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Items: 1 to 20 of 37

1.

Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.

Garavelli L, Simonte G, Rosato S, Wischmeijer A, Albertini E, Guareschi E, Longo C, Albertini G, Gelmini C, Greco C, Errico S, Savino G, Pavanello M, Happle R, Unger S, Superti-Furga A, Grzeschik KH.

Am J Med Genet A. 2013 Jul;161A(7):1750-4. doi: 10.1002/ajmg.a.35964. Epub 2013 May 21.

PMID:
23696273
2.

The Wnt signalling pathway is upregulated in an in vitro model of acquired tamoxifen resistant breast cancer.

Loh YN, Hedditch EL, Baker LA, Jary E, Ward RL, Ford CE.

BMC Cancer. 2013 Apr 2;13:174. doi: 10.1186/1471-2407-13-174.

3.

Novel and recurrent PORCN gene mutations in almost unilateral and typical focal dermal hypoplasia patients.

Nakanishi G, Hasegawa K, Oono T, Koshida S, Fujimoto N, Iwatsuki K, Tanaka H, Tanaka T.

Eur J Dermatol. 2013 Jan-Feb;23(1):64-7. doi: 10.1684/ejd.2012.1911.

PMID:
23399492
4.

Pharmacological inhibition of the Wnt acyltransferase PORCN prevents growth of WNT-driven mammary cancer.

Proffitt KD, Madan B, Ke Z, Pendharkar V, Ding L, Lee MA, Hannoush RN, Virshup DM.

Cancer Res. 2013 Jan 15;73(2):502-7. doi: 10.1158/0008-5472.CAN-12-2258. Epub 2012 Nov 27.

5.

Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome.

Alkindi S, Battin M, Aftimos S, Purvis D.

Pediatr Dermatol. 2013 Jul-Aug;30(4):476-9. doi: 10.1111/pde.12031. Epub 2012 Nov 7.

PMID:
23131169
6.

Cell biology. The unusual case of Porcupine.

Lum L, Clevers H.

Science. 2012 Aug 24;337(6097):922-3. doi: 10.1126/science.1228179. No abstract available.

7.

A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN gene.

Asano M, Fujimura T, Wakusawa C, Aoki Y, Matsubara Y, Aiba S.

Acta Derm Venereol. 2013 Jan;93(1):120-1. doi: 10.2340/00015555-1399. No abstract available.

8.

PORCN moonlights in a Wnt-independent pathway that regulates cancer cell proliferation.

Covey TM, Kaur S, Tan Ong T, Proffitt KD, Wu Y, Tan P, Virshup DM.

PLoS One. 2012;7(4):e34532. doi: 10.1371/journal.pone.0034532. Epub 2012 Apr 11.

9.

Mutation update for the PORCN gene.

Lombardi MP, Bulk S, Celli J, Lampe A, Gabbett MT, Ousager LB, van der Smagt JJ, Soller M, Stattin EL, Mannens MA, Smigiel R, Hennekam RC.

Hum Mutat. 2011 Jul;32(7):723-8. doi: 10.1002/humu.21505. Epub 2011 Jun 21. Review.

PMID:
21472892
10.

PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.

Fernandes PH, Wen S, Sutton VR, Ward PA, Van den Veyver IB, Fang P.

Genet Test Mol Biomarkers. 2010 Oct;14(5):709-13. doi: 10.1089/gtmb.2010.0089. Epub 2010 Sep 20.

PMID:
20854095
11.

Focal Dermal Hypoplasia.

Bostwick B, Van den Veyver IB, Sutton VR.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 May 15 [updated 2016 Jul 21].

12.

Novel PORCN mutations in focal dermal hypoplasia.

Froyen G, Govaerts K, Van Esch H, Verbeeck J, Tuomi ML, Heikkilä H, Torniainen S, Devriendt K, Fryns JP, Marynen P, Järvelä I, Ala-Mello S.

Clin Genet. 2009 Dec;76(6):535-43. doi: 10.1111/j.1399-0004.2009.01248.x. Epub 2009 Oct 23.

PMID:
19863546
13.

Importance of PORCN and Wnt signaling pathways in embryogenesis.

Clements SE.

Am J Med Genet A. 2009 Sep;149A(9):2050-1. doi: 10.1002/ajmg.a.32887. No abstract available.

PMID:
19681149
14.

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.

Maas SM, Lombardi MP, van Essen AJ, Wakeling EL, Castle B, Temple IK, Kumar VK, Writzl K, Hennekam RC.

J Med Genet. 2009 Oct;46(10):716-20. doi: 10.1136/jmg.2009.068403. Epub 2009 Jul 7.

PMID:
19586929
15.

PORCN mutations in focal dermal hypoplasia: coping with lethality.

Bornholdt D, Oeffner F, König A, Happle R, Alanay Y, Ascherman J, Benke PJ, Boente Mdel C, van der Burgt I, Chassaing N, Ellis I, Francisco CR, Della Giovanna P, Hamel B, Has C, Heinelt K, Janecke A, Kastrup W, Loeys B, Lohrisch I, Marcelis C, Mehraein Y, Nicolas ME, Pagliarini D, Paradisi M, Patrizi A, Piccione M, Piza-Katzer H, Prager B, Prescott K, Strien J, Utine GE, Zeller MS, Grzeschik KH.

Hum Mutat. 2009 May;30(5):E618-28. doi: 10.1002/humu.20992. Erratum in: Hum Mutat. 2009 Oct;30(10):1472-3.

PMID:
19309688
16.

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

Harmsen MB, Azzarello-Burri S, García González MM, Gillessen-Kaesbach G, Meinecke P, Müller D, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B, Wieczorek D, Zenker M, Kutsche K.

Eur J Hum Genet. 2009 Oct;17(10):1207-15. doi: 10.1038/ejhg.2009.40. Epub 2009 Mar 11.

17.

Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.

Leoyklang P, Suphapeetiporn K, Wananukul S, Shotelersuk V.

Clin Genet. 2008 Apr;73(4):373-9. doi: 10.1111/j.1399-0004.2008.00975.x. Epub 2008 Mar 3.

PMID:
18325042
18.

Suppression of PPN/MG61 attenuates Wnt/beta-catenin signaling pathway and induces apoptosis in human lung cancer.

Chen Z, Li J, Li QS, Fan JQ, Dong XM, Xu JP, Wang XM, Yang GW, Yan P, Wen GZ, Zhang YT, Niu RG, Nan PH, He J, Zhou HM.

Oncogene. 2008 May 29;27(24):3483-8. doi: 10.1038/sj.onc.1211006. Epub 2008 Jan 14.

PMID:
18193088
19.

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

Grzeschik KH, Bornholdt D, Oeffner F, König A, del Carmen Boente M, Enders H, Fritz B, Hertl M, Grasshoff U, Höfling K, Oji V, Paradisi M, Schuchardt C, Szalai Z, Tadini G, Traupe H, Happle R.

Nat Genet. 2007 Jul;39(7):833-5. Epub 2007 Jun 3.

PMID:
17546031
20.

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.

Wang X, Reid Sutton V, Omar Peraza-Llanes J, Yu Z, Rosetta R, Kou YC, Eble TN, Patel A, Thaller C, Fang P, Van den Veyver IB.

Nat Genet. 2007 Jul;39(7):836-8. Epub 2007 Jun 3.

PMID:
17546030

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