Citations for
1FCDBC, FCDBC2, FCDBC3, MTOR, TSC1, TSC2
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.
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.
Am J Hum Genet 100(3):454-472. doi: 10.1016/j.ajhg.2017.01.030. Epub 2017 Feb 16. 2017
2TSC1, TSC2
Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins.
Wong HT, McCartney DL, Lewis JC, Sampson JR, Howe CJ, de Vries PJ.
J Med Genet Med Genet. 2015 Sep 25. pii: jmedgenet-2015-103154. doi: 10.1136/jmedgenet-2015-103154. [Epub ahead of print] 2015
3TSC1, TSC2
Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex.
Sundberg M, Sahin M.
J Child Neurol Child Neurol. 2015 Aug 24. pii: 0883073815600870. [Epub ahead of print] 2015
4TSC1, TSC2
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.
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.
BMC Med Genet 16:10. doi: 10.1186/s12881-015-0155-4. 2015
5MTOR, TSC1
Tuberous sclerosis complex 1-mechanistic target of rapamycin complex 1 signaling determines brown-to-white adipocyte phenotypic switch.
Xiang X, Lan H, Tang H, Yuan F, Xu Y, Zhao J, Li Y, Zhang W.
Diabetes 64(2):519-28. doi: 10.2337/db14-0427. Epub 2014 Sep 11. 2015
6TBC1D7, TSC1, TSC2
Spatial control of the TSC complex integrates insulin and nutrient regulation of mTORC1 at the lysosome.
Menon S, Dibble CC, Talbott G, Hoxhaj G, Valvezan AJ, Takahashi H, Cantley LC, Manning BD.
Cell 156(4):771-85. doi: 10.1016/j.cell.2013.11.049. 2014
7TSC1, TSC2
Tumor suppressors TSC1 and TSC2 differentially modulate actin cytoskeleton and motility of mouse embryonic fibroblasts.
Goncharova EA, James ML, Kudryashova TV, Goncharov DA, Krymskaya VP.
PLoS One 9(10):e111476. doi: 10.1371/journal.pone.0111476. eCollection 2014. Erratum in: PLoS One. 2015;10(3):e0118637. 2014
8MTOR, TSC1, TSC2
Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1.
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.
Hum Mol Genet 23(14):3865-74. doi: 10.1093/hmg/ddu101. Epub 2014 Mar 5. 2014
9TSC1, TSC2
Tuberous sclerosis 1 promotes invariant NKT cell anergy and inhibits invariant NKT cell-mediated antitumor immunity.
Wu J, Shin J, Xie D, Wang H, Gao J, Zhong XP.
J Immunol 192(6):2643-50. doi: 10.4049/jimmunol.1302076. Epub 2014 Feb 14. 2014
10MTOR, TSC1
Activation of mTORC1 in collecting ducts causes hyperkalemia.
Chen Z, Dong H, Jia C, Song Q, Chen J, Zhang Y, Lai P, Fan X, Zhou X, Liu M, Lin J, Yang C, Li M, Gao T, Bai X.
J Am Soc Nephrol 25(3):534-45. doi: 10.1681/ASN.2013030225. Epub 2013 Nov 7. 2014
11TSC1
Tuberous sclerosis 1 (Tsc1)-dependent metabolic checkpoint controls development of dendritic cells.
Wang Y, Huang G, Zeng H, Yang K, Lamb RF, Chi H.
Proc Natl Acad Sci U S A 110(50):E4894-903. doi: 10.1073/pnas.1308905110. Epub 2013 Nov 26. 2013
12TSC1
TSC1 regulates the balance between effector and regulatory T cells.
Park Y, Jin HS, Lopez J, Elly C, Kim G, Murai M, Kronenberg M, Liu YC.
J Clin Invest 123(12):5165-78. doi: 10.1172/JCI69751. Epub 2013 Nov 25. 2013
13TSC1
Temporal and mosaic Tsc1 deletion in the developing thalamus disrupts thalamocortical circuitry, neural function, and behavior.
Normand EA, Crandall SR, Thorn CA, Murphy EM, Voelcker B, Browning C, Machan JT, Moore CI, Connors BW, Zervas M.
Neuron 78(5):895-909. doi: 10.1016/j.neuron.2013.03.030. Epub 2013 May 9. 2013
14TSC1
Tsc1 (hamartin) confers neuroprotection against ischemia by inducing autophagy.
Papadakis M, Hadley G, Xilouri M, Hoyte LC, Nagel S, McMenamin MM, Tsaknakis G, Watt SM, Drakesmith CW, Chen R, Wood MJ, Zhao Z, Kessler B, Vekrellis K, Buchan AM.
