| 1 | FCDBC, FCDBC2, FCDBC3, MTOR, TSC1, TSC2
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| Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.
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| Lim JS, Gopalappa R, Kim SH, Ramakrishna S, Lee M, Kim WI, Kim J, Park SM, Lee J, Oh JH, Kim HD, Park CH, Lee JS, Kim S, Kim DS, Han JM, Kang HC, Kim HH, Lee JH.
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| Am J Hum Genet 100(3):454-472. doi: 10.1016/j.ajhg.2017.01.030. Epub 2017 Feb 16.
2017
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| 2 | TSC1, TSC2
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| Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins.
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| Wong HT, McCartney DL, Lewis JC, Sampson JR, Howe CJ, de Vries PJ.
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| J Med Genet Med Genet. 2015 Sep 25. pii: jmedgenet-2015-103154. doi: 10.1136/jmedgenet-2015-103154. [Epub ahead of print]
2015
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| 3 | TSC1, TSC2
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| Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex.
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| Sundberg M, Sahin M.
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| J Child Neurol Child Neurol. 2015 Aug 24. pii: 0883073815600870. [Epub ahead of print]
2015
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| 4 | TSC1, TSC2
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| Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.
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| Nellist M, Brouwer RW, Kockx CE, van Veghel-Plandsoen M, Withagen-Hermans C, Prins-Bakker L, Hoogeveen-Westerveld M, Mrsic A, van den Berg MM, Koopmans AE, de Wit MC, Jansen FE, Maat-Kievit AJ, van den Ouweland A, Halley D, de Klein A, van IJcken WF.
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| BMC Med Genet 16:10. doi: 10.1186/s12881-015-0155-4.
2015
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| 5 | TBC1D7, TSC1, TSC2
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| Spatial control of the TSC complex integrates insulin and nutrient regulation of mTORC1 at the lysosome.
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| Menon S, Dibble CC, Talbott G, Hoxhaj G, Valvezan AJ, Takahashi H, Cantley LC, Manning BD.
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| Cell 156(4):771-85. doi: 10.1016/j.cell.2013.11.049.
2014
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| 6 | TSC1, TSC2
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| Tumor suppressors TSC1 and TSC2 differentially modulate actin cytoskeleton and motility of mouse embryonic fibroblasts.
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| Goncharova EA, James ML, Kudryashova TV, Goncharov DA, Krymskaya VP.
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| PLoS One 9(10):e111476. doi: 10.1371/journal.pone.0111476. eCollection 2014. Erratum in: PLoS One. 2015;10(3):e0118637.
2014
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| 7 | MTOR, TSC1, TSC2
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| Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1.
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| Di Nardo A, Wertz MH, Kwiatkowski E, Tsai PT, Leech JD, Greene-Colozzi E, Goto J, Dilsiz P, Talos DM, Clish CB, Kwiatkowski DJ, Sahin M.
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| Hum Mol Genet 23(14):3865-74. doi: 10.1093/hmg/ddu101. Epub 2014 Mar 5.
2014
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| 8 | TSC1, TSC2
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| Tuberous sclerosis 1 promotes invariant NKT cell anergy and inhibits invariant NKT cell-mediated antitumor immunity.
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| Wu J, Shin J, Xie D, Wang H, Gao J, Zhong XP.
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| J Immunol 192(6):2643-50. doi: 10.4049/jimmunol.1302076. Epub 2014 Feb 14.
2014
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| 9 | EREG, TSC2
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| Evidence that TSC2 acts as a transcription factor and binds to and represses the promoter of Epiregulin.
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| Pradhan SA, Rather MI, Tiwari A, Bhat VK, Kumar A.
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| Nucleic Acids Res 42(10):6243-55. doi: 10.1093/nar/gku278. Epub 2014 Apr 19.
2014
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| 10 | FBXW5, TSC2
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| Tnfaip8 l1/Oxi-β binds to FBXW5, increasing autophagy through activation of TSC2 in a Parkinson's disease model.
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| Ha JY, Kim JS, Kang YH, Bok E, Kim YS, Son JH.
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| J Neurochem 129(3):527-38. doi: 10.1111/jnc.12643.
2014
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| 11 | PCTP, THEM2, TSC2
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| Phosphatidylcholine transfer protein interacts with thioesterase superfamily member 2 to attenuate insulin signaling.
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| Ersoy BA, Tarun A, D'Aquino K, Hancer NJ, Ukomadu C, White MF, Michel T, Manning BD, Cohen DE.
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| Sci Signal 6(286):ra64. doi: 10.1126/scisignal.2004111.
2013
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| 12 | TBC1D7, TSC1, TSC2
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| TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1.
