Citations for
1PTCH1, SMO
Smoothened stimulation by membrane sterols drives Hedgehog pathway activity.
Deshpande I, Liang J, Hedeen D, Roberts KJ, Zhang Y, Ha B, Latorraca NR, Faust B, Dror RO, Beachy PA, Myers BR, Manglik A.
Nature Jul;571(7764):284-288. doi: 10.1038/s41586-019-1355-4. Epub 2019 Jul 1 2019
2PTCH1, SMO
Hedgehog reciprocally controls trafficking of Smo and Ptc through the Smurf family of E3 ubiquitin ligases.
Li S, Li S, Wang B, Jiang J.
Sci Signal. Feb 6;11(516):eaan8660. doi: 10.1126/scisignal.aan8660 2018
3CHL1, PTCH1
The cell adhesion molecule CHL1 interacts with patched-1 to regulate apoptosis during postnatal cerebellar development.
Katic J, Loers G, Tosic J, Schachner M, Kleene R.
J Cell Sci 130(15):2606-2619. doi: 10.1242/jcs.194563. Epub 2017 Jun 19. 2017
4PTCH1, PTCH2, SMO
Patched1 and Patched2 inhibit Smoothened non-cell autonomously.
Roberts B, Casillas C, Alfaro AC, Jägers C, Roelink H.
Elife 5. pii: e17634. doi: 10.7554/eLife.17634. 2016
5CUL2, ELOB, ELOC, PTCH1, ZYG11B
The C-terminal cytoplasmic tail of hedgehog receptor Patched1 is a platform for E3 ubiquitin ligase complexes.
Yamaki Y, Kagawa H, Hatta T, Natsume T, Kawahara H.
Mol Cell Biochem. Mar;414(1-2):1-12. doi: 10.1007/s11010-015-2643-4. Epub 2016 Feb 17 2016
6PTCH1, PTCH2, SMO
Ptch2 shares overlapping functions with Ptch1 in Smo regulation and limb development.
Zhulyn O, Nieuwenhuis E, Liu YC, Angers S, Hui CC.
Dev Biol 397(2):191-202. doi: 10.1016/j.ydbio.2014.10.023. Epub 2014 Nov 13. 2015
7PTCH1, PTCH2
Patched 1 and patched 2 redundancy has a key role in regulating epidermal differentiation.
Adolphe C, Nieuwenhuis E, Villani R, Li ZJ, Kaur P, Hui CC, Wainwright BJ.
J Invest Dermatol 134(7):1981-90. doi: 10.1038/jid.2014.63. Epub 2014 Feb 3. 2014
8DEL9Q32, PTCH1, WT
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.
Isidor B, Bourdeaut F, Lafon D, Plessis G, Lacaze E, Kannengiesser C, Rossignol S, Pichon O, Briand A, Martin-Coignard D, Piccione M, David A, Delattre O, Jeanpierre C, Sévenet N, Le Caignec C.
Eur J Hum Genet 21(7):784-7. doi: 10.1038/ejhg.2012.252. Epub 2012 Nov 21. 2013
9DEL9Q22, NBCCS2, PTCH1
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.
Garavelli L, Piemontese MR, Cavazza A, Rosato S, Wischmeijer A, Gelmini C, Albertini E, Albertini G, Forzano F, Franchi F, Carella M, Zelante L, Superti-Furga A.
Am J Med Genet A m J Med Genet A. 2013 Oct 7. doi: 10.1002/ajmg.a.36259. [Epub ahead of print] 2013
10PTCH1
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 133(5):1311-20. doi: 10.1038/jid.2012.419. Epub 2012 Dec 6. 2013
11PTCH1
Inactivation of Patched1 in mice leads to development of gastrointestinal stromal-like tumors that express Pdgfrα but not kit.
Pelczar P, Zibat A, van Dop WA, Heijmans J, Bleckmann A, Gruber W, Nitzki F, Uhmann A, Guijarro MV, Hernando E, Dittmann K, Wienands J, Dressel R, Wojnowski L, Binder C, Taguchi T, Beissbarth T, Hogendoorn PC, Antonescu CR, Rubin BP, Schulz-Schaeffer W, Aberger F, van den Brink GR, Hahn H.
Gastroenterology 144(1):134-144.e6. doi: 10.1053/j.gastro.2012.09.061. Epub 2012 Oct 3. 2013
12PTCH1
Aberrant methylation of the PTCH1 gene promoter region in aberrant crypt foci.
