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Results: 1 to 20 of 96

1.

SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.

Mandel H, Shemer R, Borochowitz ZU, Okopnik M, Knopf C, Indelman M, Drugan A, Tiosano D, Gershoni-Baruch R, Choder M, Sprecher E.

Am J Hum Genet. 2008 Jan;82(1):39-47. doi: 10.1016/j.ajhg.2007.08.005.

PMID:
18179883
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report.

Biason-Lauber A, De Filippo G, Konrad D, Scarano G, Nazzaro A, Schoenle EJ.

Hum Reprod. 2007 Jan;22(1):224-9. Epub 2006 Sep 7.

PMID:
16959810
[PubMed - indexed for MEDLINE]
Free Article
3.

Wnt4 action in gonadal development and sex determination.

Bernard P, Harley VR.

Int J Biochem Cell Biol. 2007;39(1):31-43. Epub 2006 Jul 5. Review.

PMID:
16905353
[PubMed - indexed for MEDLINE]
4.

Negative regulation of the Wnt signal by MM-1 through inhibiting expression of the wnt4 gene.

Yoshida T, Kitaura H, Hagio Y, Sato T, Iguchi-Ariga SM, Ariga H.

Exp Cell Res. 2008 Apr 1;314(6):1217-28. doi: 10.1016/j.yexcr.2008.01.002. Epub 2008 Jan 12.

PMID:
18281035
[PubMed - indexed for MEDLINE]
5.

Expression of Wnt4 in human pituitary adenomas regulates activation of the beta-catenin-independent pathway.

Miyakoshi T, Takei M, Kajiya H, Egashira N, Takekoshi S, Teramoto A, Osamura RY.

Endocr Pathol. 2008 Winter;19(4):261-73. doi: 10.1007/s12022-008-9048-9.

PMID:
19034702
[PubMed - indexed for MEDLINE]
6.

Molecular analysis of the WNT4 gene in 6 patients with Mayer-Rokitansky-Küster-Hauser syndrome.

Drummond JB, Reis FM, Boson WL, Silveira LF, Bicalho MA, De Marco L.

Fertil Steril. 2008 Sep;90(3):857-9. Epub 2007 Nov 14.

PMID:
18001722
[PubMed - indexed for MEDLINE]
7.

No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome.

Abo-Dalo B, Roes M, Canún S, Delatycki M, Gillessen-Kaesbach G, Hrytsiuk I, Jung C, Kerr B, Mowat D, Seemanova E, Steiner CE, Stewart H, Thierry P, van Buggenhout G, White S, Zenker M, Kutsche K.

Clin Dysmorphol. 2008 Jul;17(3):181-5. doi: 10.1097/MCD.0b013e3282f2514c. No abstract available.

PMID:
18541964
[PubMed - indexed for MEDLINE]
8.

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.

Bergmann C, Senderek J, Anhuf D, Thiel CT, Ekici AB, Poblete-Gutierrez P, van Steensel M, Seelow D, Nürnberg G, Schild HH, Nürnberg P, Reis A, Frank J, Zerres K.

Am J Hum Genet. 2006 Dec;79(6):1105-9. Epub 2006 Oct 17.

PMID:
17186469
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Quercetin inhibit human SW480 colon cancer growth in association with inhibition of cyclin D1 and survivin expression through Wnt/beta-catenin signaling pathway.

Shan BE, Wang MX, Li RQ.

Cancer Invest. 2009 Jul;27(6):604-12. doi: 10.1080/07357900802337191.

PMID:
19440933
[PubMed - indexed for MEDLINE]
10.

A targeted constitutive mutation in the APC tumor suppressor gene underlies mammary but not intestinal tumorigenesis.

Gaspar C, Franken P, Molenaar L, Breukel C, van der Valk M, Smits R, Fodde R.

PLoS Genet. 2009 Jul;5(7):e1000547. doi: 10.1371/journal.pgen.1000547. Epub 2009 Jul 3.

PMID:
19578404
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Generation of an allele to inactivate Wnt4 gene function conditionally in the mouse.

Shan J, Jokela T, Peltoketo H, Vainio S.

Genesis. 2009 Nov;47(11):782-8. doi: 10.1002/dvg.20566.

PMID:
19830824
[PubMed - indexed for MEDLINE]
12.

Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.

Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z.

Am J Hum Genet. 2006 Jun;78(6):1075-80. Epub 2006 Apr 10.

PMID:
16685658
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Menin promotes the Wnt signaling pathway in pancreatic endocrine cells.

Chen G, A J, Wang M, Farley S, Lee LY, Lee LC, Sawicki MP.

Mol Cancer Res. 2008 Dec;6(12):1894-907. doi: 10.1158/1541-7786.MCR-07-2206.

PMID:
19074834
[PubMed - indexed for MEDLINE]
Free Article
14.

RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.

Brüchle NO, Frank J, Frank V, Senderek J, Akar A, Koc E, Rigopoulos D, van Steensel M, Zerres K, Bergmann C.

J Invest Dermatol. 2008 Apr;128(4):791-6. Epub 2007 Oct 4.

PMID:
17914448
[PubMed - indexed for MEDLINE]
Free Article
15.

Mutational analysis of Wnt signaling molecules in ameloblastoma with aberrant nuclear expression of beta-catenin.

Tanahashi J, Daa T, Yada N, Kashima K, Kondoh Y, Yokoyama S.

J Oral Pathol Med. 2008 Oct;37(9):565-70. doi: 10.1111/j.1600-0714.2008.00645.x. Epub 2008 Feb 17.

PMID:
18284543
[PubMed - indexed for MEDLINE]
16.

Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.

Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Megarbane A.

Am J Hum Genet. 2007 Oct;81(4):821-8. Epub 2007 Aug 9.

PMID:
17847007
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

WNT4 and sex development.

Biason-Lauber A, Konrad D.

Sex Dev. 2008;2(4-5):210-8. doi: 10.1159/000152037. Epub 2008 Nov 5. Review.

PMID:
18987495
[PubMed - indexed for MEDLINE]
18.

Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings.

Sultan C, Biason-Lauber A, Philibert P.

Gynecol Endocrinol. 2009 Jan;25(1):8-11. doi: 10.1080/09513590802288291. Review.

PMID:
19165657
[PubMed - indexed for MEDLINE]
19.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
[PubMed - indexed for MEDLINE]
20.

Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.

Mee L, Honkala H, Kopra O, Vesa J, Finnilä S, Visapää I, Sang TK, Jackson GR, Salonen R, Kestilä M, Peltonen L.

Hum Mol Genet. 2005 Jun 1;14(11):1475-88. Epub 2005 Apr 20.

PMID:
15843405
[PubMed - indexed for MEDLINE]
Free Article
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