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7,464 results

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Page 1
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Carrera P, Calzavara S, Magistroni R, den Dunnen JT, Rigo F, Stenirri S, Testa F, Messa P, Cerutti R, Scolari F, Izzi C, Edefonti A, Negrisolo S, Benetti E, Alibrandi MT, Manunta P, Boletta A, Ferrari M. Carrera P, et al. Sci Rep. 2016 Aug 8;6:30850. doi: 10.1038/srep30850. Sci Rep. 2016. PMID: 27499327 Free PMC article.
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common hereditary kidney disease. We analysed PKD1 and PKD2, in a large cohort of 440 unrelated Italian patients with ADPKD and 203 relatives by direct sequencing and MLPA. …
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common hereditary kidney disease. We ana …
Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease.
Xu D, Mao A, Chen L, Wu L, Ma Y, Mei C. Xu D, et al. Clin Chem. 2024 Jun 3;70(6):841-854. doi: 10.1093/clinchem/hvae030. Clin Chem. 2024. PMID: 38527221
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by heterogeneous variants in the PKD1 and PKD2 genes. ...CONCLUSIONS: CAPKD represents a comprehensive and specific assay toward full characterization of PKD1 and …
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by heterogeneous variants in t …
Autosomal dominant polycystic kidney disease.
Cornec-Le Gall E, Alam A, Perrone RD. Cornec-Le Gall E, et al. Lancet. 2019 Mar 2;393(10174):919-935. doi: 10.1016/S0140-6736(18)32782-X. Epub 2019 Feb 25. Lancet. 2019. PMID: 30819518 Review.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and one of the most common causes of end-stage kidney disease. ...Implementation of these advances has the potential to delay kidney …
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and one …
Regulation of PKD2 channel function by TACAN.
Liu X, Zhang R, Fatehi M, Wang Y, Long W, Tian R, Deng X, Weng Z, Xu Q, Light PE, Tang J, Chen XZ. Liu X, et al. J Physiol. 2023 Jan;601(1):83-98. doi: 10.1113/JP283895. Epub 2022 Dec 13. J Physiol. 2023. PMID: 36420836 Free article.
Autosomal dominant polycystic kidney disease is caused by mutations in the membrane receptor PKD1 or the cation channel PKD2. ...TACAN inhibits the function of the PKD2 channel by physical interaction. The complex of PKD2 with TACA …
Autosomal dominant polycystic kidney disease is caused by mutations in the membrane receptor PKD1 or the cation …
Type of PKD1 mutation influences renal outcome in ADPKD.
Cornec-Le Gall E, Audrézet MP, Chen JM, Hourmant M, Morin MP, Perrichot R, Charasse C, Whebe B, Renaudineau E, Jousset P, Guillodo MP, Grall-Jezequel A, Saliou P, Férec C, Le Meur Y. Cornec-Le Gall E, et al. J Am Soc Nephrol. 2013 May;24(6):1006-13. doi: 10.1681/ASN.2012070650. Epub 2013 Feb 21. J Am Soc Nephrol. 2013. PMID: 23431072 Free PMC article.
Autosomal dominant polycystic kidney disease (ADPKD) is heterogeneous with regard to genic and allelic heterogeneity, as well as phenotypic variability. ...Here, we studied 741 patients with ADPKD from 519 pedigrees in the Genkyst cohort and confirmed …
Autosomal dominant polycystic kidney disease (ADPKD) is heterogeneous with regard to genic and allelic heterogen …
PKD2 gene variants in Chinese patients with autosomal dominant polycystic kidney disease.
Xu D, Bian R, Tuo S, Li X, Chen J, Xing X, Lu Y, Sun L, Tang X, Yu S, Mao Z, Ma Y, Mei C. Xu D, et al. Clin Genet. 2021 Sep;100(3):340-347. doi: 10.1111/cge.14008. Epub 2021 Jul 19. Clin Genet. 2021. PMID: 34101167
PKD2 gene variants account for 4.5% to 20% of patients with autosomal dominant polycystic kidney disease (ADPKD). Little is known about the clinical characteristics of PKD2 variants in Chinese patients with ADPKD. Herein, we performed a c …
PKD2 gene variants account for 4.5% to 20% of patients with autosomal dominant polycystic kidney disease …
Pkd2, mutations linking to autosomal dominant polycystic kidney disease, localizes to the endoplasmic reticulum and regulates calcium signaling in fission yeast.
Koyano T, Fujimoto T, Onishi K, Matsuyama M, Fukushima M, Kume K. Koyano T, et al. Genes Cells. 2023 Nov;28(11):811-820. doi: 10.1111/gtc.13069. Epub 2023 Sep 18. Genes Cells. 2023. PMID: 37723847 Free article.
Autosomal dominant polycystic kidney disease (ADPKD) is a renal disorder caused by mutations in the PKD2 gene, which encodes polycystin-2/Pkd2, a transient receptor potential channel. ...However, human Pkd2 failed to suppress the l …
Autosomal dominant polycystic kidney disease (ADPKD) is a renal disorder caused by mutations in the PKD2 …
Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies.
Lanktree MB, Haghighi A, di Bari I, Song X, Pei Y. Lanktree MB, et al. Clin J Am Soc Nephrol. 2021 May 8;16(5):790-799. doi: 10.2215/CJN.02320220. Epub 2020 Jul 20. Clin J Am Soc Nephrol. 2021. PMID: 32690722 Free PMC article. Review.
Autosomal dominant polycystic kidney disease is the most common monogenic cause of ESKD. ...By comprehensive screening of multiple cystic disease and modifier genes, targeted gene panel, whole-exome, or whole-genome sequencing is expected to improve bo …
Autosomal dominant polycystic kidney disease is the most common monogenic cause of ESKD. ...By comprehensive scr …
Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.
Hwang YH, Conklin J, Chan W, Roslin NM, Liu J, He N, Wang K, Sundsbak JL, Heyer CM, Haider M, Paterson AD, Harris PC, Pei Y. Hwang YH, et al. J Am Soc Nephrol. 2016 Jun;27(6):1861-8. doi: 10.1681/ASN.2015060648. Epub 2015 Oct 9. J Am Soc Nephrol. 2016. PMID: 26453610 Free PMC article.
Renal disease variability in autosomal dominant polycystic kidney disease (ADPKD) is strongly influenced by the gene locus (PKD1 versus PKD2). ...We screened these families for PKD1 and PKD2 mutations and reviewed the clinical outcomes of …
Renal disease variability in autosomal dominant polycystic kidney disease (ADPKD) is strongly influenced by the …
7,464 results