Peng L, Hu J, Li S, Wang Z, Xia B, Jiang B, Li B, Zhang Y, Wang J, Wang X.
Int J Cancer 132(2):E18-25. doi: 10.1002/ijc.27812. Epub 2012 Sep 21. 2013
13HHIP, PTCH1, PTCH2
Essential role for ligand-dependent feedback antagonism of vertebrate hedgehog signaling by PTCH1, PTCH2 and HHIP1 during neural patterning.
Holtz AM, Peterson KA, Nishi Y, Morin S, Song JY, Charron F, McMahon AP, Allen BL.
Development 140(16):3423-34. doi: 10.1242/dev.095083. 2013
14BCNS, DEL9Q22, PTCH1
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 158A(2):391-9. doi: 10.1002/ajmg.a.34216. Epub 2011 Dec 21. 2012
15DEL9Q22, PTCH1, WT1
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.
Isidor B, Bourdeaut F, Lafon D, Plessis G, Lacaze E, Kannengiesser C, Rossignol S, Pichon O, Briand A, Martin-Coignard D, Piccione M, David A, Delattre O, Jeanpierre C, Sévenet N, Le Caignec C.
Eur J Hum Genet ur J Hum Genet. 2012 Nov 21. doi: 10.1038/ejhg.2012.252. [Epub ahead of print] 2012
16GLI1, PTCH1, SOD1
Inhibition of sonic hedgehog signaling aggravates brain damage associated with the down-regulation of Gli1, Ptch1 and SOD1 expression in acute ischemic stroke.
Ji H, Miao J, Zhang X, Du Y, Liu H, Li S, Li L.
Neurosci Lett 506(1):1-6. doi: 10.1016/j.neulet.2011.11.027. Epub 2011 Nov 25. 2012
17NBCCS2, PTCH1
Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome.
Pastorino L, Pollio A, Pellacani G, Guarneri C, Ghiorzo P, Longo C, Bruno W, Giusti F, Bassoli S, Bianchi-Scarrà G, Ruini C, Seidenari S, Tomasi A, Ponti G.
PLoS One 7(8):e43827. doi: 10.1371/journal.pone.0043827. Epub 2012 Aug 27. 2012
18PTCH1, SMO
Subcellular distribution of patched and smoothened in the cerebellar neurons.
Petralia RS, Wang YX, Mattson MP, Yao PJ.
Cerebellum 11(4):972-81. doi: 10.1007/s12311-012-0374-6. 2012
19FANCC, PTCH1
Association of FANCC and PTCH1 with the development of early dysplastic lesions of the head and neck.
Ghosh A, Ghosh S, Maiti GP, Mukherjee S, Mukherjee N, Chakraborty J, Roy A, Roychoudhury S, Panda CK.
Ann Surg Oncol 19 Suppl 3:S528-38. doi: 10.1245/s10434-011-1991-x. Epub 2011 Aug 23. 2012
20GPC5, PTCH1
Glypican-5 stimulates rhabdomyosarcoma cell proliferation by activating Hedgehog signaling.
Li F, Shi W, Capurro M, Filmus J.
J Cell Biol 192(4):691-704. 2011
21APP, PTCH1, SHH, TRI21
APP-dependent up-regulation of Ptch1 underlies proliferation impairment of neural precursors in Down syndrome.
Trazzi S, Mitrugno VM, Valli E, Fuchs C, Rizzi S, Guidi S, Perini G, Bartesaghi R, Ciani E.
Hum Mol Genet 20(8):1560-73. Epub 2011 Jan 25. 2011
22DEL9Q22, DUP9Q, PTCH1
Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features.
Izumi K, Hahn A, Christ L, Curtis C, Neilson DE.
Am J Med Genet A 155(6):1384-9. doi: 10.1002/ajmg.a.33959. Epub 2011 May 12. 2011
23PTCH1, ZNF431
A novel KRAB domain-containing zinc finger transcription factor ZNF431 directly represses Patched1 transcription.
He Z, Cai J, Lim JW, Kroll K, Ma L.
J Biol Chem 286(9):7279-89. Epub 2010 Dec 21. 2011
24NBCCS2, PTCH1
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 409(2):166-70. Epub 2011 Apr 13. 2011
25PTCH1
PTCH1 duplication in a family with microcephaly and mild developmental delay.
Derwiñska K, Smyk M, Cooper ML, Bader P, Cheung SW, Stankiewicz P.
