The Varied Clinical Presentation of Autosomal Dominant Tubulointerstitial Kidney Disease Due to Mutations.
作者信息
Bleyer Anthony J, Kmoch Stanislav
机构信息
Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC, USA.
Research Unit of Rare Diseases, Department of Pediatric and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
出版信息
Kidney Int Rep. 2020 Oct 21;5(12):2133-2135. doi: 10.1016/j.ekir.2020.10.008. eCollection 2020 Dec.
Abstract
摘要
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本文引用的文献
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Kidney Int Rep. 2020 Oct 7;5(12):2341-2350. doi: 10.1016/j.ekir.2020.09.042. eCollection 2020 Dec.
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New insights into the role of HNF-1β in kidney (patho)physiology.HNF-1β 在肾脏（病理）生理学中的作用的新见解。
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Direct reprogramming of fibroblasts into renal tubular epithelial cells by defined transcription factors.通过定义的转录因子将成纤维细胞直接重编程为肾小管上皮细胞。
Nat Cell Biol. 2016 Dec;18(12):1269-1280. doi: 10.1038/ncb3437. Epub 2016 Nov 7.
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Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.肝细胞核因子1β相关肾病：不止肾囊肿与糖尿病
J Am Soc Nephrol. 2016 Feb;27(2):345-53. doi: 10.1681/ASN.2015050544. Epub 2015 Aug 28.
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Hepatocyte nuclear factor 1β controls nephron tubular development.肝细胞核因子 1β 控制肾单位小管的发育。
Development. 2013 Feb;140(4):886-96. doi: 10.1242/dev.086546.
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Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.成年型 HNF1B 肾病的诊断、治疗和预后。
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HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.肝细胞核因子1β（HNF1B）突变与低镁血症及肾性镁流失相关。
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