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| Dibble CC, Elis W, Menon S, Qin W, Klekota J, Asara JM, Finan PM, Kwiatkowski DJ, Murphy LO, Manning BD.
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| Mol Cell 47(4):535-46. doi: 10.1016/j.molcel.2012.06.009. Epub 2012 Jul 12.
2012
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| 13 | TSC1, TSC2
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| Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex.
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| Jang MA, Hong SB, Lee JH, Lee MH, Chung MP, Shin HJ, Kim JW, Ki CS.
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| Pediatr Neurol 46(4):222-4. doi: 10.1016/j.pediatrneurol.2012.02.002.
2012
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| 14 | AKT1S1, TSC2
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| Tuberin and PRAS40 are anti-apoptotic gatekeepers during early human amniotic fluid stem-cell differentiation.
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| Fuchs C, Rosner M, Dolznig H, Mikula M, Kramer N, Hengstschläger M.
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| Hum Mol Genet 21(5):1049-61. doi: 10.1093/hmg/ddr535. Epub 2011 Nov 16.
2012
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| 15 | TSC1, TSC2
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| The TSC1 and TSC2 tumor suppressors are required for proper ER stress response and protect cells from ER stress-induced apoptosis.
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| Kang YJ, Lu MK, Guan KL.
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| Cell Death Differ. 18(1):133-44. 2011
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| 16 | TSC1, TSC2
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| TSC1/TSC2 signaling in the CNS.
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| Han JM, Sahin M.
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| FEBS Lett 585(7):973-80. Epub 2011 Feb 15. Review.
2011
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| 17 | PIK3R1, TSC2
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| A systematic study of gene mutations in urothelial carcinoma; inactivating mutations in TSC2 and PIK3R1.
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| Sjödahl G, Lauss M, Gudjonsson S, Liedberg F, Halldén C, Chebil G, Månsson W, Höglund M, Lindgren D.
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| PLoS One 6(4):e18583.
2011
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| 18 | CCNB1, TSC2
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| The tumor suppressor tuberin regulates mitotic onset through the cellular localization of cyclin B1.
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| Fidalgo da Silva E, Ansari SB, Maimaiti J, Barnes EA, Kong-Beltran M, Donoghue DJ, Porter LA.
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| Cell Cycle 10(18):3129-39. Epub 2011 Sep 15.
2011
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| 19 | FMR1, TSC1, TSC2
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| Mutations causing syndromic autism define an axis of synaptic pathophysiology.
|
| Auerbach BD, Osterweil EK, Bear MF.
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| Nature 480(7375):63-8. doi: 10.1038/nature10658.
2011
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| 20 | TSC2
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| Tuberous sclerosis complex 2 (TSC2) regulates cell migration and polarity through activation of CDC42 and RAC1.
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| Larson Y, Liu J, Stevens PD, Li X, Li J, Evers BM, Gao T.
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| J Biol Chem 285(32):24987-98. Epub 2010 Jun 8.PMID: 20530489 2010
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| 21 | TSC1, TSC2
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| Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
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| Nellist M, van den Heuvel D, Schluep D, Exalto C, Goedbloed M, Maat-Kievit A, van Essen T, van Spaendonck-Zwarts K, Jansen F, Helderman P, Bartalini G, Vierimaa O, Penttinen M, van den Ende J, van den Ouweland A, Halley D.
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| Eur J Hum Genet 17(3):319-28. Epub 2008 Oct 1. 2009
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| 22 | TSC1, TSC2
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| The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway.
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| Hartman TR, Liu D, Zilfou JT, Robb V, Morrison T, Watnick T, Henske EP.
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| Hum Mol Genet 18(1):151-63. Epub 2008 Oct 9.
2009
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| 23 | MTOR, TSC1, TSC2
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| Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatment.
|
| Inoki K, Guan KL.
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| Hum Mol Genet 18(R1):R94-100. Review.
2009
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| 24 | TSC2
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| A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles.
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| Pollizzi K, Malinowska-Kolodziej I, Doughty C, Betz C, Ma J, Goto J, Kwiatkowski DJ.
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| Hum Mol Genet 18(13):2378-87. Epub 2009 Apr 8.
2009
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| 25 | HIF1A, PTEN, TSC2
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| TSC2 deficiency increases PTEN via HIF1alpha.
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| Mahimainathan L, Ghosh-Choudhury N, Venkatesan B, Das F, Mandal CC, Dey N, Habib SL, Kasinath BS, Abboud HE, Ghosh Choudhury G.
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| J Biol Chem 284(41):27790-8. Epub 2009 Jul 31.PMID: 19648120 2009
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| 26 | TSC2
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| Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.
