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Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function
The Journal of Clinical Investigation ( IF 15.9 ) Pub Date : 2019-10-15 , DOI: 10.1172/jci129937
Mathilda Bedin , Olivia Boyer , Aude Servais , Yong Li , Laure Villoing-Gaudé , Marie-Josephe Tête , Alexandra Cambier , Julien Hogan , Veronique Baudouin , Saoussen Krid , Albert Bensman , Florie Lammens , Ferielle Louillet , Bruno Ranchin , Cecile Vigneau , Iseline Bouteau , Corinne Isnard-Bagnis , Christoph J. Mache , Tobias Schäfer , Lars Pape , Markus Gödel , Tobias B. Huber , Marcus Benz , Günter Klaus , Matthias Hansen , Kay Latta , Olivier Gribouval , Vincent Morinière , Carole Tournant , Maik Grohmann , Elisa Kuhn , Timo Wagner , Christine Bole-Feysot , Fabienne Jabot-Hanin , Patrick Nitschké , Tarunveer S. Ahluwalia , Anna Köttgen , Christian Brix Folsted Andersen , Carsten Bergmann , Corinne Antignac , Matias Simons

BACKGROUND. Proteinuria is considered an unfavorable clinical condition that accelerates renal and cardiovascular disease. However, it is not clear whether all forms of proteinuria are damaging. Mutations in CUBN cause Imerslund-Gräsbeck syndrome (IGS), which is characterized by intestinal malabsorption of vitamin B12 and in some cases proteinuria. CUBN encodes for cubilin, an intestinal and proximal tubular uptake receptor containing 27 CUB domains for ligand binding.

中文翻译:

人C末端CUBN变异与慢性蛋白尿和正常肾功能有关

背景。蛋白尿被认为是不利的临床疾病,会加速肾脏和心血管疾病的发展。但是,尚不清楚所有形式的蛋白尿是否都在破坏。CUBN中的突变会引起艾默斯隆德-格拉斯贝克综合征(IGS),其特征是肠道中维生素B12吸收不良,某些情况下是蛋白尿。CUBN编码cubilin,一种肠和近端小管摄取受体,含有27个CUB结构域用于配体结合。
更新日期:2020-01-04
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