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2. Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. Okumura T; Furuichi K; Higashide T; Sakurai M; Hashimoto S; Shinozaki Y; Hara A; Iwata Y; Sakai N; Sugiyama K; Kaneko S; Wada T PLoS One; 2015; 10(11):e0142843. PubMed ID: 26571382 [TBL] [Abstract][Full Text] [Related]
3. The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype. Cross SH; McKie L; West K; Coghill EL; Favor J; Bhattacharya S; Brown SD; Jackson IJ Hum Mol Genet; 2011 Jan; 20(2):223-34. PubMed ID: 20943750 [TBL] [Abstract][Full Text] [Related]
4. Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice. Porteous S; Torban E; Cho NP; Cunliffe H; Chua L; McNoe L; Ward T; Souza C; Gus P; Giugliani R; Sato T; Yun K; Favor J; Sicotte M; Goodyer P; Eccles M Hum Mol Genet; 2000 Jan; 9(1):1-11. PubMed ID: 10587573 [TBL] [Abstract][Full Text] [Related]
5. PAX2 is dispensable for in vitro nephron formation from human induced pluripotent stem cells. Kaku Y; Taguchi A; Tanigawa S; Haque F; Sakuma T; Yamamoto T; Nishinakamura R Sci Rep; 2017 Jul; 7(1):4554. PubMed ID: 28674456 [TBL] [Abstract][Full Text] [Related]
6. Rescue of defective branching nephrogenesis in renal-coloboma syndrome by the caspase inhibitor, Z-VAD-fmk. Clark P; Dziarmaga A; Eccles M; Goodyer P J Am Soc Nephrol; 2004 Feb; 15(2):299-305. PubMed ID: 14747376 [TBL] [Abstract][Full Text] [Related]
8. A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease. Saida K; Kamei K; Morisada N; Ogura M; Ogata K; Matsuoka K; Nozu K; Iijima K; Ito S CEN Case Rep; 2020 Feb; 9(1):19-23. PubMed ID: 31538321 [TBL] [Abstract][Full Text] [Related]
9. Neuronal apoptosis inhibitory protein is expressed in developing kidney and is regulated by PAX2. Dziarmaga A; Hueber PA; Iglesias D; Hache N; Jeffs A; Gendron N; Mackenzie A; Eccles M; Goodyer P Am J Physiol Renal Physiol; 2006 Oct; 291(4):F913-20. PubMed ID: 16735463 [TBL] [Abstract][Full Text] [Related]
10. A p53-Pax2 pathway in kidney development: implications for nephrogenesis. Saifudeen Z; Liu J; Dipp S; Yao X; Li Y; McLaughlin N; Aboudehen K; El-Dahr SS PLoS One; 2012; 7(9):e44869. PubMed ID: 22984579 [TBL] [Abstract][Full Text] [Related]
11. Repression of Interstitial Identity in Nephron Progenitor Cells by Pax2 Establishes the Nephron-Interstitium Boundary during Kidney Development. Naiman N; Fujioka K; Fujino M; Valerius MT; Potter SS; McMahon AP; Kobayashi A Dev Cell; 2017 May; 41(4):349-365.e3. PubMed ID: 28535371 [TBL] [Abstract][Full Text] [Related]
12. Pax2 and pax8 regulate branching morphogenesis and nephron differentiation in the developing kidney. Narlis M; Grote D; Gaitan Y; Boualia SK; Bouchard M J Am Soc Nephrol; 2007 Apr; 18(4):1121-9. PubMed ID: 17314325 [TBL] [Abstract][Full Text] [Related]
14. Detection of PAX2 deletions and duplications using multiplex ligation-dependent probe amplification. Karger AB; Wilson JD; Bower M; Schimmenti LA; Thyagarajan B Genet Test Mol Biomarkers; 2013 Oct; 17(10):786-8. PubMed ID: 23756089 [TBL] [Abstract][Full Text] [Related]
15. Ureteric bud apoptosis and renal hypoplasia in transgenic PAX2-Bax fetal mice mimics the renal-coloboma syndrome. Dziarmaga A; Clark P; Stayner C; Julien JP; Torban E; Goodyer P; Eccles M J Am Soc Nephrol; 2003 Nov; 14(11):2767-74. PubMed ID: 14569086 [TBL] [Abstract][Full Text] [Related]
16. A common variant of the PAX2 gene is associated with reduced newborn kidney size. Quinlan J; Lemire M; Hudson T; Qu H; Benjamin A; Roy A; Pascuet E; Goodyer M; Raju C; Zhang Z; Houghton F; Goodyer P J Am Soc Nephrol; 2007 Jun; 18(6):1915-21. PubMed ID: 17513325 [TBL] [Abstract][Full Text] [Related]
17. Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human. Alur RP; Vijayasarathy C; Brown JD; Mehtani M; Onojafe IF; Sergeev YV; Boobalan E; Jones M; Tang K; Liu H; Xia CH; Gong X; Brooks BP PLoS Genet; 2010 Mar; 6(3):e1000870. PubMed ID: 20221250 [TBL] [Abstract][Full Text] [Related]
18. Regulation of c-Ret in the developing kidney is responsive to Pax2 gene dosage. Clarke JC; Patel SR; Raymond RM; Andrew S; Robinson BG; Dressler GR; Brophy PD Hum Mol Genet; 2006 Dec; 15(23):3420-8. PubMed ID: 17047028 [TBL] [Abstract][Full Text] [Related]
19. Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication. Liu J; Wang P; Huang J; Yu Z Gene; 2018 Jan; 641():74-77. PubMed ID: 29054766 [TBL] [Abstract][Full Text] [Related]
20. Pax2 in development and renal disease. Dressler GR; Woolf AS Int J Dev Biol; 1999; 43(5):463-8. PubMed ID: 10535325 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]