肾病综合征的一种罕见病因：答案 - Suppr

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An unusual cause of nephrotic syndrome: Answers.

作者信息

Yuruk Yildirim Zeynep, Ozkan Melis, Yilmaz Alev, Kayserili Hülya, Pehlivanoglu Cemile, Emre Sevinc, Nayir Ahmet

机构信息

Istanbul Faculty of Medicine, Pediatric Nephrology Department, Istanbul University, Istanbul, Turkey.

Istanbul Faculty of Medicine, Department of Pediatrics, Istanbul University, Istanbul, Turkey.

出版信息

Pediatr Nephrol. 2019 May;34(5):819-821. doi: 10.1007/s00467-018-4115-z. Epub 2018 Nov 7.

DOI:10.1007/s00467-018-4115-z

PMID:30406368

Abstract

摘要

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PLoS One. 2017 Aug 10;12(8):e0180926. doi: 10.1371/journal.pone.0180926. eCollection 2017.

High-affinity DNA-binding domains of replication protein A (RPA) direct SMARCAL1-dependent replication fork remodeling.

J Biol Chem. 2015 Feb 13;290(7):4110-7. doi: 10.1074/jbc.M114.627083. Epub 2014 Dec 31.

Bone marrow transplantation in Schimke immuno-osseous dysplasia.

Am J Med Genet A. 2013 Oct;161A(10):2609-13. doi: 10.1002/ajmg.a.36111. Epub 2013 Aug 15.

SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.

Pediatr Res. 2009 May;65(5):564-8. doi: 10.1203/PDR.0b013e3181998a74.

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J Med Genet. 2009 Jan;46(1):49-59. doi: 10.1136/jmg.2008.060095. Epub 2008 Sep 19.

Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia.

Pediatr Transplant. 2009 Jun;13(4):482-9. doi: 10.1111/j.1399-3046.2008.01013.x. Epub 2008 Sep 10.

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

Hum Mutat. 2007 Mar;28(3):273-83. doi: 10.1002/humu.20432.

Schimke immuno-osseous dysplasia: a cell autonomous disorder?

Am J Med Genet A. 2006 Feb 15;140(4):340-8. doi: 10.1002/ajmg.a.31089.

Successful renal transplantation following prior bone marrow transplantation in pediatric patients.

Pediatr Transplant. 2004 Oct;8(5):507-12. doi: 10.1111/j.1399-3046.2004.00208.x.

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相似文献

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Pediatr Nephrol. 2019 May;34(5):819-821. doi: 10.1007/s00467-018-4115-z. Epub 2018 Nov 7.

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Am J Med Genet A. 2019 Jul;179(7):1246-1252. doi: 10.1002/ajmg.a.61148. Epub 2019 Apr 30.

Klippel-Feil syndrome as a novel feature of Schimke immunoosseous dysplasia.

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J Clin Immunol. 2014 Jan;34(1):76-83. doi: 10.1007/s10875-013-9957-3. Epub 2013 Nov 7.

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Tracheobronchial anomalies in a patient with Schimke immuno-osseous dysplasia (SIOD).

Am J Med Genet A. 2015 Feb;167A(2):434-7. doi: 10.1002/ajmg.a.36858. Epub 2014 Nov 26.

Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child.

Pediatr Blood Cancer. 2013 Sep;60(9):E88-90. doi: 10.1002/pbc.24542. Epub 2013 Apr 29.

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Saudi J Kidney Dis Transpl. 2015 Sep;26(5):987-91. doi: 10.4103/1319-2442.164585.

本文引用的文献

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.

PLoS One. 2017 Aug 10;12(8):e0180926. doi: 10.1371/journal.pone.0180926. eCollection 2017.

High-affinity DNA-binding domains of replication protein A (RPA) direct SMARCAL1-dependent replication fork remodeling.

J Biol Chem. 2015 Feb 13;290(7):4110-7. doi: 10.1074/jbc.M114.627083. Epub 2014 Dec 31.

Bone marrow transplantation in Schimke immuno-osseous dysplasia.

Am J Med Genet A. 2013 Oct;161A(10):2609-13. doi: 10.1002/ajmg.a.36111. Epub 2013 Aug 15.

SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.

Pediatr Res. 2009 May;65(5):564-8. doi: 10.1203/PDR.0b013e3181998a74.

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Generalized atherosclerosis sparing the transplanted kidney in Schimke disease.

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