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Items: 1 to 20 of 112


Severe PATCHED1 Deficiency in Cancer-Prone Gorlin Patient Cells Results in Intrinsic Radiosensitivity.

Vulin A, Sedkaoui M, Moratille S, Sevenet N, Soularue P, Rigaud O, Guibbal L, Dulong J, Jeggo P, Deleuze JF, Lamartine J, Martin MT.

Int J Radiat Oncol Biol Phys. 2018 Oct 1;102(2):417-425. doi: 10.1016/j.ijrobp.2018.05.057. Epub 2018 Jun 2.


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.


Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia.

Musani V, Ozretić P, Trnski D, Sabol M, Poduje S, Tošić M, Šitum M, Levanat S.

Croat Med J. 2018 Feb 28;59(1):20-24.


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.


Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.

Smith MJ, Beetz C, Williams SG, Bhaskar SS, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Bholah Z, Oudit D, Cheesman E, Kelsey A, McCabe MG, Newman WG, Evans DG.

J Clin Oncol. 2014 Dec 20;32(36):4155-61. doi: 10.1200/JCO.2014.58.2569. Epub 2014 Nov 17.


[PTCH1 gene analysis in 25 Japanese patients with Gorlin syndrome].

Endo M, Fujii K, Miyashita T, Uchikawa H, Tanabe R, Sugita K, Arai H, Kohno Y.

No To Hattatsu. 2009 Jul;41(4):259-63. Japanese.


Radiosensitivity in breast cancer assessed by the histone γ-H2AX and 53BP1 foci.

Djuzenova CS, Elsner I, Katzer A, Worschech E, Distel LV, Flentje M, Polat B.

Radiat Oncol. 2013 Apr 24;8:98. doi: 10.1186/1748-717X-8-98.


Intronic splicing mutations in PTCH1 cause Gorlin syndrome.

Bholah Z, Smith MJ, Byers HJ, Miles EK, Evans DG, Newman WG.

Fam Cancer. 2014 Sep;13(3):477-80. doi: 10.1007/s10689-014-9712-9.


New mutations and an updated database for the patched-1 (PTCH1) gene.

Reinders MG, van Hout AF, Cosgun B, Paulussen AD, Leter EM, Steijlen PM, Mosterd K, van Geel M, Gille JJ.

Mol Genet Genomic Med. 2018 May;6(3):409-415. doi: 10.1002/mgg3.380. Epub 2018 Mar 25.


Enhanced cellular radiosensitivity induced by cofilin-1 over-expression is associated with reduced DNA repair capacity.

Leu JD, Chiu YW, Lo CC, Chiang PH, Chiu SJ, Tsai CH, Hwang JJ, Chen RC, Gorbunova V, Lee YJ.

Int J Radiat Biol. 2013 Jun;89(6):433-44. doi: 10.3109/09553002.2013.767992. Epub 2013 Mar 19. Erratum in: Int J Radiat Biol. 2013 Aug;89(8):684.


Predicting Radiosensitivity with Gamma-H2AX Foci Assay after Single High-Dose-Rate and Pulsed Dose-Rate Ionizing Irradiation.

van Oorschot B, Hovingh S, Dekker A, Stalpers LJ, Franken NA.

Radiat Res. 2016 Feb;185(2):190-8. doi: 10.1667/RR14098.1. Epub 2016 Jan 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.


Gorlin syndrome-derived induced pluripotent stem cells are hypersensitive to hedgehog-mediated osteogenic induction.

Hasegawa D, Ochiai-Shino H, Onodera S, Nakamura T, Saito A, Onda T, Watanabe K, Nishimura K, Ohtaka M, Nakanishi M, Kosaki K, Yamaguchi A, Shibahara T, Azuma T.

PLoS One. 2017 Oct 31;12(10):e0186879. doi: 10.1371/journal.pone.0186879. eCollection 2017.


Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit.

Akizawa Y, Miyashita T, Sasaki R, Nagata R, Aoki R, Ishitani K, Nagashima Y, Matsui H, Saito K.

Am J Med Genet A. 2016 Apr;170A(4):1029-34. doi: 10.1002/ajmg.a.37517. Epub 2016 Jan 18.


DNA double-strand break repair of blood lymphocytes and normal tissues analysed in a preclinical mouse model: implications for radiosensitivity testing.

Rübe CE, Grudzenski S, Kühne M, Dong X, Rief N, Löbrich M, Rübe C.

Clin Cancer Res. 2008 Oct 15;14(20):6546-55. doi: 10.1158/1078-0432.CCR-07-5147.


Intrinsic Radiosensitivity and Cellular Characterization of 27 Canine Cancer Cell Lines.

Maeda J, Froning CE, Brents CA, Rose BJ, Thamm DH, Kato TA.

PLoS One. 2016 Jun 3;11(6):e0156689. doi: 10.1371/journal.pone.0156689. eCollection 2016.


First evidence of genotype-phenotype correlations in Gorlin syndrome.

Evans DG, Oudit D, Smith MJ, Rutkowski D, Allan E, Newman WG, Lear JT.

J Med Genet. 2017 Aug;54(8):530-536. doi: 10.1136/jmedgenet-2017-104669. Epub 2017 Jun 8.


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