Nat Med 19(3):351-7. doi: 10.1038/nm.3097. Epub 2013 Feb 24. 2013
15TSC1
TSC1 controls distribution of actin fibers through its effect on function of Rho family of small GTPases and regulates cell migration and polarity.
Ohsawa M, Kobayashi T, Okura H, Igarashi T, Mizuguchi M, Hino O.
PLoS One 8(1):e54503. doi: 10.1371/journal.pone.0054503. Epub 2013 Jan 23. 2013
16HAP1, MTOR, TSC1
A novel Hap1-Tsc1 interaction regulates neuronal mTORC1 signaling and morphogenesis in the brain.
Mejia LA, Litterman N, Ikeuchi Y, de la Torre-Ubieta L, Bennett EJ, Zhang C, Harper JW, Bonni A.
J Neurosci 33(46):18015-21. doi: 10.1523/JNEUROSCI.2290-13.2013. 2013
17TBC1D7, TSC1, TSC2
TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1.
Dibble CC, Elis W, Menon S, Qin W, Klekota J, Asara JM, Finan PM, Kwiatkowski DJ, Murphy LO, Manning BD.
Mol Cell 47(4):535-46. doi: 10.1016/j.molcel.2012.06.009. Epub 2012 Jul 12. 2012
18TSC1
Tumor suppressor TSC1 is critical for T-cell anergy.
Xie DL, Wu J, Lou YL, Zhong XP.
Proc Natl Acad Sci U S A 109(35):14152-7. doi: 10.1073/pnas.1119744109. Epub 2012 Aug 13. 2012
19TSC1
Cystogenesis and elongated primary cilia in Tsc1-deficient distal convoluted tubules.
Armour EA, Carson RP, Ess KC.
Am J Physiol Renal Physiol 303(4):F584-92. doi: 10.1152/ajprenal.00141.2012. Epub 2012 Jun 6. 2012
20TSC1, TSC2
Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex.
Jang MA, Hong SB, Lee JH, Lee MH, Chung MP, Shin HJ, Kim JW, Ki CS.
Pediatr Neurol 46(4):222-4. doi: 10.1016/j.pediatrneurol.2012.02.002. 2012
21TSC1
GABAergic interneuron development and function is modulated by the Tsc1 gene.
Fu C, Cawthon B, Clinkscales W, Bruce A, Winzenburger P, Ess KC.
Cereb Cortex 22(9):2111-9. doi: 10.1093/cercor/bhr300. Epub 2011 Oct 20. 2012
22TSC1, TSC2
The TSC1 and TSC2 tumor suppressors are required for proper ER stress response and protect cells from ER stress-induced apoptosis.
Kang YJ, Lu MK, Guan KL.
Cell Death Differ. 18(1):133-44. 2011
23TSC1, TSC2
TSC1/TSC2 signaling in the CNS.
Han JM, Sahin M.
FEBS Lett 585(7):973-80. Epub 2011 Feb 15. Review. 2011
24FMR1, TSC1, TSC2
Mutations causing syndromic autism define an axis of synaptic pathophysiology.
Auerbach BD, Osterweil EK, Bear MF.
Nature 480(7375):63-8. doi: 10.1038/nature10658. 2011
25TBC1D7, TSC1
Activation of an oncogenic TBC1D7 (TBC1 domain family, member 7) protein in pulmonary carcinogenesis.
Sato N, Koinuma J, Ito T, Tsuchiya E, Kondo S, Nakamura Y, Daigo Y.
Genes Chromosomes Cancer 49(4):353-67. 2010
26TSC1, TSC2
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
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.
Eur J Hum Genet 17(3):319-28. Epub 2008 Oct 1. 2009
27TSC1, TSC2
The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway.
Hartman TR, Liu D, Zilfou JT, Robb V, Morrison T, Watnick T, Henske EP.
Hum Mol Genet 18(1):151-63. Epub 2008 Oct 9. 2009
28MTOR, TSC1, TSC2
Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatment.
Inoki K, Guan KL.
Hum Mol Genet 18(R1):R94-100. Review. 2009
29TSC1
Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.
Pymar LS, Platt FM, Askham JM, Morrison EE, Knowles MA.
Hum Mol Genet 17(13):2006-17. Epub 2008 Apr 7. 2008
30TSC1, TSC2
Tuberous sclerosis complex proteins control axon formation.
Choi YJ, Di Nardo A, Kramvis I, Meikle L, Kwiatkowski DJ, Sahin M, He X.
