| 1 | PHLS, SMO
|
| Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling
|
| Le TL, Sribudiani Y, Dong X, Huber C, Kois C, Baujat G, Gordon CT, Mayne V, Galmiche L, Serre V, Goudin N, Zarhrate M, Bole-Feysot C, Masson C, Nitschké P, Verheijen FW, Pais L, Pelet A, Sadedin S, Pugh JA, Shur N, White SM, El Chehadeh S, Christodoulou J, Cormier-Daire V, Hofstra RMW, Lyonnet S, Tan TY, Attié-Bitach T, Kerstjens-Frederikse WS, Amiel J, Thomas S
|
| Am J Hum Genet. Jun 4;106(6):779-792. doi: 10.1016/j.ajhg.2020.04.010. Epub 2020 May 14 2020
|
| 2 | PTCH1, 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
|
| 3 | SMO
|
| Compound heterozygous mutations in SMO associated with anterior segment dysgenesis and morning glory syndrome.
|
| Zhang J, Li Y, Fan Y, Wu D, Xu J.
|
| gene Sep 10;713:143973. doi: 10.1016/j.gene.2019.143973. Epub 2019 Jul 10 2019
|
| 4 | HERC4, SMO
|
| HERC4 exerts an anti-tumor role through destabilizing the oncoprotein Smo.
|
| Sun X, Sun B, Cui M, Zhou Z.
|
| Biochem Biophys Res Commun. Jun 11;513(4):1013-1018. doi: 10.1016/j.bbrc.2019.04.113. Epub 2019 Apr 19 2019
|
| 5 | HERC4, SMO
|
| E3 ligase Herc4 regulates Hedgehog signalling through promoting Smoothened degradation.
|
| Jiang W, Yao X, Shan Z, Li W, Gao Y, Zhang Q.
|
| J Mol Cell Biol. Sep 19;11(9):791-803. doi: 10.1093/jmcb/mjz024 2019
|
| 6 | SMO
|
| Hypomorphic Smo mutant with inefficient ciliary enrichment disrupts the highest level of vertebrate Hedgehog response.
|
| Gigante ED, Long AB, Ben-Ami J, Caspary T.
|
| Dev Biol. May 15;437(2):152-162. doi: 10.1016/j.ydbio.2018.03.019. Epub 2018 Mar 20 2018
|
| 7 | PTCH1, 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
|
| 8 | PHLS, SMO
|
| A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases.
|
| Rubino S, Qian J, Pinheiro-Neto CD, Kenning TJ, Adamo MA.
|
| J Neurosurg Pediatr. Oct 12;23(1):98-103. doi: 10.3171/2018.7.PEDS18292 2018
|
| 9 | DYRK1B, SMO
|
| DYRK1B as therapeutic target in Hedgehog/GLI-dependent cancer cells with Smoothened inhibitor resistance.
|
| Gruber W, Hutzinger M, Elmer DP, Parigger T, Sternberg C, Cegielkowski L, Zaja M, Leban J, Michel S, Hamm S, Vitt D, Aberger F.
|
| Oncotarget 7(6):7134-48. doi: 10.18632/oncotarget.6910.
2016
|
| 10 | PTCH1, 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
|
| 11 | SMO
|
| Regulation of Smoothened Trafficking and Hedgehog Signaling by the SUMO Pathway.
|
| Ma G, Li S, Han Y, Li S, Yue T, Wang B, Jiang J.
|
| Dev Cell. Nov 21;39(4):438-451. doi: 10.1016/j.devcel.2016.09.014. Epub 2016 Oct 13 2016
|
| 12 | GLI3, NOTCH1, SMO
|
| A conserved role for Notch signaling in priming the cellular response to Shh through ciliary localisation of the key Shh transducer Smo.
|
| Stasiulewicz M, Gray SD, Mastromina I, Silva JC, Björklund M, Seymour PA, Booth D, Thompson C, Green RJ, Hall EA, Serup P, Dale JK.
|
| Development 142(13):2291-303. doi: 10.1242/dev.125237. Epub 2015 May 20.
2015
|
| 13 | SMO
|
| Regulation of the oncoprotein Smoothened by small molecules.
|
| Sharpe HJ, Wang W, Hannoush RN, de Sauvage FJ.
|
| Nat Chem Biol 11(4):246-55. doi: 10.1038/nchembio.1776. Review.
2015
|
| 14 | DLG5, SMO
|
| Bifurcating action of Smoothened in Hedgehog signaling is mediated by Dlg5.
|
| Chong YC, Mann RK, Zhao C, Kato M, Beachy PA.
|
| Genes Dev 29(3):262-76. doi: 10.1101/gad.252676.114.