Eur J Hum Genet 17(2):267-71. Epub 2008 Oct 1. 2009
26DEL9Q22, PTCH1
Clinical features of microdeletion 9q22.3 (pat).
Shimojima K, Adachi M, Tanaka M, Tanaka Y, Kurosawa K, Yamamoto T.
Clin Genet 75(4):384-393 2009
27DEL9Q22, PTCH1
Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.
de Ravel TJ, Ameye L, Ballon K, Borghgraef M, Vermeesch JR, Devriendt K.
Eur J Med Genet 52(2-3):145-7. Epub 2009 Feb 21. 2009
28PTCH1, SCUBE2, SHH
Isolation and characterization of a secreted, cell-surface glycoprotein SCUBE2 from humans.
Tsai MT, Cheng CJ, Lin YC, Chen CC, Wu AR, Wu MT, Hsu CC, Yang RB.
Biochem J 422(1):119-28. 2009
29DHH, PTCH1, SMO
Expression of Patched-1 and Smoothened in testicular meiotic and post-meiotic cells.
Morales CR, Fox A, El-Alfy M, Ni X, Argraves WS.
Microsc Res Tech 72(11):809-15. doi: 10.1002/jemt.20733. 2009
30NBCCS2, PTCH1
Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome.
Le Brun Keris Y, Jouk PS, Saada-Sebag G, Roux JJ, Mattei B, Bagait L, Paoloni-Giacobino A, Grandchamp B, Soufir N, Lespinasse J.
Eur J Med Genet 51(5):472-8. Epub 2008 May 2. 2008
31PTCH1, SMO
PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.
Sun LS, Li XF, Li TJ.
J Dent Res 87(6):575-9. 2008
32PTCH1
PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients.
Li TJ, Yuan JW, Gu XM, Sun LS, Zhao HS.
Oral Dis 14(2):174-9. 2008
33PTCH1
Methylation of PTCH1, the Patched-1 gene, in a panel of primary medulloblastomas.
Pritchard JI, Olson JM.
Cancer Genet Cytogenet 180(1):47-50. 2008
34PTCH1
Loss of the PTCH1 gene locus in cardiac fibroma.
Scanlan D, Radio SJ, Nelson M, Zhou M, Streblow R, Prasad V, Reyes C, Perry D, Fletcher S, Bridge JA.
Cardiovasc Pathol 17(2):93-7. Epub 2007 Oct 24.PMID: 18329553 2008
35DEL9Q22, NBCCS2, PTCH1, ROR2
A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.
Nowakowska B, Kutkowska-Kazmierczak A, Stankiewicz P, Bocian E, Obersztyn E, Ou Z, Cheung SW, Cai WW.
Am J Med Genet A 143(16):1885-9. 2007
36PTCH1, SHH
Patched1 regulates hedgehog signaling at the primary cilium.
Rohatgi R, Milenkovic L, Scott MP.
Science 317(5836):372-6. 2007
37PTCH1, SHH
Distinct roles of first exon variants of the tumor-suppressor Patched1 in Hedgehog signaling.
Shimokawa T, Svärd J, Heby-Henricson K, Teglund S, Toftgård R, Zaphiropoulos PG.
Oncogene 26(34):4889-96. Epub 2007 Feb 19. 2007
38PTCH1
New mutation of the PTCH gene in nevoid basal-cell carcinoma syndrome with West syndrome.
Tachi N, Fujii K, Kimura M, Seki K, Hirakai M, Miyashita T.
Pediatr Neurol 37(5):363-5. 2007
39PTCH1
Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation.
Scott A, Strouthidis NG, Robson AG, Forsyth J, Maher ER, Schlottmann PG, Michaelides M.
Am J Ophthalmol 143(2):346-8. Epub 2006 Oct 23. 2007
40DEL9Q22, NBCCS2, PTCH1, ROR2
Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome.
Chen CP, Lin SP, Wang TH, Chen YJ, Chen M, Wang W.
Prenat Diagn 26(8):725-9. 2006
41PTCH1
Mutation in exon 7 of PTCH deregulates SHH/PTCH/SMO signaling: possible linkage to WNT.
Musani V, Gorry P, Basta-Juzbasic A, Stipic T, Miklic P, Levanat S.
Int J Mol Med 17(5):755-9. 2006
42NBCCS2, PTCH1
Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome.
Song YL, Zhang WF, Peng B, Wang CN, Wang Q, Bian Z.