Genes Dev 22(18):2485-95. 2008
31MTOR, TSC1, TSC2
The TSC1-TSC2 complex is required for proper activation of mTOR complex 2.
Huang J, Dibble CC, Matsuzaki M, Manning BD.
Mol Cell Biol 28(12):4104-15. Epub 2008 Apr 14. 2008
32CUL4A, DDB1, FBXW5, RBX1, TSC1, TSC2
WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase.
Hu J, Zacharek S, He YJ, Lee H, Shumway S, Duronio RJ, Xiong Y.
Genes Dev 22(7):866-71. 2008
33TSC1, TSC2
Loss of the tuberous sclerosis complex tumor suppressors triggers the unfolded protein response to regulate insulin signaling and apoptosis.
Ozcan U, Ozcan L, Yilmaz E, Düvel K, Sahin M, Manning BD, Hotamisligil GS.
Mol Cell 29(5):541-51.PMID: 18342602 2008
34TSC1, TSC2
The TSC1-TSC2 complex: a molecular switchboard controlling cell growth.
Huang J, Manning BD.
Biochem J 412(2):179-90. Review.PMID: 18466115 2008
35TSC1
Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex.
Zeng LH, Xu L, Gutmann DH, Wong M.
Ann Neurol. 63(4):444-53. 2008
36TSC1,TSC2
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.
Hum Genet 121(3-4):389-400. Epub 2007 Feb 8. 2007
37IKBKB, MTOR, TNF, TSC1
IKK beta suppression of TSC1 links inflammation and tumor angiogenesis via the mTOR pathway.
Lee DF, Kuo HP, Chen CT, Hsu JM, Chou CK, Wei Y, Sun HL, Li LY, Ping B, Huang WC, He X, Hung JY, Lai CC, Ding Q, Su JL, Yang JY, Sahin AA, Hortobagyi GN, Tsai FJ, Tsai CH, Hung MC.
Cell 130(3):440-55. 2007
38NGFRAP1, TSC1
The TSC1 gene product hamartin interacts with NADE.
Yasui S, Tsuzaki K, Ninomiya H, Floricel F, Asano Y, Maki H, Takamura A, Nanba E, Higaki K, Ohno K.
Mol Cell Neurosci 35(1):100-8. Epub 2007 Feb 12. 2007
39TBC1D7, TSC1, TSC2
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.
Biochem Biophys Res Commun 361(1):218-23. Epub 2007 Jul 16. 2007
40TSC1
Cognitive deficits in Tsc1+/- mice in the absence of cerebral lesions and seizures.
Goorden SM, van Woerden GM, van der Weerd L, Cheadle JP, Elgersma Y.
Ann Neurol. 62(6):648-55. 2007
41TSC1, TSC2, PLK1
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
42TSC1, TSC2, HERC1
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
43TSC1, 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
44EPHB2, MAPK1, TSC1, TSC2
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
45TSC1, 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
46TSC1, 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
47DOCK7, 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
48TSC1
A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes.
Meikle L, McMullen JR, Sherwood MC, Lader AS, Walker V, Chan JA, Kwiatkowski DJ.
Hum Mol Genet. 14(3):429-35. 2005
49MTOR, 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
50TSC1, 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
51TSC1, TSC2
TSC2 mediates cellular energy response to control cell growth and survival.
Inoki K, Zhu T, Guan KL.
Cell 115(5):577-90. 2003
52RHEB, 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
53PCNA, 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
54TSC1
Mutation spectrum of the 9q34 tuberous sclerosis gene TSC1 in transitional cell carcinoma of the bladder.
Knowles MA, Habuchi T, Kennedy W, Cuthbert-Heavens D.
Cancer Res 63(22):7652-6. 2003
55FKBP8, 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
56FCDBC, TSC1
Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.
Becker AJ, Urbach H, Scheffler B, Baden T, Normann S, Lahl R, Pannek HW, Tuxhorn I, Elger CE, Schramm J, Wiestler OD, Blumcke I.
Ann Neurol 52(1):29-37. 2002
57TSC1, 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
58YWHAZ, 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
59NEFL, 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
60TSC1
A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells.
Kwiatkowski DJ, Zhang H, Bandura JL, Heiberger KM, Glogauer M, el-Hashemite N, Onda H.
Hum Mol Genet. 11(5):525-34. 2002
61TSC1, 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
62TSC1, 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
63TSC1, 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
64TSC1, 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
65TSC1, 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
66TSC1
A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice.
Kobayashi T, Minowa O, Sugitani Y, Takai S, Mitani H, Kobayashi E, Noda T, Hino O.
