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Items: 1 to 20 of 124

1.

The Ptch1(DL) mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome-associated skeletal defects.

Feng W, Choi I, Clouthier DE, Niswander L, Williams T.

Genesis. 2013 Oct;51(10):677-89. doi: 10.1002/dvg.22416. Epub 2013 Aug 30.

2.

Expression of Indian Hedgehog, BMP-4 and Noggin in craniosynostosis induced by fetal constraint.

Jacob S, Wu C, Freeman TA, Koyama E, Kirschner RE.

Ann Plast Surg. 2007 Feb;58(2):215-21.

PMID:
17245153
3.

Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.

Takahashi C, Kanazawa N, Yoshikawa Y, Yoshikawa R, Saitoh Y, Chiyo H, Tanizawa T, Hashimoto-Tamaoki T, Nakano Y.

J Hum Genet. 2009 Jul;54(7):403-8. doi: 10.1038/jhg.2009.55. Epub 2009 Jun 26.

PMID:
19557015
4.

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.

Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L.

Am J Med Genet A. 2012 Feb;158A(2):391-9. doi: 10.1002/ajmg.a.34216. Epub 2011 Dec 21.

5.

The large intracellular loop of ptch1 mediates the non-canonical Hedgehog pathway through cyclin B1 in nevoid basal cell carcinoma syndrome.

Yu FY, Hong YY, Qu JF, Chen F, Li TJ.

Int J Mol Med. 2014 Aug;34(2):507-12. doi: 10.3892/ijmm.2014.1783. Epub 2014 May 16.

PMID:
24840883
6.

Sonic hedgehog signalling inhibits palatogenesis and arrests tooth development in a mouse model of the nevoid basal cell carcinoma syndrome.

Cobourne MT, Xavier GM, Depew M, Hagan L, Sealby J, Webster Z, Sharpe PT.

Dev Biol. 2009 Jul 1;331(1):38-49. doi: 10.1016/j.ydbio.2009.04.021. Epub 2009 Apr 24.

7.

Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome.

Matsuzawa N, Nagao T, Shimozato K, Niikawa N, Yoshiura KI.

J Clin Pathol. 2006 Oct;59(10):1084-6.

8.

Serpine2/PN-1 Is Required for Proliferative Expansion of Pre-Neoplastic Lesions and Malignant Progression to Medulloblastoma.

Vaillant C, Valdivieso P, Nuciforo S, Kool M, Schwarzentruber-Schauerte A, Méreau H, Cabuy E, Lobrinus JA, Pfister S, Zuniga A, Frank S, Zeller R.

PLoS One. 2015 Apr 22;10(4):e0124870. doi: 10.1371/journal.pone.0124870. eCollection 2015.

9.

Skeletal and cranio-facial signs in Gorlin syndrome from ancient Egypt to the modern age: sphenoid asymmetry in a patient with a novel PTCH1 mutation.

Ponti G, Ruini C, Pastorino L, Loschi P, Pecchi A, Malagoli M, Mandel VD, Boano R, Conti A, Pellacani G, Tomasi A.

Future Oncol. 2014 May;10(6):917-25. doi: 10.2217/fon.14.2.

10.

Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development.

Black GC, Mazerolle CJ, Wang Y, Campsall KD, Petrin D, Leonard BC, Damji KF, Evans DG, McLeod D, Wallace VA.

Hum Mol Genet. 2003 Dec 15;12(24):3269-76. Epub 2003 Oct 21.

PMID:
14570707
11.

Patched1 is required in neural crest cells for the prevention of orofacial clefts.

Metzis V, Courtney AD, Kerr MC, Ferguson C, Rondón Galeano MC, Parton RG, Wainwright BJ, Wicking C.

Hum Mol Genet. 2013 Dec 15;22(24):5026-35. doi: 10.1093/hmg/ddt353. Epub 2013 Jul 29.

PMID:
23900075
12.

A novel mutation of the PTCH1 gene activates the Shh/Gli signaling pathway in a Chinese family with nevoid basal cell carcinoma syndrome.

Zhang T, Chen M, Lü Y, Xing Q, Chen W.

Biochem Biophys Res Commun. 2011 Jun 3;409(2):166-70. doi: 10.1016/j.bbrc.2011.04.047. Epub 2011 Apr 13.

PMID:
21514272
13.

Ptch1 overexpression drives skin carcinogenesis and developmental defects in K14Ptch(FVB) mice.

Kang HC, Wakabayashi Y, Jen KY, Mao JH, Zoumpourlis V, Del Rosario R, Balmain A.

J Invest Dermatol. 2013 May;133(5):1311-20. doi: 10.1038/jid.2012.419. Epub 2012 Dec 6.

14.

Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.

Onodera S, Saito A, Hasegawa D, Morita N, Watanabe K, Nomura T, Shibahara T, Ohba S, Yamaguchi A, Azuma T.

PLoS One. 2017 Sep 15;12(9):e0184702. doi: 10.1371/journal.pone.0184702. eCollection 2017.

15.

Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma.

Fujii M, Noguchi K, Urade M, Muraki Y, Moridera K, Kishimoto H, Hashimoto-Tamaoki T, Nakano Y.

J Hum Genet. 2011 Apr;56(4):277-83. doi: 10.1038/jhg.2011.2. Epub 2011 Mar 3.

PMID:
21368767
16.

A hypomorphic allele reveals an important role of inturned in mouse skeletal development.

Chang R, Petersen JR, Niswander LA, Liu A.

Dev Dyn. 2015 Jun;244(6):736-47. doi: 10.1002/dvdy.24272. Epub 2015 May 25.

17.

Basal cell carcinomas in mice overexpressing sonic hedgehog.

Oro AE, Higgins KM, Hu Z, Bonifas JM, Epstein EH Jr, Scott MP.

Science. 1997 May 2;276(5313):817-21.

18.

Gli3Xt-J/Xt-J mice exhibit lambdoid suture craniosynostosis which results from altered osteoprogenitor proliferation and differentiation.

Rice DP, Connor EC, Veltmaat JM, Lana-Elola E, Veistinen L, Tanimoto Y, Bellusci S, Rice R.

Hum Mol Genet. 2010 Sep 1;19(17):3457-67. doi: 10.1093/hmg/ddq258. Epub 2010 Jun 22.

19.

Genetics of basal cell carcinoma.

de Zwaan SE, Haass NK.

Australas J Dermatol. 2010 May;51(2):81-92; quiz 93-4. doi: 10.1111/j.1440-0960.2009.00579.x. Review.

PMID:
20546211
20.

PTCH1 gene mutations in exon 17 and loss of heterozygosity on D9S180 microsatellite in sporadic and inherited human basal cell carcinomas.

Santos DC, Zaphiropoulos PG, Neto CF, Pimentel ER, Sanches JA Jr, Ruiz IR.

Int J Dermatol. 2011 Jul;50(7):838-43. doi: 10.1111/j.1365-4632.2010.04866.x.

PMID:
21699520

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