Tumour Biol 27(4):175-80. Epub 2006 May 2. 2006
43PTCH1
PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study.
Soufir N, Gerard B, Portela M, Brice A, Liboutet M, Saiag P, Descamps V, Kerob D, Wolkenstein P, Gorin I, Lebbe C, Dupin N, Crickx B, Basset-Seguin N, Grandchamp B.
Br J Cancer 95(4):548-53. 2006
44PTCH1
Brain- and heart-specific Patched-1 containing exon 12b is a dominant negative isoform and is expressed in medulloblastomas.
Uchikawa H, Toyoda M, Nagao K, Miyauchi H, Nishikawa R, Fujii K, Kohno Y, Yamada M, Miyashita T.
Biochem Biophys Res Commun 349(1):277-83. Epub 2006 Aug 17. 2006
45PTCH1, SMO, SUFU, TP53
Somatic mutations in the PTCH, SMOH, SUFUH and TP53 genes in sporadic basal cell carcinomas.
Reifenberger J, Wolter M, Knobbe CB, Kohler B, Schonicke A, Scharwachter C, Kumar K, Blaschke B, Ruzicka T, Reifenberger G.
Br J Dermatol 152(1):43-51. 2005
46DEL9Q22, NBCCS2, PTCH1, ROR2
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome.
Boonen SE, Stahl D, Kreiborg S, Rosenberg T, Kalscheuer V, Larsen LA, Tommerup N, Brondum-Nielsen K, Tumer Z.
Am J Med Genet A 132(3):324-8. 2005
47PTCH1
Identification and characterization of multiple isoforms of a murine and human tumor suppressor, patched, having distinct first exons.
Nagao K, Toyoda M, Takeuchi-Inoue K, Fujii K, Yamada M, Miyashita T.
Genomics 85(4):462-71. 2005
48PTCH1
Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays.
Nagao K, Togawa N, Fujii K, Uchikawa H, Kohno Y, Yamada M, Miyashita T.
Hum Mol Genet 14(22):3379-88. Epub 2005 Oct 3. 2005
49PTCH1
Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation.
Ragge NK, Salt A, Collin JR, Michalski A, Farndon PA.
Br J Ophthalmol 89(8):988-91. 2005
50PTCH1
Susceptibility to Basal Cell Carcinoma: Associations with PTCH Polymorphisms.
Strange RC, El-Genidy N, Ramachandran S, Lovatt TJ, Fryer AA, Smith AG, Lear JT, Wong C, Jones PW, Ichii-Jones F, Hoban PR.
Ann Hum Genet 68(Pt 6):536-45. 2004
51PTCH1
Candidate regions of tumor suppressor locus on chromosome 9q31.1 in gastric cancer.
Kakinuma N, Kohu K, Sato M, Yamada T, Nakajima M, Akiyama T, Ohwada S, Shibanaka Y.
Int J Cancer 109(1):71-5. 2004
52PTCH1
Identification of a novel polymorphism involving a CGG repeat in the PTCH gene and a genome-wide screening of CGG-containing genes.
Nagao K, Fujii K, Yamada M, Miyashita T.
J Hum Genet 49(2):97-101. Epub 2004 Jan 21. 2004
53PTCH1
Loss of heterozygosity at chromosome 9q22-31 is a frequent and early event in ovarian tumors.
Byrom J, Mudaliar V, Redman CW, Jones P, Strange RC, Hoban PR.
Int J Oncol 24(5):1271-7. 2004
54PTCH1, GLI1, GLI2, GLI3
Expression of the PTCH1 tumor suppressor gene is regulated by alternative promoters and a single functional Gli-binding site.
Agren M, Kogerman P, Kleman MI, Wessling M, Toftgard R.
Gene 330:101-14. 2004
55PTCH1
A novel first exon of the Patched1 gene is upregulated by Hedgehog signaling resulting in a protein with pathway inhibitory functions.
Shimokawa T, Rahnama F, Zaphiropoulos PG.
FEBS Lett 578(1-2):157-62. 2004
56DEL9Q22, PTCH1, ROR2, NPS1
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome.
Midro AT, Panasiuk B, Tumer Z, Stankiewicz P, Silahtaroglu A, Lupski JR, Zemanova Z, Stasiewicz-Jarocka B, Hubert E, Tarasow E, Famulski W, Zadrozna-Tolwinska B, Wasilewska E, Kirchhoff M, Kalscheuer V, Michalova K, Tommerup N.
