Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

    Results: 18

    1.

    Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

    Namavar Y, Barth PG, Poll-The BT, Baas F.

    Orphanet J Rare Dis. 2011 Jul 12;6:50. doi: 10.1186/1750-1172-6-50. Review.

    PMID:
    21749694
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    2.

    TSEN54 mutations cause pontocerebellar hypoplasia type 5.

    Namavar Y, Chitayat D, Barth PG, van Ruissen F, de Wissel MB, Poll-The BT, Silver R, Baas F.

    Eur J Hum Genet. 2011 Jun;19(6):724-6. doi: 10.1038/ejhg.2011.8. Epub 2011 Feb 2.

    PMID:
    21368912
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    3.

    HSPC117 is the essential subunit of a human tRNA splicing ligase complex.

    Popow J, Englert M, Weitzer S, Schleiffer A, Mierzwa B, Mechtler K, Trowitzsch S, Will CL, Lührmann R, Söll D, Martinez J.

    Science. 2011 Feb 11;331(6018):760-4. doi: 10.1126/science.1197847.

    PMID:
    21311021
    [PubMed - indexed for MEDLINE]
    Free Article
    4.

    Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.

    Kasher PR, Namavar Y, van Tijn P, Fluiter K, Sizarov A, Kamermans M, Grierson AJ, Zivkovic D, Baas F.

    Hum Mol Genet. 2011 Apr 15;20(8):1574-84. doi: 10.1093/hmg/ddr034. Epub 2011 Jan 27.

    PMID:
    21273289
    [PubMed - indexed for MEDLINE]
    Free Article
    5.

    Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.

    Cassandrini D, Biancheri R, Tessa A, Di Rocco M, Di Capua M, Bruno C, Denora PS, Sartori S, Rossi A, Nozza P, Emma F, Mezzano P, Politi MR, Laverda AM, Zara F, Pavone L, Simonati A, Leuzzi V, Santorelli FM, Bertini E.

    Neurology. 2010 Oct 19;75(16):1459-64. doi: 10.1212/WNL.0b013e3181f88173.

    PMID:
    20956791
    [PubMed - indexed for MEDLINE]
    6.

    Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

    Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium, Dobyns WB, Baas F, Poll-The BT.

    Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15.

    PMID:
    20952379
    [PubMed - indexed for MEDLINE]
    Free Article
    7.

    Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?

    Graham JM Jr, Spencer AH, Grinberg I, Niesen CE, Platt LD, Maya M, Namavar Y, Baas F, Dobyns WB.

    Am J Med Genet A. 2010 Sep;152A(9):2268-76. doi: 10.1002/ajmg.a.33579.

    PMID:
    20803644
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    8.

    tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

    Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F.

    Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204.

    PMID:
    18711368
    [PubMed - indexed for MEDLINE]
    9.

    Human RNA 5'-kinase (hClp1) can function as a tRNA splicing enzyme in vivo.

    Ramirez A, Shuman S, Schwer B.

    RNA. 2008 Sep;14(9):1737-45. doi: 10.1261/rna.1142908. Epub 2008 Jul 22.

    PMID:
    18648070
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    10.

    Structural determinants characteristic to AARS subclasses and tRNA-splicing endonuclease in eukaryotes.

    Mallick B, Ghosh Z, Chakrabarti J.

    J Biomol Struct Dyn. 2008 Oct;26(2):223-34.

    PMID:
    18597544
    [PubMed - indexed for MEDLINE]
    11.

    hClp1: a novel kinase revitalizes RNA metabolism.

    Weitzer S, Martinez J.

    Cell Cycle. 2007 Sep 1;6(17):2133-7. Epub 2007 Jun 27.

    PMID:
    17786051
    [PubMed - indexed for MEDLINE]
    Free Article
    12.

    Three-dimensional structure determined for a subunit of human tRNA splicing endonuclease (Sen15) reveals a novel dimeric fold.

    Song J, Markley JL.

    J Mol Biol. 2007 Feb 9;366(1):155-64. Epub 2006 Nov 11.

    PMID:
    17166513
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    MMASS: an optimized array-based method for assessing CpG island methylation.

    Ibrahim AE, Thorne NP, Baird K, Barbosa-Morais NL, Tavaré S, Collins VP, Wyllie AH, Arends MJ, Brenton JD.

    Nucleic Acids Res. 2006;34(20):e136. Epub 2006 Oct 13.

    PMID:
    17041235
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    Cotranscription and intergenic splicing of the PPARG and TSEN2 genes in cattle.

    Roux M, Levéziel H, Amarger V.

    BMC Genomics. 2006 Apr 4;7:71.

    PMID:
    16595010
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    15.

    Spliceosome-mediated RNA trans-splicing.

    Yang Y, Walsh CE.

    Mol Ther. 2005 Dec;12(6):1006-12. Epub 2005 Oct 12. Review.

    PMID:
    16226059
    [PubMed - indexed for MEDLINE]
    16.

    Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3' end formation.

    Paushkin SV, Patel M, Furia BS, Peltz SW, Trotta CR.

    Cell. 2004 Apr 30;117(3):311-21.

    PMID:
    15109492
    [PubMed - indexed for MEDLINE]
    17.

    CDNA cloning of p112, the largest regulatory subunit of the human 26s proteasome, and functional analysis of its yeast homologue, sen3p.

    Yokota K, Kagawa S, Shimizu Y, Akioka H, Tsurumi C, Noda C, Fujimuro M, Yokosawa H, Fujiwara T, Takahashi E, Ohba M, Yamasaki M, DeMartino GN, Slaughter CA, Toh-e A, Tanaka K.

    Mol Biol Cell. 1996 Jun;7(6):853-70.

    PMID:
    8816993
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    18.

    Non-enzymatic excision of pre-tRNA introns?

    van Tol H, Gross HJ, Beier H.

    EMBO J. 1989 Jan;8(1):293-300.

    PMID:
    2714254
    [PubMed - indexed for MEDLINE]
    Free PMC Article

      Display Settings:

      Format
      Items per page
      Sort by

      Send to:

      Choose Destination

      Supplemental Content

      Find related data

      Search details

      See more...

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...
      Write to the Help Desk