These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

231 related articles for article (PubMed ID: 18854862)

  • 1. A reliable cell-based assay for testing unclassified TSC2 gene variants.
    Coevoets R; Arican S; Hoogeveen-Westerveld M; Simons E; van den Ouweland A; Halley D; Nellist M
    Eur J Hum Genet; 2009 Mar; 17(3):301-10. PubMed ID: 18854862
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 2009 Mar; 17(3):319-28. PubMed ID: 18830229
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.
    Hoogeveen-Westerveld M; Ekong R; Povey S; Mayer K; Lannoy N; Elmslie F; Bebin M; Dies K; Thompson C; Sparagana SP; Davies P; van Eeghen AM; Thiele EA; van den Ouweland A; Halley D; Nellist M
    Hum Mutat; 2013 Jan; 34(1):167-75. PubMed ID: 22903760
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.
    Nellist M; Sancak O; Goedbloed M; Adriaans A; Wessels M; Maat-Kievit A; Baars M; Dommering C; van den Ouweland A; Halley D
    BMC Med Genet; 2008 Feb; 9():10. PubMed ID: 18302728
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
    Hoogeveen-Westerveld M; Ekong R; Povey S; Karbassi I; Batish SD; den Dunnen JT; van Eeghen A; Thiele E; Mayer K; Dies K; Wen L; Thompson C; Sparagana SP; Davies P; Aalfs C; van den Ouweland A; Halley D; Nellist M
    Hum Mutat; 2012 Mar; 33(3):476-9. PubMed ID: 22161988
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
    Rendtorff ND; Bjerregaard B; Frödin M; Kjaergaard S; Hove H; Skovby F; Brøndum-Nielsen K; Schwartz M;
    Hum Mutat; 2005 Oct; 26(4):374-83. PubMed ID: 16114042
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex.
    Mozaffari M; Hoogeveen-Westerveld M; Kwiatkowski D; Sampson J; Ekong R; Povey S; den Dunnen JT; van den Ouweland A; Halley D; Nellist M
    BMC Med Genet; 2009 Sep; 10():88. PubMed ID: 19747374
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
    Hoogeveen-Westerveld M; Wentink M; van den Heuvel D; Mozaffari M; Ekong R; Povey S; den Dunnen JT; Metcalfe K; Vallee S; Krueger S; Bergoffen J; Shashi V; Elmslie F; Kwiatkowski D; Sampson J; Vidales C; Dzarir J; Garcia-Planells J; Dies K; Maat-Kievit A; van den Ouweland A; Halley D; Nellist M
    Hum Mutat; 2011 Apr; 32(4):424-35. PubMed ID: 21309039
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 2005 Jun; 13(6):731-41. PubMed ID: 15798777
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.
    Choi JE; Chae JH; Hwang YS; Kim KJ
    Brain Dev; 2006 Aug; 28(7):440-6. PubMed ID: 16554133
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 2004 Dec; 63(12):1236-42. PubMed ID: 15624760
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Efficacy of combined inhibition of mTOR and ERK/MAPK pathways in treating a tuberous sclerosis complex cell model.
    Mi R; Ma J; Zhang D; Li L; Zhang H
    J Genet Genomics; 2009 Jun; 36(6):355-61. PubMed ID: 19539245
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
    Hung CC; Su YN; Chien SC; Liou HH; Chen CC; Chen PC; Hsieh CJ; Chen CP; Lee WT; Lin WL; Lee CN
    BMC Med Genet; 2006 Sep; 7():72. PubMed ID: 16981987
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
    Niida Y; Lawrence-Smith N; Banwell A; Hammer E; Lewis J; Beauchamp RL; Sims K; Ramesh V; Ozelius L
    Hum Mutat; 1999; 14(5):412-22. PubMed ID: 10533067
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways.
    Kwiatkowski DJ; Manning BD
    Hum Mol Genet; 2005 Oct; 14 Spec No. 2():R251-8. PubMed ID: 16244323
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease.
    Astrinidis A; Henske EP
    Oncogene; 2005 Nov; 24(50):7475-81. PubMed ID: 16288294
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
    Ali M; Girimaji SC; Markandaya M; Shukla AK; Sacchidanand S; Kumar A
    Acta Neurol Scand; 2005 Jan; 111(1):54-63. PubMed ID: 15595939
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 2005 Apr; 121(2):179-93. PubMed ID: 15851026
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The mTOR/S6K signalling pathway: the role of the TSC1/2 tumour suppressor complex and the proto-oncogene Rheb.
    Nobukini T; Thomas G
    Novartis Found Symp; 2004; 262():148-54; discussion 154-9, 265-8. PubMed ID: 15562827
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Deficient TSC1/TSC2-complex suppression of SOX9-osteopontin-AKT signalling cascade constrains tumour growth in tuberous sclerosis complex.
    Jin F; Jiang K; Ji S; Wang L; Ni Z; Huang F; Li C; Chen R; Zhang H; Hu Z; Zha X
    Hum Mol Genet; 2017 Jan; 26(2):407-419. PubMed ID: 28013293
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.