Am J Med Genet A 124(2):179-91. Review. 2004
57PTCH1
Spectrum of PTCH1 mutations in French patients with Gorlin syndrome.
Boutet N, Bignon YJ, Drouin-Garraud V, Sarda P, Longy M, Lacombe D, Gorry P.
J Invest Dermatol 121(3):478-81. 2003
58DEL9Q22, NBCCS2, PTCH1, ROR2
Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome.
Olivieri C, Maraschio P, Caselli D, Martini C, Beluffi G, Maserati E, Danesino C.
Eur J Pediatr 162(2):100-3. Epub 2002 Dec 10. 2003
59DHCR7, HMGCR, NPC1, PTCH1, PTCH2, SCAP
The sterol-sensing domain: multiple families, a unique role?
Kuwabara PE, Labouesse M.
Trends Genet 18(4):193-201. 2002
60PTCH1
Novel mutations in the PATCHED gene in basal cell nevus syndrome.
Lam CW, Leung CY, Lee KC, Xie J, Lo FM, Au TS, Tong SF, Poon MK, Chan LY, Luk NM.
Mol Genet Metab 76(1):57-61. 2002
61HPE7, PTCH1
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M.
Hum Genet 110(4):297-301. Epub 2002 Mar 02. Erratum in: Hum Genet 2002 Oct;111(4-5):464. 2002
62PTCH1
Alternative first exons of PTCH1 are differentially regulated in vivo and may confer different functions to the PTCH1 protein.
Kogerman P, Krause D, Rahnama F, Kogerman L, Unden AB, Zaphiropoulos PG, Toftgard R.
Oncogene 21(39):6007-16. 2002
63PTCH1
Several PATCHED1 missense mutations display activity in patched1-deficient fibroblasts.
Bailey EC, Milenkovic L, Scott MP, Collawn JF, Johnson RL.
J Biol Chem 277(37):33632-40. Epub 2002 Jun 18. 2002
64PTCH1
Gain of 1q and loss of 9q21.3-q32 are associated with a less favorable prognosis in papillary thyroid carcinoma.
Kjellman P, Lagercrantz S, Hoog A, Wallin G, Larsson C, Zedenius J.
Genes Chromosomes Cancer 32(1):43-9. Review. 2001
65PTCH1
PATCHED and p53 gene alterations in sporadic and hereditary basal cell cancer
Ling G, Ahmadian A, Persson A, Unden AB, Afink G, Williams C, Uhlen M, Toftgard R, Lundeberg J, Ponten F.
Oncogene 20(53):7770-8. 2001
66PTCH1
Loss of a novel tumor suppressor gene locus at chromosome 8p is associated with leukemic mantle cell lymphoma
Martinez-Climent JA, Vizcarra E, Sanchez D, Blesa D, Marugan I, Benet I, Sole F, Rubio-Moscardo F, Terol MJ, Climent J, Sarsotti E, Tormo M, Andreu E, Salido M, Ruiz MA, Prosper F, Siebert R, Dyer MJ, Garcia-Conde J.
Blood 98(12):3479-82. 2001
67PTCH1
Analysis of PTCH/SMO/SHH pathway genes in medulloblastoma.
Zurawel RH, Allen C, Chiappa S, Cato W, Biegel J, Cogen P, de Sauvage F, Raffel C.
Genes Chromosomes Cancer 27(1):44-51 2000
68PTCH1, TSG14B, TSG17A, TSG1C
Novel genomic imbalances in embryonal rhabdomyosarcoma revealed by comparative genomic hybridization and fluorescence in situ hybridization: An intergroup rhabdomyosarcoma study.
Bridge JA, Liu J, Weibolt V, Baker KS, Perry D, Kruger R, Qualman S, Barr F, Sorensen P, Triche T, Suijkerbuijk R.
Genes Chromosomes Cancer 27(4):337-44. 2000
69MFT2, PTCH1
Sporadic trichoepithelioma demonstrates deletions at 9q22.3.
Matt D, Xin H, Vortmeyer AO, Zhuang Z, Burg G, Boni R.
Arch Dermatol 136(5):657-60. 2000
70BRINP1, PTCH1
Four tumor suppressor loci on chromosome 9q in bladder cancer: evidence for two novel candidate regions at 9q22.3 and 9q31.
Simoneau M, et al.