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| Le Caignec C, Kwiatkowski DJ, Küry S, Hardouin JB, Melki J, David A.
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| Eur J Hum Genet 17(9):1165-70. Epub 2009 Mar 4.PMID: 1925913 2009
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| 27 | MTOR, PKD, PKD1, TSC2
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| Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1.
|
| Zhou J, Brugarolas J, Parada LF.
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| Hum Mol Genet 18(22):4428-41. Epub 2009 Aug 19.PMID: 19692352 2009
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| 28 | TSC2
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| Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse.
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| Way SW, McKenna J 3rd, Mietzsch U, Reith RM, Wu HC, Gambello MJ.
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| Hum Mol Genet. 18(7):1252-65. 2009
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| 29 | TSC2
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| Tuberous sclerosis complex 2 loss-of-function mutation regulates reactive oxygen species production through Rac1 activation.
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| Suzuki T, Das SK, Inoue H, Kazami M, Hino O, Kobayashi T, Yeung RS, Kobayashi K, Tadokoro T, Yamamoto Y.
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| Biochem Biophys Res Commun 368(1):132-7. Epub 2008 Jan 28. 2008
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| 30 | TSC1, TSC2
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| Tuberous sclerosis complex proteins control axon formation.
|
| Choi YJ, Di Nardo A, Kramvis I, Meikle L, Kwiatkowski DJ, Sahin M, He X.
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| Genes Dev 22(18):2485-95.
2008
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| 31 | MTOR, TSC1, TSC2
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| The TSC1-TSC2 complex is required for proper activation of mTOR complex 2.
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| Huang J, Dibble CC, Matsuzaki M, Manning BD.
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| Mol Cell Biol 28(12):4104-15. Epub 2008 Apr 14.
2008
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| 32 | CUL4A, DDB1, FBXW5, RBX1, TSC1, TSC2
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| WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase.
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| Hu J, Zacharek S, He YJ, Lee H, Shumway S, Duronio RJ, Xiong Y.
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| Genes Dev 22(7):866-71. 2008
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| 33 | TSC1, TSC2
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| Loss of the tuberous sclerosis complex tumor suppressors triggers the unfolded protein response to regulate insulin signaling and apoptosis.
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| Ozcan U, Ozcan L, Yilmaz E, Düvel K, Sahin M, Manning BD, Hotamisligil GS.
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| Mol Cell 29(5):541-51.PMID: 18342602 2008
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| 34 | TSC1, TSC2
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| The TSC1-TSC2 complex: a molecular switchboard controlling cell growth.
|
| Huang J, Manning BD.
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| Biochem J 412(2):179-90. Review.PMID: 18466115 2008
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| 35 | TSC2
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| Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis.
|
| Ehninger D, Han S, Shilyansky C, Zhou Y, Li W, Kwiatkowski DJ, Ramesh V, Silva AJ.
|
| Nat Med. 14(8):843-8. 2008
|
| 36 | TSC1,TSC2
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| Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.
|
| Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska-Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ.
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| Hum Genet 121(3-4):389-400. Epub 2007 Feb 8. 2007
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| 37 | CDKN1B,TSC2
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| p27Kip1 localization depends on the tumor suppressor protein tuberin.
|
| Rosner M, Freilinger A, Hanneder M, Fujita N, Lubec G, Tsuruo T, Hengstschlager M.
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| Hum Mol Genet 16(13):1541-56. Epub 2007 Apr 30. 2007
|
| 38 | TBC1D7, TSC1, TSC2
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| Identification of TBC7 having TBC domain as a novel binding protein to TSC1-TSC2 complex.
|
| Nakashima A, Yoshino K, Miyamoto T, Eguchi S, Oshiro N, Kikkawa U, Yonezawa K.
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| Biochem Biophys Res Commun 361(1):218-23. Epub 2007 Jul 16. 2007
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| 39 | TSC1, TSC2, PLK1
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| Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner.
|
| Astrinidis A, Senapedis W, Henske EP.
|
| Hum Mol Genet 15(2):287-97. Epub 2005 Dec 8. 2006
|
| 40 | MTOR, PKD, PKD1, TSC2
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| The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease.
|
| Shillingford JM, Murcia NS, Larson CH, Low SH, Hedgepeth R, Brown N, Flask CA, Novick AC, Goldfarb DA, Kramer-Zucker A, Walz G, Piontek KB, Germino GG, Weimbs T.
|
| Proc Natl Acad Sci U S A 103(14):5466-71. Epub 2006 Mar 27. 2006
|
| 41 | TSC2
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| TSC2 integrates Wnt and energy signals via a coordinated phosphorylation by AMPK and GSK3 to regulate cell growth.