Proc Natl Acad Sci U S A. 98(15):8762-7. 2001
67CDK1, 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
68TSC2, TSC1
Expression of the tuberous sclerosis complex gene products, hamartin and tuberin, in central nervous system tissues.
Gutmann DH, Zhang Y, Hasbani MJ, Goldberg MP, Plank TL, Petri Henske E.
Acta Neuropathol (Berl) 99(3):223-30. 2000
69TSC2, TSC1
The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho.
Lamb RF, Roy C, Diefenbach TJ, Vinters HV, Johnson MW, Jay DG, Hall A.
Nat Cell Biol 2(5):281-7. 2000
70 TSC1, TSC2
Molecular genetic advances in tuberous sclerosis.
Cheadle JP, Reeve MP, Sampson JR, Kwiatkowski DJ.
Hum Genet 107(2):97-114. 2000
71TSC1
The TSC1 gene product, hamartin, negatively regulates cell proliferation.
Miloloza A, Rosner M, Nellist M, Halley D, Bernaschek G, Hengstschlager M.
Hum Mol Genet 9(12):1721-7. 2000
72TSC1
Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis.
Kwiatkowska J, et al.
N Engl J Med 340(9):703-7. No abstract available 1999
73TSC1
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
van Slegtenhorst M, et al.
J Med Genet 36(4):285-9. 1999
74TSC1, TSC2
Germ-Line Mosaicism in Tuberous Sclerosis: How Common?
Rose VM, et al.
Am J Hum Genet 64(4):986-992. 1999
75TSC2, TSC1
Co-localization of TSC1 and TSC2 gene products in tubers of patients with tuberous sclerosis.
Johnson MW, et al.
Brain Pathol 9(1):45-54. 1999
76TSC1, TSC2
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
Jones AC, et al.
Am J Hum Genet 64(5):1305-15. Review. 1999
77TSC1, TSC2
High rate of mosaicism in tuberous sclerosis complex.
Verhoef S, et al.
Am J Hum Genet 64(6):1632-7. 1999
78TSC1, TSC2
Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.
Mayer K, et al.
Hum Mutat 14(5):401-411 1999
79TSC1, TSC2
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
Niida Y, et al.
Hum Mutat 14(5):412-422 1999
80TSC1, TSC2
Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin.
Nellist M, van Slegtenhorst MA, Goedbloed M, van den Ouweland AM, Halley DJ, van der Sluijs P.
J Biol Chem 274(50):35647-52. 1999
81TSC2, TSC1
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.
Van Slegtenhorst M, et al.
Hum Mol Genet 7 : 1053-1057. 1998
82TSC2, TSC1
Tuberous sclerosis-related gene expression in normal and dysplastic brain.
Vinters HV, et al.
Epilepsy Res 32 : 12-23. 1998
83TSC1
Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.
Ali JBM, et al.
J Med Genet 35 : 969-972. 1998
84TSC1
Comprehensive mutational analysis of the TSC1 gene : observations on frequency of mutation, associated features, and nonpenetrance.
Kwiatkowska J, et al.
Ann Hum Genet 62 : 277-285. 1998
85TSC2, TSC1
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.
Cancer Res 58 : 4766-4770. 1998
86TSC1
A 1.7-megabase sequence-ready cosmid contig covering the TSC1 candidate region in 9q34.
Hornigold N, van Slegtenhorst M, Nahmias J, Ekong R, Rousseaux S, Hermans C, Halley D, Povey S, Wolfe J.
Genomics 41(3):385-9. 1997
87TSC1
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer F, Munro C, Hawkins TL, Sepp T, Ali JB, Ward S, Green AJ, Yates JR, Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S, Kwiatkowski DJ.
Science 277(5327):805-8. 1997
88TSC1, TSC2
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA, Krawczak M, Sampson JR, Cheadle JP.
Hum Mol Genet 6(12):2155-61. 1997
89NUP214, BRD3, RALGDS, RPL7A, TSC1
Mapping ESTs to the TSC1 candidate interval by use of the 'Science 96' transcript map.
Wolfe J, Jeremiah S, Young J, Burley MW, Stewart H, McCulley M, Grant C, Naz K, Povey S.
Ann Hum Genet 61(Pt 5):401-9. 1997
90TSC1, TSC2, TSG16D
Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas.
Carbonara C, et al.
Genes Chromosomes Cancer 15 : 18-25. 1996
91TSC1
Report of a critical recombination further narrowing the TSC1 region.
Au KS, et al.
J Med Genet 33 : 559-561. 1996
92TSC1, TSC2, TSG9B, TSG16D
Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesion.