2015
|
| 15 | PTCH1, 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
|
| 16 | SMO
|
| A role for smoothened during murine lens and cornea development.
|
| Choi JJ, Ting CT, Trogrlic L, Milevski SV, Familari M, Martinez G, de Iongh RU.
|
| PLoS One 9(9):e108037. doi: 10.1371/journal.pone.0108037. eCollection 2014.
2014
|
| 17 | EVC, EVC2, GLI3, SMO
|
| The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.
|
| Caparrós-Martín JA, Valencia M, Reytor E, Pacheco M, Fernandez M, Perez-Aytes A, Gean E, Lapunzina P, Peters H, Goodship JA, Ruiz-Perez VL.
|
| Hum Mol Genet 22(1):124-39. doi: 10.1093/hmg/dds409. Epub 2012 Oct 1. 2013
|
| 18 | AKT1, SMO
|
| Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations.
|
| Brastianos PK, Horowitz PM, Santagata S, Jones RT, McKenna A, Getz G, Ligon KL, Palescandolo E, Van Hummelen P, Ducar MD, Raza A, Sunkavalli A, Macconaill LE, Stemmer-Rachamimov AO, Louis DN, Hahn WC, Dunn IF, Beroukhim R.
|
| Nat Genet 45(3):285-9. doi: 10.1038/ng.2526. Epub 2013 Jan 20.
2013
|
| 19 | CARD11, SMO
|
| Trimeric G protein-CARMA1 axis links smoothened, the hedgehog receptor transducer, to NF-κB activation in diffuse large B-cell lymphoma.
|
| Qu C, Liu Y, Kunkalla K, Singh RR, Blonska M, Lin X, Agarwal NK, Vega F.
|
| Blood 121(23):4718-28. doi: 10.1182/blood-2012-12-470153. Epub 2013 Apr 30.
2013
|
| 20 | CCND2, SMO
|
| Smoothened controls cyclin D2 expression and regulates the generation of intermediate progenitors in the developing cortex.
|
| Komada M, Iguchi T, Takeda T, Ishibashi M, Sato M.
|
| Neurosci Lett 547:87-91. doi: 10.1016/j.neulet.2013.05.006. Epub 2013 May 13.
2013
|
| 21 | SMO
|
| Structure and function of the Smoothened extracellular domain in vertebrate Hedgehog signaling.
|
| Nachtergaele S, Whalen DM, Mydock LK, Zhao Z, Malinauskas T, Krishnan K, Ingham PW, Covey DF, Siebold C, Rohatgi R.
|
| Elife 2:e01340. doi: 10.7554/eLife.01340.
2013
|
| 22 | SMO, VPS36
|
| Drosophila Vps36 regulates Smo trafficking in Hedgehog signaling.
|
| Yang X, Mao F, Lv X, Zhang Z, Fu L, Lu Y, Wu W, Zhou Z, Zhang L, Zhao Y.
|
| J Cell Sci 126(Pt 18):4230-8. doi: 10.1242/jcs.128603. Epub 2013 Jul 10.
2013
|
| 23 | SMO
|
| The extracellular loops of Smoothened play a regulatory role in control of Hedgehog pathway activation.
|
| Carroll CE, Marada S, Stewart DP, Ouyang JX, Ogden SK.
|
| Development 139(3):612-21. doi: 10.1242/dev.075614. Erratum in: Development. 2012 Feb;139(4):827.
2012
|
| 24 | SMO
|
| Small molecule inhibitors of Smoothened ciliary localization and ciliogenesis.
|
| Wu VM, Chen SC, Arkin MR, Reiter JF.
|
| Proc Natl Acad Sci U S A 109(34):13644-9. doi: 10.1073/pnas.1207170109. Epub 2012 Aug 3.
2012
|
| 25 | SMO, USP8
|
| USP8 promotes smoothened signaling by preventing its ubiquitination and changing its subcellular localization.
|
| Xia R, Jia H, Fan J, Liu Y, Jia J.
|
| PLoS Biol 10(1):e1001238. doi: 10.1371/journal.pbio.1001238. Epub 2012 Jan 10.
2012
|
| 26 | PTCH1, 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
|
| 27 | BARX1, CDH2, CNTFR, EPHA5, GPR101, GSPT2, KCNK12, SMO
|
| Methyl-CpG binding column-based identification of nine genes hypermethylated in colorectal cancer.
|
| Kober P, Bujko M, Olędzki J, Tysarowski A, Siedlecki JA.
|
| Mol Carcinog 50(11):846-56. doi: 10.1002/mc.20763. Epub 2011 Mar 22.
