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Items: 1 to 20 of 119

1.

Proteomic analysis of PTCH1+/- fibroblast lysate and conditioned culture media isolated from the skin of healthy subjects and nevoid basal cell carcinoma syndrome patients.

Ponti G, Bertazzoni G, Pastorino L, Monari E, Cuoghi A, Bergamini S, Bellei E, Benassi L, Azzoni P, Petrachi T, Magnoni C, Pellacani G, Loschi P, Pollio A, Witkowski AM, Tomasi A.

Biomed Res Int. 2013;2013:794028. doi: 10.1155/2013/794028. Epub 2013 Dec 4.

2.

Basal Cell Carcinoma in Gorlin's Patients: a Matter of Fibroblasts-Led Protumoral Microenvironment?

Gache Y, Brellier F, Rouanet S, Al-Qaraghuli S, Goncalves-Maia M, Burty-Valin E, Barnay S, Scarzello S, Ruat M, Sevenet N, Avril MF, Magnaldo T.

PLoS One. 2015 Dec 22;10(12):e0145369. doi: 10.1371/journal.pone.0145369. eCollection 2015.

3.

PTCH1 +/- dermal fibroblasts isolated from healthy skin of Gorlin syndrome patients exhibit features of carcinoma associated fibroblasts.

Valin A, Barnay-Verdier S, Robert T, Ripoche H, Brellier F, Chevallier-Lagente O, Avril MF, Magnaldo T.

PLoS One. 2009;4(3):e4818. doi: 10.1371/journal.pone.0004818. Epub 2009 Mar 16.

4.

Ultraviolet responses of Gorlin syndrome primary skin cells.

Brellier F, Valin A, Chevallier-Lagente O, Gorry P, Avril MF, Magnaldo T.

Br J Dermatol. 2008 Aug;159(2):445-52. doi: 10.1111/j.1365-2133.2008.08650.x. Epub 2008 May 28.

PMID:
18510667
5.

[Nevoid basal cell carcinoma syndrome with corpus callosum agenesis, PTCH1 mutation and absence of basal cell carcinoma].

Mazzuoccolo LD, Martínez MF, Muchnik C, Azurmendi PJ, Stengel F.

Medicina (B Aires). 2014;74(4):307-10. Spanish.

7.

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
8.

Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis.

Pan S, Dong Q, Sun LS, Li TJ.

Clin Cancer Res. 2010 Jan 15;16(2):442-50. doi: 10.1158/1078-0432.CCR-09-2574. Epub 2010 Jan 12.

9.

Shh and p50/Bcl3 signaling crosstalk drives pathogenesis of BCCs in Gorlin syndrome.

Chaudhary SC, Tang X, Arumugam A, Li C, Srivastava RK, Weng Z, Xu J, Zhang X, Kim AL, McKay K, Elmets CA, Kopelovich L, Bickers DR, Athar M.

Oncotarget. 2015 Nov 3;6(34):36789-814. doi: 10.18632/oncotarget.5103.

10.

PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS).

Ponti G, Manfredini M, Pastorino L, Maccaferri M, Tomasi A, Pellacani G.

Anticancer Res. 2018 Jan;38(1):471-476.

PMID:
29277811
11.

PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.

Sun LS, Li XF, Li TJ.

J Dent Res. 2008 Jun;87(6):575-9.

PMID:
18502968
12.

Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation.

Rodrigues AL, Carvalho A, Cabral R, Carneiro V, Gilardi P, Duarte CP, Puente-Prieto J, Santos P, Mota-Vieira L.

Genet Mol Res. 2014 Jul 25;13(3):5654-63. doi: 10.4238/2014.July.25.21.

13.

Unicystic ameloblastoma associated with the novel K729M PTCH1 mutation in a patient with nevoid basal cell carcinoma (Gorlin) syndrome.

Ponti G, Pollio A, Mignogna MD, Pellacani G, Pastorino L, Bianchi-Scarrà G, Di Gregorio C, Magnoni C, Azzoni P, Greco M, Seidenari S.

Cancer Genet. 2012 Apr;205(4):177-81. doi: 10.1016/j.cancergen.2012.01.012.

PMID:
22559979
14.

Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome.

Suzuki M, Hatsuse H, Nagao K, Takayama Y, Kameyama K, Kabasawa Y, Omura K, Yoshida M, Fujii K, Miyashita T.

J Hum Genet. 2012 Jul;57(7):422-6. doi: 10.1038/jhg.2012.45. Epub 2012 May 10.

PMID:
22572734
15.

PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.

Guo YY, Zhang JY, Li XF, Luo HY, Chen F, Li TJ.

PLoS One. 2013 Oct 21;8(10):e77305. doi: 10.1371/journal.pone.0077305. eCollection 2013. Review.

16.

Early-onset acral basal cell carcinomas in Gorlin syndrome.

Torrelo A, Vicente A, Navarro L, Planaguma M, Bueno E, González-Sarmiento R, Hernández-Martín A, Noguera-Morel L, Requena L, Colmenero I, Parareda A, González-Enseñat MA, Happle R.

Br J Dermatol. 2014 Nov;171(5):1227-9. doi: 10.1111/bjd.13118. Epub 2014 Oct 1.

PMID:
24837096
17.

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
18.

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
19.

Nevoid basal cell carcinoma (Gorlin) syndrome: unanswered issues.

Gorlin RJ.

J Lab Clin Med. 1999 Dec;134(6):551-2. Review. No abstract available.

PMID:
10595780
20.

Heterozygous PTCH1 Mutations Impact the Bone Metabolism in Patients With Nevoid Basal Cell Carcinoma Syndrome Likely by Regulating SPARC Expression.

Hong Y, Zhang J, Zhang H, Li X, Qu J, Zhai J, Zhang L, Chen F, Li T.

J Bone Miner Res. 2016 Jul;31(7):1413-28. doi: 10.1002/jbmr.2815. Epub 2016 Mar 12.

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