BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

263 related articles for article (PubMed ID: 31947599)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents.
    Wang Y; Xu L; Zhang Y; Fu H; Gao L; Guan Y; Gu W; Sun J; Chen X; Yang F; Lai E; Wang J; Jin Y; Kou Z; Qiu X; Mao J; Hu L
    Int J Biol Macromol; 2024 Feb; 257(Pt 2):128564. PubMed ID: 38061527
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations.
    Anglani F; D'Angelo A; Bertizzolo LM; Tosetto E; Ceol M; Cremasco D; Bonfante L; Addis MA; Del Prete D;
    Springerplus; 2015; 4():492. PubMed ID: 26389017
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Characterization of pre-mRNA Splicing Defects Caused by
    Mura-Escorche G; Perdomo-Ramírez A; Ramos-Trujillo E; Trujillo-Frías CJ; Claverie-Martín F;
    Biomedicines; 2023 Nov; 11(11):. PubMed ID: 38002082
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Dent disease: A window into calcium and phosphate transport.
    Anglani F; Gianesello L; Beara-Lasic L; Lieske J
    J Cell Mol Med; 2019 Nov; 23(11):7132-7142. PubMed ID: 31472005
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease.
    Tanuma A; Sato H; Takeda T; Hosojima M; Obayashi H; Hama H; Iino N; Hosaka K; Kaseda R; Imai N; Ueno M; Yamazaki M; Sakimura K; Gejyo F; Saito A
    Nephron Physiol; 2007; 107(4):p87-97. PubMed ID: 18025833
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Impaired Endosome Maturation Mediates Tubular Proteinuria in Dent Disease Cell Culture and Mouse Models.
    Shipman KE; Baty CJ; Long KR; Rbaibi Y; Cowan IA; Gerges M; Marciszyn AL; Kashlan OB; Tan RJ; Edwards A; Weisz OA
    J Am Soc Nephrol; 2023 Apr; 34(4):619-640. PubMed ID: 36758125
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Making a Dent in Dent Disease.
    Shipman KE; Weisz OA
    Function (Oxf); 2020; 1(2):zqaa017. PubMed ID: 33015630
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes.
    Addis M; Meloni C; Tosetto E; Ceol M; Cristofaro R; Melis MA; Vercelloni P; Del Prete D; Marra G; Anglani F
    Eur J Hum Genet; 2013 Jun; 21(6):687-90. PubMed ID: 23047739
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 14.