377 related articles for article (PubMed ID: 32289351)
1. From protein uptake to Dent disease: An overview of the CLCN5 gene.
Gianesello L; Del Prete D; Ceol M; Priante G; Calò LA; Anglani F
Gene; 2020 Jul; 747():144662. PubMed ID: 32289351
[TBL] [Abstract][Full Text] [Related]
2. A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification.
Bignon Y; Alekov A; Frachon N; Lahuna O; Jean-Baptiste Doh-Egueli C; Deschênes G; Vargas-Poussou R; Lourdel S
Hum Mutat; 2018 Aug; 39(8):1139-1149. PubMed ID: 29791050
[TBL] [Abstract][Full Text] [Related]
3. Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies.
Gianesello L; Ceol M; Bertoldi L; Terrin L; Priante G; Murer L; Peruzzi L; Giordano M; Paglialonga F; Cantaluppi V; Musetti C; Valle G; Del Prete D; Anglani F; Network DDI
Int J Mol Sci; 2020 Jan; 21(2):. PubMed ID: 31947599
[TBL] [Abstract][Full Text] [Related]
4. Bone marrow transplantation improves proximal tubule dysfunction in a mouse model of Dent disease.
Gabriel SS; Belge H; Gassama A; Debaix H; Luciani A; Fehr T; Devuyst O
Kidney Int; 2017 Apr; 91(4):842-855. PubMed ID: 28143656
[TBL] [Abstract][Full Text] [Related]
5. Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Mansour-Hendili L; Blanchard A; Le Pottier N; Roncelin I; Lourdel S; Treard C; González W; Vergara-Jaque A; Morin G; Colin E; Holder-Espinasse M; Bacchetta J; Baudouin V; Benoit S; Bérard E; Bourdat-Michel G; Bouchireb K; Burtey S; Cailliez M; Cardon G; Cartery C; Champion G; Chauveau D; Cochat P; Dahan K; De la Faille R; Debray FG; Dehoux L; Deschenes G; Desport E; Devuyst O; Dieguez S; Emma F; Fischbach M; Fouque D; Fourcade J; François H; Gilbert-Dussardier B; Hannedouche T; Houillier P; Izzedine H; Janner M; Karras A; Knebelmann B; Lavocat MP; Lemoine S; Leroy V; Loirat C; Macher MA; Martin-Coignard D; Morin D; Niaudet P; Nivet H; Nobili F; Novo R; Faivre L; Rigothier C; Roussey-Kesler G; Salomon R; Schleich A; Sellier-Leclerc AL; Soulami K; Tiple A; Ulinski T; Vanhille P; Van Regemorter N; Jeunemaître X; Vargas-Poussou R
Hum Mutat; 2015 Aug; 36(8):743-52. PubMed ID: 25907713
[TBL] [Abstract][Full Text] [Related]
6. Chloride channel (Clc)-5 is necessary for exocytic trafficking of Na+/H+ exchanger 3 (NHE3).
Lin Z; Jin S; Duan X; Wang T; Martini S; Hulamm P; Cha B; Hubbard A; Donowitz M; Guggino SE
J Biol Chem; 2011 Jul; 286(26):22833-45. PubMed ID: 21561868
[TBL] [Abstract][Full Text] [Related]
7. Emerging Perspectives on the Rare Tubulopathy Dent Disease: Is Glomerular Damage a Direct Consequence of ClC-5 Dysfunction?
Priante G; Ceol M; Gianesello L; Bizzotto D; Braghetta P; Calò LA; Del Prete D; Anglani F
Int J Mol Sci; 2023 Jan; 24(2):. PubMed ID: 36674829
[TBL] [Abstract][Full Text] [Related]
8. Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function.
Durán M; Burballa C; Cantero-Recasens G; Butnaru CM; Malhotra V; Ariceta G; Sarró E; Meseguer A
Hum Mol Genet; 2021 Jul; 30(15):1413-1428. PubMed ID: 33987651
[TBL] [Abstract][Full Text] [Related]
9. Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.