|
| Inoki K, Ouyang H, Zhu T, Lindvall C, Wang Y, Zhang X, Yang Q, Bennett C, Harada Y, Stankunas K, Wang CY, He X, MacDougald OA, You M, Williams BO, Guan KL.
|
| Cell 126(5):955-68. 2006
|
| 42 | TSC1, TSC2, HERC1
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| TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase.
|
| Chong-Kopera H, Inoki K, Li Y, Zhu T, Garcia-Gonzalo FR, Rosa JL, Guan KL.
|
| J Biol Chem 281(13):8313-6. Epub 2006 Feb 7. 2006
|
| 43 | BAD, TSC2
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| Tuberin activates the proapoptotic molecule BAD.
|
| Freilinger A, Rosner M, Krupitza G, Nishino M, Lubec G, Korsmeyer SJ, Hengstschläger M.
|
| Oncogene 25(49):6467-79. Epub 2006 May 15.
2006
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| 44 | PTK2, TSC2
|
| Association of focal adhesion kinase with tuberous sclerosis complex 2 in the regulation of s6 kinase activation and cell growth.
|
| Gan B, Yoo Y, Guan JL.
|
| J Biol Chem. 281(49):37321-9. 2006
|
| 45 | TSC2
|
| Interaction of FoxO1 and TSC2 induces insulin resistance through activation of the mammalian target of rapamycin/p70 S6K pathway.
|
| Cao Y, Kamioka Y, Yokoi N, Kobayashi T, Hino O, Onodera M, Mochizuki N, Nakae J.
|
| J Biol Chem. 281(52):40242-51. 2006
|
| 46 | TSC1, TSC2
|
| Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.
|
| Nellist M, Sancak O, Goedbloed MA, Rohe C, van Netten D, Mayer K, Tucker-Williams A, van den Ouweland AM, Halley DJ.
|
| Eur J Hum Genet 13(1):59-68. 2005
|
| 47 | EPHB2, MAPK1, TSC1, TSC2
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| Phosphorylation and functional inactivation of TSC2 by Erk implications for tuberous sclerosis and cancer pathogenesis.
|
| Ma L, Chen Z, Erdjument-Bromage H, Tempst P, Pandolfi PP.
|
| Cell 121(2):179-93. 2005
|
| 48 | TSC1, TSC2
|
| Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
|
| Sancak O, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-Kievit A, Zonnenberg B, Verhoef S, Halley D, van den Ouweland A.
|
| Eur J Hum Genet 13(6):731-41. 2005
|
| 49 | TSC1, TSC2
|
| Tuberin and hamartin are aberrantly expressed and linked to clinical outcome in human breast cancer: the role of promoter methylation of TSC genes.
|
| Jiang WG, Sampson J, Martin TA, Lee-Jones L, Watkins G, Douglas-Jones A, Mokbel K, Mansel RE.
|
| Eur J Cancer 41(11):1628-36. 2005
|
| 50 | DOCK7, TSC1, TSC2
|
| Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.
|
| Nellist M, Burgers PC, van den Ouweland AM, Halley DJ, Luider TM.
|
| Biochem Biophys Res Commun. 333(3):818-26. 2005
|
| 51 | PKD, PKD1, PKTS, TSC2
|
| Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant.
|
| Laass MW, Spiegel M, Jauch A, Hahn G, Rupprecht E, Vogelberg C, Bartsch O, Huebner A.
|
| Pediatr Nephrol 19(6):602-8. Epub 2004 Mar 9. 2004
|
| 52 | TSC2
|
| Tuberous sclerosis complex 2 gene product interacts with human SMAD proteins. A molecular link of two tumor suppressor pathways.
|
| Birchenall-Roberts MC, Fu T, Bang OS, Dambach M, Resau JH, Sadowski CL, Bertolette DC, Lee HJ, Kim SJ, Ruscetti FW.
|
| J Biol Chem 279(24):25605-13. Epub 2004 Apr 2. 2004
|
| 53 | TSC2, SKP2, CDKN1B
|
| Tuberin binds p27 and negatively regulates its interaction with the SCF component Skp2.
|
| Rosner M, Hengstschlager M.
|
| J Biol Chem 279(47):48707-15. Epub 2004 Sep 8. 2004
|
| 54 | MTOR, TSC1, TSC2
|
| Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.
|
| Chan JA, Zhang H, Roberts PS, Jozwiak S, Wieslawa G, Lewin-Kowalik J, Kotulska K, Kwiatkowski DJ.
|
| J Neuropathol Exp Neurol 63(12):1236-42. 2004
|
| 55 | TSC1, TSC2
|
| Pam and its ortholog highwire interact with and may negatively regulate the TSC1.TSC2 complex.
