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References

These sources were used to develop the Genetics Home Reference gene summary on the PTCH1 gene.

Adolphe C, Hetherington R, Ellis T, Wainwright B. Patched1 functions as a gatekeeper by promoting cell cycle progression. Cancer Res. 2006 Feb 15;66(4):2081-8. PubMed citation
Bale AE, Yu KP. The hedgehog pathway and basal cell carcinomas. Hum Mol Genet. 2001 Apr;10(7):757-62. Review. PubMed citation
Entrez Gene
Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) syndrome. Genet Med. 2004 Nov-Dec;6(6):530-9. Review. PubMed citation
Iwasaki JK, Srivastava D, Moy RL, Lin HJ, Kouba DJ. The molecular genetics underlying basal cell carcinoma pathogenesis and links to targeted therapeutics. J Am Acad Dermatol. 2012 May;66(5):e167-78. doi: 10.1016/j.jaad.2010.06.054. Epub 2010 Aug 30. Review. PubMed citation
Lindström E, Shimokawa T, Toftgård R, Zaphiropoulos PG. PTCH mutations: distribution and analyses. Hum Mutat. 2006 Mar;27(3):215-9. Review. PubMed citation
Ling G, Ahmadian A, Persson A, Undén AB, Afink G, Williams C, Uhlén M, Toftgård R, Lundeberg J, Pontén F. PATCHED and p53 gene alterations in sporadic and hereditary basal cell cancer. Oncogene. 2001 Nov 22;20(53):7770-8. PubMed citation
Lupi O. Correlations between the Sonic Hedgehog pathway and basal cell carcinoma. Int J Dermatol. 2007 Nov;46(11):1113-7. Review. PubMed citation
Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet. 2002 Apr;110(4):297-301. Epub 2002 Mar 2. Erratum in: Hum Genet 2002 Oct;111(4-5):464. PubMed citation
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. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. Am J Med Genet A. 2012 Feb;158A(2):391-9. doi: 10.1002/ajmg.a.34216. Epub 2011 Dec 21. PubMed citation
OMIM: PATCHED, DROSOPHILA, HOMOLOG OF, 1
Redon R, Baujat G, Sanlaville D, Le Merrer M, Vekemans M, Munnich A, Carter NP, Cormier-Daire V, Colleaux L. Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J Hum Genet. 2006 Jun;14(6):759-67. PubMed citation


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