karin,Klingel [16]
;
Eric,Schulze-Bahr [17]
;
Bernhard,Schermer [18]
;
Carsten,Bergmann [19]
;
Janine,Altmüller [20]
;
Holger,Thiele [20]
;
Bodo B,Beck [21]
;
Karin,Dahan [22]
;
David,Sabatini [23]
;
Max C,Liebau [24]
;
Rosa,Vargas-Poussou [25]
;
Nine V A M,Knoers [26]
;
Martin,Konrad [1]
;
Jeroen H F,de Baaij [5]
作者单位：
Department of General Pediatrics, University Children's Hospital, Münster, Germany.
[1]
Division of Nephrology, Department of Internal Medicine, University of Liège Hospital, Liège, Belgium.;Interdisciplinary Group of Applied Genoproteomics, Cardiovascular Sciences, University of Liège, Liège, Belgium.
[2]
Whitehead Institute for Biomedical Research, Cambridge, Massachusetts.;Department of Biology, Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, Massachusetts.;Koch Institute for Integrative Cancer Research, Cambridge, Massachusetts.;Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.;Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, Massachusetts.
[3]
Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
[4]
Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
[5]
Department of Pediatrics and Center for Molecular Medicine Cologne, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.;Department II of Internal Medicine and Center for Molecular Medicine Cologne, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.
[6]
Cordeliers Research Center, Centre National de la Recherche Scientifique (CNRS), ERL8228, Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne University, University of Paris, Paris, France.;Department of Physiology, Assistance Publique-Hôpitaux de Paris (AP-HP), European Hospital Georges Pompidou, Paris, France.;Reference Center for Hereditary Renal Diseases in Children and Adults (MARHEA), Paris, France.
[7]
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee.
[8]
Department of Pediatric Cardiology, University Children's Hospital, Münster, Germany.
[9]
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
[10]
Division of Pediatric Nephrology, Saint-Luc University Clinics, Catholic University of Louvain, Brussels, Belgium.
[11]
Department of Pediatric Endocrinology and Diabetes, School of Medicine, Marmara University, Istanbul, Turkey.
[12]
Center for Nephrology and Renal Transplantation, Assistance Publique-Hôpitaux de Marseille, Aix-Marseille University, Marseille, France.
[13]
Division of Nephrology-Dialysis, Department of Internal Medicine, CHR Verviers East Belgium, Verviers, Belgium.
[14]
Department of Molecular Cancer Research, Center for Molecular Medicine, Oncode Institute, University Medical Center Utrecht, Utrecht, The Netherlands.
[15]
Cardiopathology, Institute for Pathology and Neuropathology, University Hospital Tübingen, Tübingen, Germany.
[16]
Institute for Genetics of Heart Diseases (IfGH), Department of Cardiovascular Medicine, University Hospital Münster, Münster, Germany.
[17]
Department II of Internal Medicine and Center for Molecular Medicine Cologne, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.;CECAD, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.
[18]
Limbach Genetics, Medizinische Genetik Mainz, Mainz, Germany.;Division of Nephrology, Department of Medicine, University Hospital Freiburg, Breisgau, Germany.
[19]
Cologne Center for Genomics, University of Cologne, Cologne, Germany.
[20]
Institute of Human Genetics, University Hospital Cologne and University of Cologne, Faculty of Medicine, Cologne, Germany.;Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany.;Center for Rare Diseases, Medical Faculty, University of Cologne and University Hospital Cologne, Cologne, Germany.
[21]
Center of Human Genetics, Gosselies, Belgium.;Division of Nephrology, Saint-Luc University Clinics, Catholic University of Louvain, Brussels, Belgium.
[22]
Whitehead Institute for Biomedical Research, Cambridge, Massachusetts.;Department of Biology, Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, Massachusetts.;Koch Institute for Integrative Cancer Research, Cambridge, Massachusetts.;Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.
[23]
Department of Pediatrics and Center for Molecular Medicine Cologne, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.;Department II of Internal Medicine and Center for Molecular Medicine Cologne, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.;Center for Rare Diseases, Medical Faculty, University of Cologne and University Hospital Cologne, Cologne, Germany.
[24]
Department of Genetics, AP-HP, European Hospital Georges Pompidou, Paris, France.
[25]
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
[26]
医学主题词
心肌病, 扩张型(Cardiomyopathy, Dilated);女(雌)性(Female);HEK293细胞(HEK293 Cells);人类(Humans);高钙尿症(Hypercalciuria);肾疾病(Kidney Diseases);肾小管, 远端(Kidney Tubules, Distal);男(雄)性(Male);模型, 分子(Models, Molecular);单体GTP结合蛋白质类(Monomeric GTP-Binding Proteins);突变, 误义(Mutation, Missense);钠尿增多(Natriuresis);肾钙质沉着症(Nephrocalcinosis);系谱(Pedigree);蛋白质构象(Protein Conformation);肾小管输尿障碍, 先天性(Renal Tubular Transport, Inborn Errors);发作(Seizures);信号传导(Signal Transduction);TOR丝氨酸-苏氨酸激酶(TOR Serine-Threonine Kinases)
DOI
10.1681/ASN.2021030333
PMID
34607910
发布时间
2023-04-21
换一批