|
| Murthy V, Han S, Beauchamp RL, Smith N, Haddad LA, Ito N, Ramesh V.
|
| J Biol Chem. 279(2):1351-8. 2004
|
| 56 | TSC1, TSC2
|
| TSC2 mediates cellular energy response to control cell growth and survival.
|
| Inoki K, Zhu T, Guan KL.
|
| Cell 115(5):577-90. 2003
|
| 57 | RHEB, TSC1, TSC2
|
| Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 kinase activation in a rapamycin- and farnesylation-dependent manner.
|
| Castro AF, Rebhun JF, Clark GJ, Quilliam LA.
|
| J Biol Chem 278(35):32493-6. Epub 2003 Jul 03. 2003
|
| 58 | RHEB, TSC2
|
| Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling.
|
| Inoki K, Li Y, Xu T, Guan KL.
|
| Genes Dev 17(15):1829-34. Epub 2003 Jul 17. 2003
|
| 59 | PCNA, CHAF1A, TSC1, TSC2
|
| Regulation of PCNA and CAF-1 expression by the two tuberous sclerosis gene products.
|
| Hengstschlager M, Rosner M, Fountoulakis M, Lubec G.
|
| Biochem Biophys Res Commun 307(3):737-42. 2003
|
| 60 | FKBP8, TSC1, TSC2
|
| Cell size regulation by the human TSC tumor suppressor proteins depends on PI3K and FKBP38.
|
| Rosner M, Hofer K, Kubista M, Hengstschlager M.
|
| Oncogene 22(31):4786-98. 2003
|
| 61 | TSC2
|
| Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.
|
| Dabora SL, Roberts P, Nieto A, Perez R, Jozwiak S, Franz D, Bissler J, Thiele EA, Sims K, Kwiatkowski DJ.
|
| Am J Hum Genet 71(4):750-8. 2002
|
| 62 | TSC1, TSC2
|
| Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.
|
| Sato T, Seyama K, Fujii H, Maruyama H, Setoguchi Y, Iwakami S, Fukuchi Y, Hino O.
|
| J Hum Genet 47(1):20-8. 2002
|
| 63 | HMGA2, TSC2
|
| Aberrant expression of HMGA2 in uterine leiomyoma associated with loss of TSC2 tumor suppressor gene function.
|
| Hunter DS, Klotzbucher M, Kugoh H, Cai SL, Mullen JP, Manfioletti G, Fuhrman U, Walker CL.
|
| Cancer Res 62(13):3766-72. 2002
|
| 64 | YWHAZ, TSC1, TSC2
|
| Identification and characterization of the interaction between tuberin and 14-3-3zeta.
|
| Nellist M, Goedbloed MA, de Winter C, Verhaaf B, Jankie A, Reuser AJ, van den Ouweland AM, van der Sluijs P, Halley DJ.
|
| J Biol Chem 277(42):39417-24. Epub 2002 Aug 09. 2002
|
| 65 | NEFL, TSC1, TSC2
|
| The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeleton.
|
| Haddad LA, Smith N, Bowser M, Niida Y, Murthy V, Gonzalez-Agosti C, Ramesh V.
|
| J Biol Chem 277(46):44180-6. Epub 2002 Sep 10. 2002
|
| 66 | PKD, PKD1, PKTS, TSC2
|
| Renal disease in adults with TSC2/PKD1 contiguous gene syndrome.
|
| Martignoni G, Bonetti F, Pea M, Tardanico R, Brunelli M, Eble JN.
|
| Am J Surg Pathol 26(2):198-205. 2002
|
| 67 | TSC1, TSC2
|
| Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin.
|
| Dan HC, Sun M, Yang L, Feldman RI, Sui XM, Ou CC, Nellist M, Yeung RS, Halley DJ, Nicosia SV, Pledger WJ, Cheng JQ.
|
| J Biol Chem. 277(38):35364-70. 2002
|
| 68 | TSC2
|
| A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.
|
| Khare L, Strizheva GD, Bailey N, Au KS, Northrup H, Smith M, Smalley SL, Henske EP.
|
| J Med Genet 38 : 347-349. 2001
|
| 69 | TSC1, TSC2
|
| The Drosophila tuberous sclerosis complex gene homologs restrict cell growth and cell proliferation.
|
| Tapon N, Ito N, Dickson BJ, Treisman JE, Hariharan IK.
|
| Cell 105(3):345-55. 2001
|
| 70 | TSC1, TSC2
|
| Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.
