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Polycystic kidney disease: DZIP1L defines a new functional zip code for autosomal recessive PKD.

作者信息

Hartung Erum A, Guay-Woodford Lisa M

机构信息

Division of Nephrology, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, 3401 Civic Center Boulevard; Philadelphia, Pennsylvania 19104, USA.

Center for Translational Science, Children's National Health System, 6 th Floor Main Hospital, Center 6, 111 Michigan Ave NW, Washington, District of Columbia 20010, USA.

出版信息

Nat Rev Nephrol. 2017 Sep;13(9):519-520. doi: 10.1038/nrneph.2017.102. Epub 2017 Jul 24.

DOI:10.1038/nrneph.2017.102
PMID:28736432
Abstract
摘要

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The ARPKD Protein DZIP1L Regulates Ciliary Protein Entry by Modulating the Architecture and Function of Ciliary Transition Fibers.该常染色体隐性多囊肾病蛋白 DZIP1L 通过调节纤毛转换纤维的结构和功能来调控纤毛蛋白进入。
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Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.编码一种纤毛过渡区蛋白的DZIP1L发生突变会导致常染色体隐性多囊肾病。
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The genetics of Autosomal Recessive Polycystic Kidney Disease (ARPKD).常染色体隐性遗传性多囊肾病（ARPKD）的遗传学。
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Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease.通过全外显子组测序在有血缘关系的多囊肾病家系中检测 DZIP1L 突变。
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Int J Mol Sci. 2021 Jun 17;22(12):6523. doi: 10.3390/ijms22126523.
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Autosomal Recessive Polycystic Kidney Disease-The Clinical Aspects and Diagnostic Challenges.常染色体隐性多囊肾病——临床特点与诊断挑战
J Pediatr Genet. 2021 Mar;10(1):1-8. doi: 10.1055/s-0040-1714701. Epub 2020 Jul 29.
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Polycystic kidney disease.多囊肾病。

本文引用的文献

1
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.编码一种纤毛过渡区蛋白的DZIP1L发生突变会导致常染色体隐性多囊肾病。
Nat Genet. 2017 Jul;49(7):1025-1034. doi: 10.1038/ng.3871. Epub 2017 May 22.
2
Uncovering the Roles of Septins in Cilia.揭示Septin蛋白在纤毛中的作用。
Front Cell Dev Biol. 2017 Apr 6;5:36. doi: 10.3389/fcell.2017.00036. eCollection 2017.
3
The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.睫状过渡区：寻找各个部分并组装大门
Nat Rev Dis Primers. 2018 Dec 6;4(1):50. doi: 10.1038/s41572-018-0047-y.
4
The Genetic and Cellular Basis of Autosomal Dominant Polycystic Kidney Disease-A Primer for Clinicians.常染色体显性多囊肾病的遗传与细胞基础——临床医生入门指南
Front Pediatr. 2017 Dec 18;5:279. doi: 10.3389/fped.2017.00279. eCollection 2017.
Mol Cells. 2017 Apr;40(4):243-253. doi: 10.14348/molcells.2017.0054. Epub 2017 Apr 12.
4
Ciliary Mechanisms of Cyst Formation in Polycystic Kidney Disease.多囊肾病中囊肿形成的纤毛机制。
Cold Spring Harb Perspect Biol. 2017 Nov 1;9(11):a028209. doi: 10.1101/cshperspect.a028209.
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Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.肾单位肾痨13：其与卡罗利病的关联及肾中WDR19细胞内定位改变的影响
Pediatr Nephrol. 2015 Sep;30(9):1451-8. doi: 10.1007/s00467-015-3068-8. Epub 2015 Mar 1.
6
Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects.常染色体隐性遗传性多囊肾病：一种肝-肾纤维囊性疾病，具有多种表现型效应。
Pediatrics. 2014 Sep;134(3):e833-45. doi: 10.1542/peds.2013-3646. Epub 2014 Aug 11.
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Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.常染色体隐性多囊肾病诊断与管理的专家共识推荐：一次国际会议报告
J Pediatr. 2014 Sep;165(3):611-7. doi: 10.1016/j.jpeds.2014.06.015. Epub 2014 Jul 9.
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ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies.常染色体隐性多囊肾病及常染色体显性多囊肾病的早期表现：原发性多囊肾病及表型模拟。
Pediatr Nephrol. 2015 Jan;30(1):15-30. doi: 10.1007/s00467-013-2706-2. Epub 2014 Mar 1.
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Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.婴儿型肾单位肾痨中NPHP2和NPHP3的突变
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