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Items: 1 to 20 of 109

1.

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 5;6(3):e1000870. doi: 10.1371/journal.pgen.1000870.

2.

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 15;20(2):223-34. doi: 10.1093/hmg/ddq457. Epub 2010 Oct 13.

3.

Mutations in PAX2 associate with adult-onset FSGS.

Barua M, Stellacci E, Stella L, Weins A, Genovese G, Muto V, Caputo V, Toka HR, Charoonratana VT, Tartaglia M, Pollak MR.

J Am Soc Nephrol. 2014 Sep;25(9):1942-53. doi: 10.1681/ASN.2013070686. Epub 2014 Mar 27.

4.

Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.

Schimmenti LA, Shim HH, Wirtschafter JD, Panzarino VA, Kashtan CE, Kirkpatrick SJ, Wargowski DS, France TD, Michel E, Dobyns WB.

Hum Mutat. 1999;14(5):369-76.

PMID:
10533062
5.

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 1;9(1):1-11.

PMID:
10587573
6.

Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype.

Taranta A, Palma A, De Luca V, Romanzo A, Massella L, Emma F, Dello Strologo L.

Clin Nephrol. 2007 Jan;67(1):1-4.

PMID:
17269592
7.

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

Schimmenti LA, Cunliffe HE, McNoe LA, Ward TA, French MC, Shim HH, Zhang YH, Proesmans W, Leys A, Byerly KA, Braddock SR, Masuno M, Imaizumi K, Devriendt K, Eccles MR.

Am J Hum Genet. 1997 Apr;60(4):869-78.

8.

The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney.

Favor J, Sandulache R, Neuhäuser-Klaus A, Pretsch W, Chatterjee B, Senft E, Wurst W, Blanquet V, Grimes P, Spörle R, Schughart K.

Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):13870-5.

9.

Optic nerve axon number in mouse is regulated by PAX2.

Alur RP, Cox TA, Crawford MA, Gong X, Brooks BP.

J AAPOS. 2008 Apr;12(2):117-21. Epub 2007 Dec 21.

10.

PAX2 mutations in fetal renal hypodysplasia.

Martinovic-Bouriel J, Benachi A, Bonnière M, Brahimi N, Esculpavit C, Morichon N, Vekemans M, Antignac C, Salomon R, Encha-Razavi F, Attié-Bitach T, Gubler MC.

Am J Med Genet A. 2010 Apr;152A(4):830-5. doi: 10.1002/ajmg.a.33133.

PMID:
20358591
11.

Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).

Devriendt K, Matthijs G, Van Damme B, Van Caesbroeck D, Eccles M, Vanrenterghem Y, Fryns JP, Leys A.

Hum Genet. 1998 Aug;103(2):149-53.

PMID:
9760197
12.

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 Nov 16;10(11):e0142843. doi: 10.1371/journal.pone.0142843. eCollection 2015.

13.

Papillorenal syndrome after Beta-interferon treatment in pregnancy.

Gucev ZS, Kirovski I, Jancevska A, Popjordanova N, Tasic V.

Ren Fail. 2009;31(7):602-5.

PMID:
19839859
14.

Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.

Fletcher J, Hu M, Berman Y, Collins F, Grigg J, McIver M, Jüppner H, Alexander SI.

J Am Soc Nephrol. 2005 Sep;16(9):2754-61. Epub 2005 Jul 27. Review.

15.

De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome.

Yoshimura K, Yoshida S, Yamaji Y, Komori A, Yoshida A, Hatae K, Kubota T, Ishibashi T.

Am J Ophthalmol. 2005 Apr;139(4):733-5.

PMID:
15808183
16.

Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.

Eccles MR, Schimmenti LA.

Clin Genet. 1999 Jul;56(1):1-9. Review.

PMID:
10466411
17.

Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation.

Samimi S, Antignac C, Combe C, Lacombe D, Renaud Rougier MB, Korobelnik JF.

Eur J Ophthalmol. 2008 Jul-Aug;18(4):656-8.

PMID:
18609495
18.

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR.

Nat Genet. 1995 Apr;9(4):358-64. Erratum in: Nat Genet. 1996 May;13(1):129.

PMID:
7795640
19.

Eye-specific expression of an ancestral jellyfish PaxB gene interferes with Pax6 function despite its conserved Pax6/Pax2 characteristics.

Ruzickova J, Piatigorsky J, Kozmik Z.

Int J Dev Biol. 2009;53(4):469-82. doi: 10.1387/ijdb.082793jr.

20.

PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies.

Negrisolo S, Benetti E, Centi S, Della Vella M, Ghirardo G, Zanon GF, Murer L, Artifoni L.

Clin Genet. 2011 Dec;80(6):581-5. doi: 10.1111/j.1399-0004.2010.01588.x. Epub 2010 Nov 25.

PMID:
21108633

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