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Urinary Anomalies in 22q11.2 Deletion (DiGeorge syndrome): From Copy Number Variations to Single-Gene Determinants of Phenotype.

作者信息

Hall Gentzon, Routh Jonathan C, Gbadegesin Rasheed A

机构信息

Duke University School of Medicine and Duke University Medical Center, Durham, North Carolina.

Duke University School of Medicine and Duke University Medical Center, Durham, North Carolina.

出版信息

Am J Kidney Dis. 2017 Jul;70(1):8-10. doi: 10.1053/j.ajkd.2017.03.017. Epub 2017 Apr 26.

DOI:10.1053/j.ajkd.2017.03.017
PMID:28456345
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5890439/
Abstract
摘要

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本文引用的文献

1
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.22q11.2微缺失综合征中肾脏缺陷的遗传驱动因素
N Engl J Med. 2017 Feb 23;376(8):742-754. doi: 10.1056/NEJMoa1609009. Epub 2017 Jan 25.
2
22q11 deletion syndrome: current perspective.22q11缺失综合征:当前观点
Appl Clin Genet. 2015 May 18;8:123-32. doi: 10.2147/TACG.S82105. eCollection 2015.
3
Translating genetic findings in hereditary nephrotic syndrome: the missing loops.遗传性肾病综合征中基因研究结果的转化:缺失的环节。
Am J Physiol Renal Physiol. 2015 Jul 1;309(1):F24-8. doi: 10.1152/ajprenal.00683.2014. Epub 2015 Mar 25.
4
Efficacy of antibiotic prophylaxis in children with vesicoureteral reflux: systematic review and meta-analysis.抗生素预防对膀胱输尿管反流患儿的疗效:系统评价与荟萃分析
J Urol. 2015 Mar;193(3):963-9. doi: 10.1016/j.juro.2014.08.112. Epub 2014 Sep 6.
5
Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.六个与弗雷泽综合征相关基因中的轻度隐性突变会导致孤立性先天性肾和尿路异常。
J Am Soc Nephrol. 2014 Sep;25(9):1917-22. doi: 10.1681/ASN.2013101103. Epub 2014 Apr 3.
6
Crk1/2 and CrkL form a hetero-oligomer and functionally complement each other during podocyte morphogenesis.Crk1/2和CrkL形成异源寡聚体,并在足细胞形态发生过程中发挥功能互补作用。
Kidney Int. 2014 Jun;85(6):1382-1394. doi: 10.1038/ki.2013.556. Epub 2014 Feb 5.
7
A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development.一项针对原发性非综合征性膀胱输尿管反流的新全基因组扫描强调了高度的遗传异质性,并显示与已涉及尿路发育的各种基因的连锁和关联。
Mol Genet Genomic Med. 2014 Jan;2(1):7-29. doi: 10.1002/mgg3.22. Epub 2013 Jul 7.
8
Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans.人类肾脏和尿路先天性异常(CAKUT)的单基因病因。
Pediatr Nephrol. 2014 Apr;29(4):695-704. doi: 10.1007/s00467-013-2684-4. Epub 2014 Jan 8.
9
Mutations in DSTYK and dominant urinary tract malformations.DSTYK 基因突变与显性泌尿道畸形。
N Engl J Med. 2013 Aug 15;369(7):621-9. doi: 10.1056/NEJMoa1214479. Epub 2013 Jul 17.
10
TNXB mutations can cause vesicoureteral reflux.TNXB 突变可导致膀胱输尿管反流。
J Am Soc Nephrol. 2013 Jul;24(8):1313-22. doi: 10.1681/ASN.2012121148. Epub 2013 Apr 25.