Oncogene 18(1):157-63. 1999
71BRINP1, PTCH1, TSG9A
Superimposed histologic and genetic mapping of chromosome 9 in progression of human urinary bladder neoplasia: implications for a genetic model of multistep urothelial carcinogenesis and early detection of urinary bladder cancer.
Czerniak B, et al.
Oncogene 18(5):1185-96. 1999
72PTCH1, XPC
High levels of patched gene mutations in basal-cell carcinomas from patients with xeroderma pigmentosum.
Bodak N, et al.
Proc Natl Acad Sci U S A 96(9):5117-22. 1999
73PTCH1
Frequent genetic alterations in simple urothelial hyperplasias of the bladder in patients with papillary urothelial carcinoma.
Hartmann A, et al.
Am J Pathol 154(3):721-7. 1999
74NBCCS2, PTCH1
Detection of loss of heterozygosity on chromosome 9q22.3 in microdissected sporadic basal cell carcinoma.
Shen T, et al.
Hum Pathol 30(3):284-7. 1999
75NBCCS2, PTCH1
Overexpression of the human homologue of Drosophila patched (PTCH) in skin tumours: specificity for basal cell carcinoma.
Nagano T, et al.
Br J Dermatol 140(2):287-290. 1999
76PTCH1
The sebaceous nevus: a nevus with deletions of the PTCH gene.
Xin H, et al.
Cancer Res 59(8):1834-6. 1999
77NBCCS2, PTCH1
Deletion analysis of the adenomatous polyposis coli and PTCH gene loci in patients with sporadic and nevoid basal cell carcinoma syndrome-associated medulloblastoma.
Vortmeyer AO, et al.
Cancer 85(12):2662-7. 1999
78PTCH1, TSG9A
Loss of heterozygosity at chromosome 9p21 (INK4-p14ARF locus): homozygous deletions and mutations in the p16 and p14ARF genes in sporadic primary melanomas.
Kumar R, et al.
Melanoma Res 9(2):138-47. 1999
79PTCH1, XPA
Mutation analysis of the human homologue of Drosophila patched and the xeroderma pigmentosum complementation group A genes in squamous cell carcinomas of the skin.
Eklund LK, Lindstrom E, Unden AB, Lundh-Rozell B, Stahle-Backdahl M, Zaphiropoulos PG, Toftgard R, Soderkvist P.
Mol Carcinog 21(2):87-92. 1998
80PTCH1
Dinucleotide repeat polymorphism within the tumor suppressor gene PTCH at 9q22.
Louhelainen J, et al.
Clin Genet 54 : 239-241. 1998
81PTCH1
PTCH gene mutations in invasive transitional cell carcinoma of the bladder.
McGarvey TW, et al.
Oncogene 17 : 1167-1172. 1998
82PTCH1
Genetic instability in the 9q22.3 region is a late event in the development of squamous cell carcinoma.
Ahmadian A, et al.
Oncogene 17 : 1837-1843. 1998
83BRINP1, PTCH1
Allelic loss on chromosome 9q is associated with lymph node metastasis of primary breast cancer.
Minobe K, et al.
Jpn J Cancer Res 89 : 916-922. 1998
84NBCCS2, PTCH1
Variable expressivity of patched mutations in flies and humans.
Bale AE.
Am J Hum Genet 60 : 10-12. 1997
85NBCCS2, PTCH1
Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.
Wicking C, et al.
Am J Hum Genet 60 : 21-26. 1997
86NBCCS2, PTCH1
Sporadic medulloblastomas contain PTCH mutations.
Raffel C, et al.
Cancer Res 57 : 842-845. 1997
87NBCCS2, PTCH1
Physical mapping of the 5 Mb D9S196-D9S180 interval harboring the basal cell nevus syndrome gene and localization of six genes in this region.
Xie J, Quinn A, Zhang X, Bare J, Rothman A, Collins C, Cutone S, Rutter M, McCormick MK, Epstein E Jr.
Genes Chromosomes Cancer 18(4):305-9. 1997
88NBCCS2, PTCH1
Medulloblastomas of the desmoplastic variant carry mutations of the human homologue of Drosophila patched.
Pietsch T, Waha A, Koch A, Kraus J, Albrecht S, Tonn J, Sorensen N, Berthold F, Henk B, Schmandt N, Wolf HK, von Deimling A, Wainwright B, Chenevix-Trench G, Wiestler OD, Wicking C.
Cancer Res 57(11):2085-8. 1997
89PTCH1
Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors.
