Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

被引：0

作者：

Mathieu Lemaire

Véronique Frémeaux-Bacchi

Franz Schaefer

Murim Choi

Wai Ho Tang

Moglie Le Quintrec

Fadi Fakhouri

Sophie Taque

François Nobili

Frank Martinez

Weizhen Ji

John D Overton

Shrikant M Mane

Gudrun Nürnberg

Janine Altmüller

Holger Thiele

Denis Morin

Georges Deschenes

Véronique Baudouin

Brigitte Llanas

Laure Collard

Mohammed A Majid

Eva Simkova

Peter Nürnberg

Nathalie Rioux-Leclerc

Gilbert W Moeckel

Marie Claire Gubler

John Hwa

Chantal Loirat

Richard P Lifton

机构：

[1] Yale University School of Medicine,Department of Genetics

[2] Howard Hughes Medical Institute,Department of Immunology

[3] Yale University School of Medicine,Division of Pediatric Nephrology

[4] Assistance Publique–Hôpitaux de Paris,Department of Internal Medicine

[5] Hôpital Européen Georges-Pompidou,Department of Nephrology

[6] Centre de Recherche des Cordeliers,Department of Pediatrics

[7] Unité Mixte de Recherche en Santé (UMR-S) 872,Department of Pediatrics

[8] Heidelberg University Medical Center,Department of Nephrology

[9] Center for Pediatrics and Adolescent Medicine,Department of Pediatric Nephrology

[10] Heidelberg University Medical Center,Department of Pediatric Nephrology

[11] Yale Center for Mendelian Genomics,Department of Pediatric Nephrology

[12] Yale University School of Medicine,Department of Pediatrics

[13] Yale Cardiovascular Research Center,Department of Pediatrics

[14] Section of Cardiovascular Medicine,Department of Pathology

[15] Yale University School of Medicine,undefined

[16] Centre Hospitalier Universitaire (CHU) Nantes,undefined

[17] CHU Rennes,undefined

[18] CHU Besançon,undefined

[19] Assistance Publique–Hôpitaux de Paris,undefined

[20] Hôpital Necker–Enfants Malades,undefined

[21] Cologne Center for Genomics,undefined

[22] University of Cologne,undefined

[23] CHU Montpellier,undefined

[24] Assistance Publique–Hôpitaux de Paris,undefined

[25] Hôpital Universitaire Robert-Debré,undefined

[26] CHU Bordeaux,undefined

[27] Centre Hospitalier Chrétien (CHC) Liège,undefined

[28] Pediatric Nephrology Unit,undefined

[29] Dubai Hospital,undefined

[30] Center for Molecular Medicine Cologne,undefined

[31] University of Cologne,undefined

[32] ATLAS Biolabs GmbH,undefined

[33] CHU Rennes,undefined

[34] Renal Pathology and Electron Microscopy Laboratory,undefined

[35] Yale University School of Medicine,undefined

[36] Institut National de la Santé et de la Recherche Médicale (INSERM) U983,undefined

[37] Hôpital Necker–Enfants Malades,undefined

来源：

Nature Genetics | 2013年 / 45卷

关键词：

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Richard Lifton, Véronique Frémeaux-Bacchi and colleagues report that recessive mutations in DGKE cause atypical hemolytic-uremic syndrome with an early age of onset progressing to chronic kidney disease. The authors propose that loss of DGKE results in a prothrombotic state that underlies disease pathogenesis.

引用

页码：531 / 536

页数：5

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