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Genotype and Phenotype Correlation in Patients With Dent's Disease Type 1-Clearing Muddy Waters.

作者信息

Mannemuddhu Sai Sudha, Bökenkamp Arend

机构信息

Division of Nephrology, East Tennessee Children's Hospital, Knoxville, Tennessee, USA.

Department of Medicine, University of Tennessee at Knoxville, Tennessee, USA.

出版信息

Kidney Int Rep. 2023 Apr 23;8(6):1127-1130. doi: 10.1016/j.ekir.2023.04.012. eCollection 2023 Jun.

DOI:10.1016/j.ekir.2023.04.012
PMID:37284675
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10239914/
Abstract
摘要

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引用本文的文献

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Dent disease: clinical practice recommendations.丹特病：临床实践建议。
Nephrol Dial Transplant. 2025 Apr 28;40(5):852-864. doi: 10.1093/ndt/gfaf003.

本文引用的文献

1
The Site and Type of Genetic Variation Impact the Resulting Dent Disease-1 Phenotype.基因变异的位点和类型会影响最终的丹特病1型表型。
Kidney Int Rep. 2023 Mar 23;8(6):1220-1230. doi: 10.1016/j.ekir.2023.03.012. eCollection 2023 Jun.
2
Clinical and genetic characteristics of Dent's disease type 1 in Europe.欧洲 Dent 病 1 型的临床和遗传特征。
Nephrol Dial Transplant. 2023 May 31;38(6):1497-1507. doi: 10.1093/ndt/gfac310.
3
Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function.
新型 Dent 病 1 细胞模型揭示了 ClC-5 功能丧失的生物学过程。
Hum Mol Genet. 2021 Jul 9;30(15):1413-1428. doi: 10.1093/hmg/ddab131.
4
Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.Dent 病的遗传学和表型异质性：月亮的阴暗面。
Hum Genet. 2021 Mar;140(3):401-421. doi: 10.1007/s00439-020-02219-2. Epub 2020 Aug 29.
5
Observations of a large Dent disease cohort.大量 Dent 病队列观察。
Kidney Int. 2016 Aug;90(2):430-439. doi: 10.1016/j.kint.2016.04.022. Epub 2016 Jun 22.
6
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.1型丹特病相关CLCN5基因的突变更新
Hum Mutat. 2015 Aug;36(8):743-52. doi: 10.1002/humu.22804. Epub 2015 Jun 11.
7
Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study.丹特病的表型和基因异质性——一项意大利合作研究的结果
Nephrol Dial Transplant. 2006 Sep;21(9):2452-63. doi: 10.1093/ndt/gfl274. Epub 2006 Jul 5.
8
Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.
Kidney Int. 2003 Apr;63(4):1426-32. doi: 10.1046/j.1523-1755.2003.00859.x.
9
Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease.人氯离子通道CLC-5的肾内及亚细胞分布揭示了丹特病的病理生理基础。
Hum Mol Genet. 1999 Feb;8(2):247-57. doi: 10.1093/hmg/8.2.247.