Xie J, Johnson RL, Zhang X, Bare JW, Waldman FM, Cogen PH, Menon AG, Warren RS, Chen LC, Scott MP, Epstein EH Jr.
Cancer Res 57(12):2369-72. 1997
90NBCCS2, PTCH1
Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system.
Wolter M, Reifenberger J, Sommer C, Ruzicka T, Reifenberger G.
Cancer Res 57(13):2581-5. 1997
91NBCCS2, PTCH1
The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma.
Cowan R, Hoban P, Kelsey A, Birch JM, Gattamaneni R, Evans DG.
Br J Cancer 76(2):141-5. 1997
92NBCCS2, PTCH1
Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome.
Lench NJ, Telford EA, High AS, Markham AF, Wicking C, Wainwright BJ.
Hum Genet 100(5-6):497-502. 1997
93NBCCS2, PTCH1
De novo mutations of the patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype.
Wicking C, Gillies S, Smyth I, Shanley S, Fowles L, Ratcliffe J, Wainwright B, Chenevix-Trench G.
Am J Med Genet 73(3):304-7. 1997
94MSSE, PTCH1, XPA
Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes.
Richards FM, Goudie DR, Cooper WN, Jene Q, Barroso I, Wicking C, Wainwright BJ, Ferguson-Smith MA.
Hum Genet 101(3):317-22. 1997
95BRINP1, NBCCS2, PTCH1
Human homolog of patched, a candidate gene for the basal cell nevus syndrome.
Johnson RL, et al.
Science 272 : 1668-1671. 1996
96BRINP1, NBCCS2, PTCH1
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.
Hahn H, et al.
Cell 85 : 841-851. 1996
97PTCH1, RET
RET proto-oncogene point mutations in sporadic neuroendocrine tumors.
Komminoth P, et al.
J Clin Endocrinol Metab 81 : 2041-2046. 1996
98NBCCS2, PTCH1
Differential allele loss on chromosome 9q22.3 in human non-melanoma skin cancer.
Holmberg E, et al.
Br J Cancer 74 : 246-250. 1996
99NBCCS2, PTCH1
The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas.
Gailani MR, et al.
Nat Genet 14 : 78-81. 1996
100PTCH1
Dual roles for patched in sequestering and transducing Hedgehog.
Chen Y, et al.
Cell 87 : 553-563. 1996
101PTCH1, SMO
The tumour-suppressor gene patched encodes a candidate receptor for sonic hedgehog.
Stone DM, et al.
Nature 384 : 129-134. 1996
102PTCH1
Biochemical evidence that patched is the hedgehog receptor.
Marigo V, et al.
Nature 384 : 176-179. 1996
103BRINP1, GAS1, PTCH1
Evidence for two tumor suppressor loci associated with proximal chromosome 9p to q and distal chromosome 9q in bladder cancer and the initial screening for GAS1 and PTC mutations.
Simoneau AR, et al.
Cancer Res 56 : 5039-5043. 1996
104NBCCS2, PTCH1
Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.
Chidambaram A, et al.
Cancer Res 56 : 4599-4601. 1996
105NBCCS2, PTCH1
Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome : different in vivo mechanisms of PTCH inactivation.
Unden AB, et al.
Cancer Res 56 : 4562-4565. 1996
106NBCCS2, PTCH1
Fine deletion mapping on the long arm of chromosome 9 in sporadic and familial basal cell carcinomas.
Shanley SM, et al.
Hum Mol Genet 4 : 129-133. 1995
107NBCCS2, PTCH1
Parental origin of chromosome 9q22.3-q31 lost in basal cell carcinomas from basal cell nevus syndrome patients.
Bonifas JM, et al.
Hum Mol Genet 3 : 447-448. 1994
108AIM1, PTCH1, TSG6D, TSG9A
Homozygous deletion on chromosome 9p and loss of heterozygosity on 9q, 6p, and 6q in primary human small cell lung cancer.
Merlo A, et al.
Cancer Res 54 : 2322-2326. 1994
109MSSE, NBCCS2, PTCH1, TSG9A
Delineation of two distinct deleted regions on chromosome 9 in human non-melanoma skin cancers.
Quinn AG, et al.
Genes Chromosomes Cancer 11 : 222-225. 1994
110NBCCS2, PTCH1
Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families : linkage and loss of heterozygosity.
Chenevix-Trench G, et al.
Am J Hum Genet 53 : 760-767. 1993