|
| Niida Y, Stemmer-Rachamimov AO, Logrip M, Tapon D, Perez R, Kwiatkowski DJ, Sims K, MacCollin M, Louis DN, Ramesh V.
|
| Am J Hum Genet 69(3):493-503. 2001
|
| 71 | TSC1, TSC2
|
| Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin.
|
| Hodges AK, Li S, Maynard J, Parry L, Braverman R, Cheadle JP, DeClue JE, Sampson JR.
|
| Hum Mol Genet 10(25):2899-905. 2001
|
| 72 | TSC2
|
| TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.
|
| Nellist M, Verhaaf B, Goedbloed MA, Reuser AJ, van den Ouweland AM, Halley DJ.
|
| Hum Mol Genet 10(25):2889-98. 2001
|
| 73 | TSC1, TSC2
|
| Tuberin phosphorylation regulates its interaction with hamartin. Two proteins involved in tuberous sclerosis.
|
| Aicher LD, Campbell JS, Yeung RS.
|
| J Biol Chem 276(24):21017-21. 2001
|
| 74 | CDK1, TSC1, TSC2
|
| Hamartin and tuberin interaction with the G2/M cyclin-dependent kinase CDK1 and its regulatory cyclins A and B.
|
| Catania MG, Mischel PS, Vinters HV.
|
| J Neuropathol Exp Neurol. 60(7):711-23. 2001
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| 75 | TSC2
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| Tuberin-dependent membrane localization of polycystin-1: a functional link between polycystic kidney disease and the TSC2 tumor suppressor gene.
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| Kleymenova E, Ibraghimov-Beskrovnaya O, Kugoh H, Everitt J, Xu H, Kiguchi K, Landes G, Harris P, Walker C.
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| Mol Cell 7(4):823-32. 2001
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| 76 | TSC2, TSC1
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| Expression of the tuberous sclerosis complex gene products, hamartin and tuberin, in central nervous system tissues.
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| Gutmann DH, Zhang Y, Hasbani MJ, Goldberg MP, Plank TL, Petri Henske E.
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| Acta Neuropathol (Berl) 99(3):223-30. 2000
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| 77 | TSC2, TSC1
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| The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho.
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| Lamb RF, Roy C, Diefenbach TJ, Vinters HV, Johnson MW, Jay DG, Hall A.
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| Nat Cell Biol 2(5):281-7. 2000
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| 78 | TSC1, TSC2
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| Molecular genetic advances in tuberous sclerosis.
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| Cheadle JP, Reeve MP, Sampson JR, Kwiatkowski DJ.
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| Hum Genet 107(2):97-114. 2000
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| 79 | TSC2
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| Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination.
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| Dabora SL, Nieto AA, Franz D, Jozwiak S, Van Den Ouweland A, Kwiatkowski DJ.
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| J Med Genet 37(11):877-83. No abstract available. 2000
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| 80 | TSC2
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| Gigas, a Drosophila homolog of tuberous sclerosis gene product-2, regulates the cell cycle.
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| Ito N, et al.
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| Cell 96 : 529-539. 1999
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| 81 | TSC1, TSC2
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| Germ-Line Mosaicism in Tuberous Sclerosis: How Common?
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| Rose VM, et al.
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| Am J Hum Genet 64(4):986-992. 1999
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| 82 | TSC2, TSC1
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| Co-localization of TSC1 and TSC2 gene products in tubers of patients with tuberous sclerosis.
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| Johnson MW, et al.
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| Brain Pathol 9(1):45-54. 1999
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| 83 | TSC1, TSC2
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| Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
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| Jones AC, et al.
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| Am J Hum Genet 64(5):1305-15. Review. 1999
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| 84 | TSC1, TSC2
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| High rate of mosaicism in tuberous sclerosis complex.
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| Verhoef S, et al.
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| Am J Hum Genet 64(6):1632-7. 1999
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| 85 | TSC1, TSC2
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| Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.
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| Mayer K, et al.
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| Hum Mutat 14(5):401-411 1999
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| 86 | TSC1, TSC2
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| Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
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| Niida Y, et al.
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| Hum Mutat 14(5):412-422 1999
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| 87 | TSC2, TSG16D
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| Complete inactivation of the TSC2 gene leads to formation of hamartomas.
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| Au KS, Hebert AA, Roach ES, Northrup H.
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| Am J Hum Genet 65(6):1790-5. No abstract available 1999
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| 88 | TSC1, TSC2
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| Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin.
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| Nellist M, van Slegtenhorst MA, Goedbloed M, van den Ouweland AM, Halley DJ, van der Sluijs P.
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| J Biol Chem 274(50):35647-52. 1999
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| 89 | TSC2
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| Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
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| Au KS, Rodriguez JA, Finch JL, Volcik KA, Roach ES, Delgado MR, Rodriguez E Jr, Northrup H.
