295 related articles for article (PubMed ID: 15771341)
1. [From gene to disease; PKHD1 and recessive polycystic kidney disease].
Peters DJ; Losekoot M; de Die-Smulders CE; Stevens-Baldewijns M; Breuning MH
Ned Tijdschr Geneeskd; 2005 Feb; 149(9):463-6. PubMed ID: 15771341
[TBL] [Abstract][Full Text] [Related]
2. Molecular basis of autosomal recessive polycystic kidney disease (ARPKD).
Al-Bhalal L; Akhtar M
Adv Anat Pathol; 2008 Jan; 15(1):54-8. PubMed ID: 18156813
[TBL] [Abstract][Full Text] [Related]
3. Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.
Ward CJ; Yuan D; Masyuk TV; Wang X; Punyashthiti R; Whelan S; Bacallao R; Torra R; LaRusso NF; Torres VE; Harris PC
Hum Mol Genet; 2003 Oct; 12(20):2703-10. PubMed ID: 12925574
[TBL] [Abstract][Full Text] [Related]
4. PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C; Senderek J; Schneider F; Dornia C; Küpper F; Eggermann T; Rudnik-Schöneborn S; Kirfel J; Moser M; Büttner R; Zerres K
Hum Mutat; 2004 May; 23(5):487-95. PubMed ID: 15108281
[TBL] [Abstract][Full Text] [Related]
5. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
Ward CJ; Hogan MC; Rossetti S; Walker D; Sneddon T; Wang X; Kubly V; Cunningham JM; Bacallao R; Ishibashi M; Milliner DS; Torres VE; Harris PC
Nat Genet; 2002 Mar; 30(3):259-69. PubMed ID: 11919560
[TBL] [Abstract][Full Text] [Related]
6. A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD).
Moser M; Matthiesen S; Kirfel J; Schorle H; Bergmann C; Senderek J; Rudnik-Schöneborn S; Zerres K; Buettner R
Hepatology; 2005 May; 41(5):1113-21. PubMed ID: 15830394
[TBL] [Abstract][Full Text] [Related]
7. Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C; Küpper F; Schmitt CP; Vester U; Neuhaus TJ; Senderek J; Zerres K
J Med Genet; 2005 Oct; 42(10):e63. PubMed ID: 16199545
[TBL] [Abstract][Full Text] [Related]
8. Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene.
Onuchic LF; Mrug M; Hou X; Eggermann T; Bergmann C; Zerres K; Avner ED; Furu L; Somlo S; Nagasawa Y; Germino GG; Guay-Woodford LM
Am J Med Genet; 2002 Jul; 110(4):346-52. PubMed ID: 12116208
[TBL] [Abstract][Full Text] [Related]
9. Activation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD).
Fischer DC; Jacoby U; Pape L; Ward CJ; Kuwertz-Broeking E; Renken C; Nizze H; Querfeld U; Rudolph B; Mueller-Wiefel DE; Bergmann C; Haffner D
Nephrol Dial Transplant; 2009 Jun; 24(6):1819-27. PubMed ID: 19176689
[TBL] [Abstract][Full Text] [Related]
10. Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).
Losekoot M; Haarloo C; Ruivenkamp C; White SJ; Breuning MH; Peters DJ
Hum Genet; 2005 Nov; 118(2):185-206. PubMed ID: 16133180
[TBL] [Abstract][Full Text] [Related]
11. NF-kappaB activation is required for apoptosis in fibrocystin/polyductin-depleted kidney epithelial cells.
Mangolini A; Bogo M; Durante C; Borgatti M; Gambari R; Harris PC; Rizzuto R; Pinton P; Aguiari G; del Senno L
Apoptosis; 2010 Jan; 15(1):94-104. PubMed ID: 19943112
[TBL] [Abstract][Full Text] [Related]
12. Liver disease in autosomal recessive polycystic kidney disease.
Shneider BL; Magid MS
Pediatr Transplant; 2005 Oct; 9(5):634-9. PubMed ID: 16176423
[TBL] [Abstract][Full Text] [Related]
13. Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD).
Sweeney WE; Avner ED
Cell Tissue Res; 2006 Dec; 326(3):671-85. PubMed ID: 16767405
[TBL] [Abstract][Full Text] [Related]
14. Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation.
Prelog M; Bergmann C; Ausserlechner MJ; Fischer H; Margreiter R; Gassner I; Brunner A; Jungraithmayr TC; Zerres K; Sergi C; Zimmerhackl LB
Pediatr Transplant; 2006 May; 10(3):362-6. PubMed ID: 16677362
[TBL] [Abstract][Full Text] [Related]
15. Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
Obeidova L; Seeman T; Elisakova V; Reiterova J; Puchmajerova A; Stekrova J
BMC Med Genet; 2015 Dec; 16():116. PubMed ID: 26695994
[TBL] [Abstract][Full Text] [Related]
16. [Genetic and phenotypic aspects of autosomal recessive polycystic kidney disease in southern Israel].
Finer G; Birk O; Landau D
Harefuah; 2004 Jul; 143(7):466-70, 552. PubMed ID: 15669417
[TBL] [Abstract][Full Text] [Related]
17. Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease.
Zhang D; Lu L; Yang HB; Li M; Sun H; Zeng ZP; Li XP; Xia WB; Xing XP
Chin Med J (Engl); 2012 Jul; 125(14):2482-6. PubMed ID: 22882926
[TBL] [Abstract][Full Text] [Related]
18. Regulation of cell proliferation and apoptosis through fibrocystin-prosaposin interaction.
Sun L; Wang S; Hu C; Zhang X
Arch Biochem Biophys; 2010 Oct; 502(2):130-6. PubMed ID: 20709014
[TBL] [Abstract][Full Text] [Related]
19. Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis.
Jang DG; Chae H; Shin JC; Park IY; Kim M; Kim Y
J Obstet Gynaecol Res; 2011 Nov; 37(11):1744-7. PubMed ID: 21790888
[TBL] [Abstract][Full Text] [Related]
20. Autosomal recessive polycystic kidney disease (ARPKD): new insights from the identification of the ARPKD gene, PKHD1.
Guay-Woodford LM
Pediatr Res; 2002 Dec; 52(6):830-1. PubMed ID: 12438655
[No Abstract] [Full Text] [Related]
[Next] [New Search]