Gianesello L; Del Prete D; Anglani F; Calò LA
Hum Genet; 2021 Mar; 140(3):401-421. PubMed ID: 32860533
[TBL] [Abstract][Full Text] [Related]
10. Heterogeneity in the processing of CLCN5 mutants related to Dent disease.
Grand T; L'Hoste S; Mordasini D; Defontaine N; Keck M; Pennaforte T; Genete M; Laghmani K; Teulon J; Lourdel S
Hum Mutat; 2011 Apr; 32(4):476-83. PubMed ID: 21305656
[TBL] [Abstract][Full Text] [Related]
11. Diversity of functional alterations of the ClC-5 exchanger in the region of the proton glutamate in patients with Dent disease 1.
Sakhi I; Bignon Y; Frachon N; Hureaux M; Arévalo B; González W; Vargas-Poussou R; Lourdel S
Hum Mutat; 2021 May; 42(5):537-550. PubMed ID: 33600050
[TBL] [Abstract][Full Text] [Related]
12. Renal Expression of CLC-5 and Megalin/Cubilin in Dent-1 Disease With Nonsense Mutations of
Zhai P; Lv W; Yang X; Huang Y; Zhai W; Ren X; Zhang X; Yang M; Zhang J; Guo T; Bai M; Yang Y; Ding Y; Huang Y
Pediatr Dev Pathol; 2022; 25(4):397-403. PubMed ID: 35100899
[TBL] [Abstract][Full Text] [Related]
13. Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients.
Gorvin CM; Wilmer MJ; Piret SE; Harding B; van den Heuvel LP; Wrong O; Jat PS; Lippiat JD; Levtchenko EN; Thakker RV
Proc Natl Acad Sci U S A; 2013 Apr; 110(17):7014-9. PubMed ID: 23572577
[TBL] [Abstract][Full Text] [Related]
14. Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients.
Tang X; Brown MR; Cogal AG; Gauvin D; Harris PC; Lieske JC; Romero MF; Chang MH
Physiol Rep; 2016 Apr; 4(8):. PubMed ID: 27117801
[TBL] [Abstract][Full Text] [Related]
15. Proteinuria in Dent disease: a review of the literature.
van Berkel Y; Ludwig M; van Wijk JAE; Bökenkamp A
Pediatr Nephrol; 2017 Oct; 32(10):1851-1859. PubMed ID: 27757584
[TBL] [Abstract][Full Text] [Related]
16. ClC-5 mutations associated with Dent's disease: a major role of the dimer interface.
Lourdel S; Grand T; Burgos J; González W; Sepúlveda FV; Teulon J
Pflugers Arch; 2012 Feb; 463(2):247-56. PubMed ID: 22083641
[TBL] [Abstract][Full Text] [Related]
17. A pure chloride channel mutant of CLC-5 causes Dent's disease via insufficient V-ATPase activation.
Satoh N; Yamada H; Yamazaki O; Suzuki M; Nakamura M; Suzuki A; Ashida A; Yamamoto D; Kaku Y; Sekine T; Seki G; Horita S
Pflugers Arch; 2016 Jul; 468(7):1183-1196. PubMed ID: 27044412
[TBL] [Abstract][Full Text] [Related]
18. Genetic Analysis of Dent's Disease and Functional Research of CLCN5 Mutations.
Zhang Y; Fang X; Xu H; Shen Q
DNA Cell Biol; 2017 Dec; 36(12):1151-1158. PubMed ID: 29058463
[TBL] [Abstract][Full Text] [Related]
19. Making a Dent in Dent Disease.
Shipman KE; Weisz OA
Function (Oxf); 2020; 1(2):zqaa017. PubMed ID: 33015630
[TBL] [Abstract][Full Text] [Related]
20. Characterization of renal chloride channel (CLCN5) mutations in Dent's disease.
Yamamoto K; Cox JPDT; Friedrich T; Christie PT; Bald M; Houtman PN; Lapsley MJ; Patzer L; Tsimaratos M; Van't Hoff WG; Yamaoka K; Jentsch TJ; Thakker RV
J Am Soc Nephrol; 2000 Aug; 11(8):1460-1468. PubMed ID: 10906159
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]