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24. Down-regulation of PKHD1 induces cell apoptosis through PI3K and NF-κB pathways. Sun L; Wang S; Hu C; Zhang X Exp Cell Res; 2011 Apr; 317(7):932-40. PubMed ID: 21300060 [TBL] [Abstract][Full Text] [Related]
25. Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway. Garcia-Gonzalez MA; Menezes LF; Piontek KB; Kaimori J; Huso DL; Watnick T; Onuchic LF; Guay-Woodford LM; Germino GG Hum Mol Genet; 2007 Aug; 16(16):1940-50. PubMed ID: 17575307 [TBL] [Abstract][Full Text] [Related]
26. Bioinformatic tools to determine the pathogenicity of a missense mutation in PKHD1 in autosomal recessive polycystic kidney disease. Alehabib E; Jamshidi J; Ghaedi H; Askarian F; Mahmoudieh L; Johari AH; Darvish H Nephrology (Carlton); 2017 Apr; 22(4):330-331. PubMed ID: 27595491 [No Abstract] [Full Text] [Related]
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31. Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease. Miyazaki J; Ito M; Nishizawa H; Kato T; Minami Y; Inagaki H; Ohye T; Miyata M; Boda H; Kiriyama Y; Kuroda M; Sekiya T; Kurahashi H; Fujii T BMC Med Genet; 2015 Oct; 16():98. PubMed ID: 26502924 [TBL] [Abstract][Full Text] [Related]
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34. Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. Melchionda S; Palladino T; Castellana S; Giordano M; Benetti E; De Bonis P; Zelante L; Bisceglia L J Hum Genet; 2016 Sep; 61(9):811-21. PubMed ID: 27225849 [TBL] [Abstract][Full Text] [Related]
35. Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease. Michel-Calemard L; Dijoud F; Till M; Lambert JC; Vercherat M; Tardy V; Coubes C; Morel Y Clin Genet; 2009 Feb; 75(2):203-6. PubMed ID: 19021639 [No Abstract] [Full Text] [Related]
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