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| Am J Hum Genet 62(2):286-94. 1998
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| 90 | TSC2, TSG16D
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| Evidence that lymphangiomyomatosis is caused by TSC2 mutations : chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis.
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| Smolarek TA, et al.
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| Am J Hum Genet 62 : 810-815. 1998
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| 91 | TSC2, TSC1
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| Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.
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| Van Slegtenhorst M, et al.
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| Hum Mol Genet 7 : 1053-1057. 1998
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| 92 | TSC2
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| Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
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| Beauchamp RL, Banwell A, McNamara P, Jacobsen M, Higgins E, Northrup H, Short P, Sims K, Ozelius L, Ramesh V.
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| Hum Mutat 12 : 408-416. 1998
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| 93 | TSC2, TSC1
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| Tuberous sclerosis-related gene expression in normal and dysplastic brain.
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| Vinters HV, et al.
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| Epilepsy Res 32 : 12-23. 1998
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| 94 | TSC2, TSC1
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| Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles.
|
| Plank TL, et al.
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| Cancer Res 58 : 4766-4770. 1998
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| 95 | TSC2
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| Loss of function of the tuberous sclerosis 2 tumor suppressor gene results in embryonic lethality characterized by disrupted neuroepithelial growth and development.
|
| Rennebeck G, et al.
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| Proc Natl Acad Sci U S A 95 : 15629-15634. 1998
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| 96 | NTHL1, SLC9A3R2, TSC2
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| Genomic structure and sequence of a human homologue (NTHL1/NTH1) of Escherichia coli endonuclease III with those of the adjacent parts of TSC2 and SLC9A3R2 genes.
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| Imai K, Sarker AH, Akiyama K, Ikeda S, Yao M, Tsutsui K, Shohmori T, Seki S.
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| Gene 222(2):287-95. 1998
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| 97 | TSC2
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| A novel splice site mutation (156 + 1G-A) in the TSC2 gene.
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| Kumar A, et al.
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| Hum Mutat 9 : 64-65. 1997
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| 98 | TSC2
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| Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16.
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| Au KS, et al.
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| Hum Mutat 9 : 23-29. 1997
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| 99 | TSC2, TSG16D
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| A novel splice site associated polymorphism in the tuberous sclerosis 2 (TSC2) gene may predispose to the development of sporadic gangliogliomas.
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| Platten M, Meyer-Puttlitz B, Blumcke I, Waha A, Wolf HK, Nothen MM, Louis DN, Sampson JR, von Deimling A.
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| J Neuropathol Exp Neurol 56(7):806-10. 1997
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| 100 | TSC2
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| Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT).
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| van Bakel I, Sepp T, Ward S, Yates JR, Green AJ.
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| Hum Mol Genet 6(9):1409-14. 1997
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| 101 | TSC2
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| The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.
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| Maheshwar MM, Cheadle JP, Jones AC, Myring J, Fryer AE, Harris PC, Sampson JR.
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| Hum Mol Genet 6(11):1991-6. 1997
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| 102 | PKD, PKD1, PKTS, TSC2
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| Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.
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| Sampson JR, Maheshwar MM, Aspinwall R, Thompson P, Cheadle JP, Ravine D, Roy S, Haan E, Bernstein J, Harris PC.
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| Am J Hum Genet 61(4):843-51. 1997
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| 103 | TSC1, TSC2
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| Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
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| Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA, Krawczak M, Sampson JR, Cheadle JP.
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| Hum Mol Genet 6(12):2155-61. 1997
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| 104 | TSC2
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| Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis.
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| Yates JR, van Bakel I, Sepp T, Payne SJ, Webb DW, Nevin NC, Green AJ.
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| Hum Mol Genet 6(13):2265-9. 1997
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| 105 | TSC2
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| Deletion of 11 amino acids in tuberin associated with severe tuberous sclerosis phenotypes: evidence for a new essential domain in the first third of the protein.
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| Jobert S, Bragado-Nilsson E, Samolyk D, Pedespan JM, Marchal C, Reichert S, Mallet J, Pitiot G.
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| Eur J Hum Genet 5(5):280-7. 1997
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| 106 | TSC2
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| Role of the tuberous sclerosis gene-2 product in cell cycle control. Loss of the tuberous sclerosis gene-2 induces quiescent cells to enter S phase.
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| Soucek T, Pusch O, Wienecke R, DeClue JE, Hengstschlager M.
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| J Biol Chem 272(46):29301-8. 1997
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| 107 | TSC2, RABEP1
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| The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis.
|
| Xiao GH, Shoarinejad F, Jin F, Golemis EA, Yeung RS.