2011
|
| 28 | SMO
|
| Overexpression of smoothened activates the sonic hedgehog signaling pathway in pancreatic cancer-associated fibroblasts.
|
| Walter K, Omura N, Hong SM, Griffith M, Vincent A, Borges M, Goggins M.
|
| Clin Cancer Res 16(6):1781-9. doi: 10.1158/1078-0432.CCR-09-1913. Epub 2010 Mar 9.
2010
|
| 29 | SMO
|
| Smoothened as a new therapeutic target for human osteosarcoma.
|
| Hirotsu M, Setoguchi T, Sasaki H, Matsunoshita Y, Gao H, Nagao H, Kunigou O, Komiya S.
|
| Mol Cancer 9:5. doi: 10.1186/1476-4598-9-5.
2010
|
| 30 | NUMB, SMO
|
| Hedgehog signalling is essential for maintenance of cancer stem cells in myeloid leukaemia.
|
| Zhao C, Chen A, Jamieson CH, Fereshteh M, Abrahamsson A, Blum J, Kwon HY, Kim J, Chute JP, Rizzieri D, Munchhof M, VanArsdale T, Beachy PA, Reya T.
|
| Nature 458(7239):776-9.
2009
|
| 31 | SMO
|
| Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma.
|
| Yauch RL, Dijkgraaf GJ, Alicke B, Januario T, Ahn CP, Holcomb T, Pujara K, Stinson J, Callahan CA, Tang T, Bazan JF, Kan Z, Seshagiri S, Hann CL, Gould SE, Low JA, Rudin CM, de Sauvage FJ.
|
| Science 326(5952):572-4. Epub 2009 Sep 2.PMID: 19726788 2009
|
| 32 | DHH, 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
|
| 33 | PTCH1, SMO
|
| PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.
|
| Sun LS, Li XF, Li TJ.
|
| J Dent Res 87(6):575-9.
2008
|
| 34 | GLI1, KIF3A, SMO
|
| Beta-arrestin-mediated localization of smoothened to the primary cilium.
|
| Kovacs JJ, Whalen EJ, Liu R, Xiao K, Kim J, Chen M, Wang J, Chen W, Lefkowitz RJ.
|
| Science 320(5884):1777-81. Epub 2008 May 22. 2008
|
| 35 | HHIP, SMO
|
| Hhip regulates zebrafish muscle development by both sequestering Hedgehog and modulating localization of Smoothened.
|
| Ochi H, Pearson BJ, Chuang PT, Hammerschmidt M, Westerfield M.
|
| Dev Biol 297(1):127-40. Epub 2006 May 6.
2006
|
| 36 | PTCH1, 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
|
| 37 | SMO
|
| Vertebrate Smoothened functions at the primary cilium.
|
| Corbit KC, Aanstad P, Singla V, Norman AR, Stainier DY, Reiter JF.
|
| Nature 437(7061):1018-21. Epub 2005 Aug 31. 2005
|
| 38 | DHH, IHH, SHH, SMO
|
| A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis.
|
| Cooper MK, Wassif CA, Krakowiak PA, Taipale J, Gong R, Kelley RI, Porter FD, Beachy PA.
|
| Nat Genet 33(4):508-13. Erratum in: Nat Genet. 2003 May;34(1):113. 2003
|
| 39 | IHH, SHH, SMO
|
| Smoothened mutants reveal redundant roles for Shh and Ihh signaling including regulation of L/R asymmetry by the mouse node.
|
| Zhang XM, Ramalho-Santos M, McMahon AP.
|
| Cell 105(6):781-92. Corrected and republished in: Cell. 2001 Jul 27;106(2):781-92. 2001
|
| 40 | SMO
|
| Activating Smoothened mutations in sporadic basal-cell carcinoma.
|
| Xie J, Murone M, Luoh SM, Ryan A, Gu Q, Zhang C, Bonifas JM, Lam CW, Hynes M, Goddard A, Rosenthal A, Epstein EH Jr, de Sauvage FJ.
|
| Nature 391(6662):90-2. 1998
|
| 41 | SMO
|
| Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system.
|
| Reifenberger J, et al.
|
| Cancer Res 58 : 1798-1803. 1998
|
| 42 | SMO
|
| Chromosomal localization of the human smoothened gene (SMOH) to 7q32.3 by fluorescence in situ hybridization and radiation hybrid mapping.
|
| Sublett JE, et al.
|
| Genomics 50 : 112-114. 1998
|
| 43 | SMO
|
| Chromosomal localization of the human and murine orthologues of the Drosophila smoothened gene.
|
| Chidambaram A, et al.
|
| Genomics 53 : 416-417. 1998
|
| 44 | PTCH1, SMO
|
| The tumour-suppressor gene patched encodes a candidate receptor for sonic hedgehog.
|
| Stone DM, et al.
|
| Nature 384 : 129-134. 1996
|