Petri Henske E, et al.
Am J Hum Genet 59 : 400-406. 1996
93BRINP1, TSC1, TSC2, TSG16D
Loss of heterozygosity in tuberous sclerosis hamartomas.
Sepp T, et al.
J Med Genet 33 : 962-964. 1996
94TSC1
A 500-kilobase region containing the tuberous sclerosis locus (TSC1) in a 1.7-megabase YAC and cosmid contig.
Murrell J, et al.
Genomics 25 : 59-65. 1995
95TSC1
Physical analysis of the tuberous sclerosis region in 9q34.
Zhou CY, et al.
Genomics 25 : 304-308. 1995
96TSC1, TSG9B
Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family.
Sampson JR, et al.
J Med Genet 32 : 848-850. 1995
97TSC1
A 5.4-Mb continuous pulsed-field gel electrophoresis map of human 9q34.1 between ABL and D9S114, including the tuberous sclerosis (TSC1) region.
Henske EP, et al.
Genomics 28 : 105-108. 1995
98TSC1
Cosmid contigs from the tuberous sclerosis candidate region on chromosome 9q34.
van Slegtenhorst M, et al.
Eur J Hum Genet 3 : 78-86. 1995
99TSC1
Cosmid contigs spanning 9q34 including the candidate region for TSC1.
Nahmias J, et al.
Eur J Hum Genet 3 : 65-77. 1995
100TSC1, TSC2
Two loci for tuberous sclerosis : one on 9q34 and one on 16p13.
Povey S, et al.
Ann Hum Genet 58 : 107-127. 1994
101TSC1, TSC2
Refined localization of TSC1 by combined analysis of 9q34 and 16p13 data in 14 tuberous sclerosis families.
Janssen B, et al.
Hum Genet 94 : 437-440. 1994
102TSC1, TSG16D, TSG9B
The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor.
Green AJ, et al.
Hum Mol Genet 3 : 1833-1834. 1994
103TSC2, TSC1
9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene.
Carbonara C, et al.
Hum Mol Genet 3 : 1829-1832. 1994
104TSC1
Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).
Nellist M, et al.
J Med Genet 30 : 224-227. 1993
105TSC1
Physical mapping within the tuberous sclerosis linkage group in region 9q32-q34.
Harris RM, et al.
Genomics 15 : 265-274. 1993
106TSC1
Unsuccessful attempt to detect genetic mutation in tuberous sclerosis utilizing the polymerase chain reaction.
Watanabe R, et al.
Arch Dermatol Res 285 : 140-143. 1993
107TSC1
Evidence for genetic heterogeneity in tuberous sclerosis : one locus on chromosome 9 and at least one locus elsewhere.
Northrup H, et al.
Am J Hum Genet 51 : 709-720. 1992
108TSC1
Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q.
Sampson JR, et al.
J Med Genet 29 : 861-866. 1992
109TSC1, TSC2
Linkage studies in tuberous sclerosis.
Burley MW, et al.
(HGM11) Cytogenet Cell Genet 58 : 1935-1936. 1991
110TSC1
Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.
Haines JL, et al.
Am J Hum Genet 49 : 764-772. 1991
111TSC1
A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus.
Fahsold R, et al.
Hum Genet 88 : 85-90. 1991
112TSC1
Genetic heterogeneity in tuberous sclerosis.
Janssen LAJ, et al.
Genomics 8 : 237-242. 1990
113TSC1
Tuberous sclerosis and the relation with renal angiomyolipoma. A genetic study on the clinical aspects.
van Baal JG, et al.
Clin Genet 35 : 167-173. 1989
114ABL1, TSC1
Genetic recombination between tuberous sclerosis and oncogene v-abl.
Povey S, et al.
Lancet II : 279-280. 1988
115TSC1
Family studies in scleroderma (systemic sclerosis) demonstrating an HLA-linked increased chromosomal breakage rate in cultured lymphocytes+.
Rittner G, et al.
(HGM9) Cytogenet Cell Genet 46 : 682. 1987
116TSC1
Evidence that the gene for tuberous sclerosis is on chromosome 9.
Fryer AE, et al.
Lancet I : 659-661. 1987
117TSC1
Linkage of the tuberous sclerosis locus to a DNA polymorphism detected by v-abl.
Connor JM, et al.
J Med Genet 24 : 544-546. 1987
118TSC1
Tuberous sclerosis: analysis of linkage to red cell and plasma protein markers.
Connor JM, et al.
Cytogenet Cell Genet 44 : 63-64. 1987