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| J Biol Chem 272(10):6097-100. 1997
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| 108 | TSC2
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| Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish.
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| Maheshwar MM, et al.
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| Hum Mol Genet 5 : 131-137. 1996
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| 109 | TSC1, TSC2, TSG16D
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| Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas.
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| Carbonara C, et al.
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| Genes Chromosomes Cancer 15 : 18-25. 1996
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| 110 | TSC2
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| Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.
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| Vrtel R, et al.
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| J Med Genet 33 : 47-51. 1996
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| 111 | TSC2
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| Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.
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| Wilson PJ, et al.
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| Hum Mol Genet 5 : 249-256. 1996
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| 112 | ABCA3, AMDHD2, E4F1, NTN2L, PKD1, RAB26L, RNPS1, RPL3L, RPS2, TSC2
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| Generation of a transcriptional map for a 700-kb region surrounding the polycystic kidney disease type 1 (PKD1) and tuberous sclerosis type 2 (TSC2) disease genes on human chromosome 16p13.3.
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| Burn TC, Connors TD, Van Raay TJ, Dackowski WR, Millholland JM, Klinger KW, Landes GM.
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| Genome Res 6 : 525-537. 1996
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| 113 | ABCA3, AMDHD2, E4F1, NTN2L, PKD1, RAB26L, RNPS1, RPL3L, RPS2, TSC2
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| The region surrounding the PKD1 gene : a 700-kb P1 contig from a YAC-deficient interval.
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| Dackowski WR, Connors TD, Bowe AE, Stanton V Jr, Housman D, Doggett NA, Landes GM, Klinger KW.
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| Genome Res 6 : 515-524. 1996
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| 114 | TSC1, TSC2, TSG9B, TSG16D
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| Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesion.
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| Petri Henske E, et al.
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| Am J Hum Genet 59 : 400-406. 1996
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| 115 | TSC2, TSG16D
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| Suppression of tumorigenicity by the wild-type tuberous sclerosis 2 (Tsc2) gene and its C-terminal region.
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| Jin F, et al.
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| Proc Natl Acad Sci U S A 93 : 9154-9159. 1996
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| 116 | BRINP1, TSC1, TSC2, TSG16D
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| Loss of heterozygosity in tuberous sclerosis hamartomas.
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| Sepp T, et al.
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| J Med Genet 33 : 962-964. 1996
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| 117 | TSC2
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| Mutation analysis of the TSC2 gene in an African-American family.
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| Kumar A, et al.
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| Hum Mol Genet 4 : 2295-2298. 1995
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| 118 | TSC2
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| Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues.
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| Xu L, et al.
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| Genomics 27 : 475-480. 1995
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| 119 | TSC2
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| A De novo frame-shift mutation in the tuberin gene.
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| Kumar A, et al.
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| Hum Mol Genet 4 : 1471-1472. 1995
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| 120 | TSG16D, TSC2
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| Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas.
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| Henske EP, et al.
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| Genes Chromosomes Cancer 13 : 295-298. 1995
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| 121 | TSC2
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| Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity.
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| Wienecke R, et al.
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| J Biol Chem 270 : 16409-16414. 1995
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| 122 | TSC2
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| Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.
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| Green AJ, et al.
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| Nat Genet 6 : 193-196. 1994
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| 123 | TSC1, TSC2
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| Two loci for tuberous sclerosis : one on 9q34 and one on 16p13.
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| Povey S, et al.
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| Ann Hum Genet 58 : 107-127. 1994
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| 124 | TSC1, TSC2
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| Refined localization of TSC1 by combined analysis of 9q34 and 16p13 data in 14 tuberous sclerosis families.
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| Janssen B, et al.
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| Hum Genet 94 : 437-440. 1994
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| 125 | TSC2, TSC1
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| 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene.
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| Carbonara C, et al.
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| Hum Mol Genet 3 : 1829-1832. 1994
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| 126 | PKTS, TSC2, PKD1
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| Deletion of the TSC2 and PKD1, genes associated with severe infantile polycystic kidney disease-a contiguous gene syndrome.
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| Brook-Carter PT, et al.
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| Nat Genet 8 : 328-332. 1994
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| 127 | TSC2
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| Identification and characterization of the tuberous sclerosis gene on chromosome 16.
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| Nellist M, et al.
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| Cell 75 : 1305-1315. 1993
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| 128 | TSC2
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| Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease.
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| Kandt RS, et al.
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| Nat Genet 2 : 37-41. 1992
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| 129 | TSC1, TSC2
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| Linkage studies in tuberous sclerosis.
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| Burley MW, et al.
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