Functional characterisation of the TSC1 gene.

被引:0
|
作者
van Slegtenhorst, M
Nellist, M
de Hoogt, R
Bakker, R
van den Ouweland, A
van der Sluijs, P
Halley, D
机构
[1] Univ Utrecht, Sch Med, Dept Cell Biol, NL-3584 CX Utrecht, Netherlands
[2] Erasmus Univ, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
[3] Univ Rotterdam Hosp, Rotterdam, Netherlands
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
2239
引用
收藏
页码:A383 / A383
页数:1
相关论文
共 50 条
  • [21] Breakpoint characterization of tuberous sclerosis TSC1 and TSC2 gene deletions.
    Longa, L
    Brusco, A
    Saluto, A
    Polidoro, S
    Padovan, S
    Allavena, A
    Migone, N
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 402 - 402
  • [22] Missense mutations to the TSC1 gene cause tuberous sclerosis complex
    Mark Nellist
    Diana van den Heuvel
    Diane Schluep
    Carla Exalto
    Miriam Goedbloed
    Anneke Maat-Kievit
    Ton van Essen
    Karin van Spaendonck-Zwarts
    Floor Jansen
    Paula Helderman
    Gabriella Bartalini
    Outi Vierimaa
    Maila Penttinen
    Jenneke van den Ende
    Ans van den Ouweland
    Dicky Halley
    European Journal of Human Genetics, 2009, 17 : 319 - 328
  • [23] Missense mutations to the TSC1 gene cause tuberous sclerosis complex
    Nellist, Mark
    van den Heuvel, Diana
    Schluep, Diane
    Exalto, Carla
    Goedbloed, Miriam
    Maat-Kievit, Anneke
    van Essen, Ton
    Van Spaendonck-Zwarts, Karin
    Jansen, Floor
    Helderman, Paula
    Bartalini, Gabriella
    Vierimaa, Outi
    Penttinen, Maila
    van den Ende, Jenneke
    van den Ouweland, Ans
    Halley, Dicky
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (03) : 319 - 328
  • [24] The TSC1 gene product hamartin inter-acts with NADE
    Yasui, Sakiko
    Tsuzaki, Kokoro
    Ninomiya, Haruaki
    Floricel, Florin
    Asano, Yasuo
    Maki, Hirotoshi
    Takamura, Ayumi
    Nanba, Eiji
    Higaki, Katsumi
    Ohno, Kousaku
    MOLECULAR AND CELLULAR NEUROSCIENCE, 2007, 35 (01) : 100 - 108
  • [25] Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis
    Ali, JBM
    Sepp, T
    Ward, S
    Green, AJ
    Yates, JRW
    JOURNAL OF MEDICAL GENETICS, 1998, 35 (12) : 969 - 972
  • [26] The TSC1 gene product, hamartin, negatively regulates cell proliferation
    Miloloza, A
    Rosner, M
    Nellist, I
    Halley, D
    Bernaschek, G
    Hengstschläger, M
    HUMAN MOLECULAR GENETICS, 2000, 9 (12) : 1721 - 1727
  • [27] Confinement of chromosomal instability to the TSC1 tumor suppressor gene locus
    Fassunke, J
    Blümcke, I
    Lahl, R
    Pannek, HW
    Tuxhorn, I
    Elger, CE
    Schramm, J
    Mathiak, M
    Wiestler, OD
    Becker, AJ
    ACTA NEUROPATHOLOGICA, 2003, 106 (04) : 393 - 394
  • [28] Targeted NGS of the TSC1/TSC2 genes
    Polli, R.
    Bettella, E.
    Leonardi, E.
    Aspromonte, M.
    Cesca, F.
    Rossato, S.
    Toldo, I.
    Murgia, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 209 - 210
  • [29] Loss of heterozygosity of TSC2 and TSC1 gene in perivascular epitheliold cell tumor (PEComa)
    Pan, CC
    Chung, MY
    LABORATORY INVESTIGATION, 2006, 86 : 153A - 154A
  • [30] The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas
    Plank, TL
    Logginidou, H
    Klein-Szanto, A
    Henske, EP
    MODERN PATHOLOGY, 1999, 12 (05) : 539 - 545