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Items: 1 to 20 of 119

1.

Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome.

Barrott JJ, Cash GM, Smith AP, Barrow JR, Murtaugh LC.

Proc Natl Acad Sci U S A. 2011 Aug 2;108(31):12752-7. doi: 10.1073/pnas.1006437108. Epub 2011 Jul 18.

2.

Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome).

Liu W, Shaver TM, Balasa A, Ljungberg MC, Wang X, Wen S, Nguyen H, Van den Veyver IB.

PLoS One. 2012;7(3):e32331. doi: 10.1371/journal.pone.0032331. Epub 2012 Mar 6.

3.

Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis.

Bankhead EJ, Colasanto MP, Dyorich KM, Jamrich M, Murtaugh LC, Fuhrmann S.

Am J Pathol. 2015 Jan;185(1):197-213. doi: 10.1016/j.ajpath.2014.09.002. Epub 2014 Nov 3.

4.

Zygotic Porcn paternal allele deletion in mice to model human focal dermal hypoplasia.

Biechele S, Adissu HA, Cox BJ, Rossant J.

PLoS One. 2013 Nov 1;8(11):e79139. doi: 10.1371/journal.pone.0079139. eCollection 2013.

5.

Porcupine homolog is required for canonical Wnt signaling and gastrulation in mouse embryos.

Biechele S, Cox BJ, Rossant J.

Dev Biol. 2011 Jul 15;355(2):275-85. doi: 10.1016/j.ydbio.2011.04.029. Epub 2011 Apr 30.

6.

Precise regulation of porcupine activity is required for physiological Wnt signaling.

Proffitt KD, Virshup DM.

J Biol Chem. 2012 Oct 5;287(41):34167-78. doi: 10.1074/jbc.M112.381970. Epub 2012 Aug 10.

7.

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
8.

Ectodermal Wnt signaling regulates abdominal myogenesis during ventral body wall development.

Zhang L, Li H, Yu J, Cao J, Chen H, Zhao H, Zhao J, Yao Y, Cheng H, Wang L, Zhou R, Yao Z, Guo X.

Dev Biol. 2014 Mar 1;387(1):64-72. doi: 10.1016/j.ydbio.2013.12.027. Epub 2014 Jan 3.

9.

Porcn-dependent Wnt signaling is not required prior to mouse gastrulation.

Biechele S, Cockburn K, Lanner F, Cox BJ, Rossant J.

Development. 2013 Jul;140(14):2961-71. doi: 10.1242/dev.094458. Epub 2013 Jun 12.

10.

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.

11.

PORCN gene mutations and the protean nature of focal dermal hypoplasia.

Clements SE, Mellerio JE, Holden ST, McCauley J, McGrath JA.

Br J Dermatol. 2009 May;160(5):1103-9. doi: 10.1111/j.1365-2133.2009.09048.x. Epub 2009 Mar 9.

PMID:
19292719
12.

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
13.

Focal dermal hypoplasia without focal dermal hypoplasia.

Contreras-Capetillo SN, Lombardi MP, Pinto-Escalante D, Hennekam RC.

Am J Med Genet A. 2014 Mar;164A(3):778-81. doi: 10.1002/ajmg.a.36341. Epub 2013 Dec 19.

PMID:
24357603
14.

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
15.

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
16.

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
17.

A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.

Dias C, Basto J, Pinho O, Barbêdo C, Mártins M, Bornholdt D, Fortuna A, Grzeschik KH, Lima M.

Fetal Pediatr Pathol. 2010;29(5):305-13. doi: 10.3109/15513811003796912.

PMID:
20704476
18.

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.

Clements SE, Wessagowit V, Lai-Cheong JE, Arita K, McGrath JA.

J Dermatol Sci. 2008 Jan;49(1):39-42. Epub 2007 Oct 24.

PMID:
17951029
19.

Identification of key residues and regions important for porcupine-mediated Wnt acylation.

Rios-Esteves J, Haugen B, Resh MD.

J Biol Chem. 2014 Jun 13;289(24):17009-19. doi: 10.1074/jbc.M114.561209. Epub 2014 May 5.

20.

International research symposium on Goltz syndrome.

Fete TJ, Fete M.

Am J Med Genet C Semin Med Genet. 2016 Mar;172C(1):3-6. doi: 10.1002/ajmg.c.31475. Epub 2016 Feb 1.

PMID:
26834080

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