BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 17644305)

  • 1. A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.
    Hims MM; Shetty RS; Pickel J; Mull J; Leyne M; Liu L; Gusella JF; Slaugenhaupt SA
    Genomics; 2007 Sep; 90(3):389-96. PubMed ID: 17644305
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.
    Morini E; Dietrich P; Salani M; Downs HM; Wojtkiewicz GR; Alli S; Brenner A; Nilbratt M; LeClair JW; Oaklander AL; Slaugenhaupt SA; Dragatsis I
    Hum Mol Genet; 2016 Mar; 25(6):1116-28. PubMed ID: 26769677
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model.
    Bochner R; Ziv Y; Zeevi D; Donyo M; Abraham L; Ashery-Padan R; Ast G
    Hum Mol Genet; 2013 Jul; 22(14):2785-94. PubMed ID: 23515154
    [TBL] [Abstract][Full Text] [Related]  

  • 4. RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the
    Ohe K; Yoshida M; Nakano-Kobayashi A; Hosokawa M; Sako Y; Sakuma M; Okuno Y; Usui T; Ninomiya K; Nojima T; Kataoka N; Hagiwara M
    RNA; 2017 Sep; 23(9):1393-1403. PubMed ID: 28592461
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice.
    Sinha R; Kim YJ; Nomakuchi T; Sahashi K; Hua Y; Rigo F; Bennett CF; Krainer AR
    Nucleic Acids Res; 2018 Jun; 46(10):4833-4844. PubMed ID: 29672717
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Specific correction of a splice defect in brain by nutritional supplementation.
    Shetty RS; Gallagher CS; Chen YT; Hims MM; Mull J; Leyne M; Pickel J; Kwok D; Slaugenhaupt SA
    Hum Mol Genet; 2011 Nov; 20(21):4093-101. PubMed ID: 21821670
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing.
    Gold-von Simson G; Goldberg JD; Rolnitzky LM; Mull J; Leyne M; Voustianiouk A; Slaugenhaupt SA; Axelrod FB
    Pediatr Res; 2009 Mar; 65(3):341-6. PubMed ID: 19033881
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.
    Bruun GH; Bang JMV; Christensen LL; Brøner S; Petersen USS; Guerra B; Grønning AGB; Doktor TK; Andresen BS
    Nucleic Acids Res; 2018 Sep; 46(15):7938-7952. PubMed ID: 29762696
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.
    Cuajungco MP; Leyne M; Mull J; Gill SP; Lu W; Zagzag D; Axelrod FB; Maayan C; Gusella JF; Slaugenhaupt SA
    Am J Hum Genet; 2003 Mar; 72(3):749-58. PubMed ID: 12577200
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia.
    Axelrod FB; Liebes L; Gold-Von Simson G; Mendoza S; Mull J; Leyne M; Norcliffe-Kaufmann L; Kaufmann H; Slaugenhaupt SA
    Pediatr Res; 2011 Nov; 70(5):480-3. PubMed ID: 21775922
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia.
    Yoshida M; Kataoka N; Miyauchi K; Ohe K; Iida K; Yoshida S; Nojima T; Okuno Y; Onogi H; Usui T; Takeuchi A; Hosoya T; Suzuki T; Hagiwara M
    Proc Natl Acad Sci U S A; 2015 Mar; 112(9):2764-9. PubMed ID: 25675486
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia?
    Mezey E; Parmalee A; Szalayova I; Gill SP; Cuajungco MP; Leyne M; Slaugenhaupt SA; Brownstein MJ
    Brain Res; 2003 Sep; 983(1-2):209-14. PubMed ID: 12914982
    [TBL] [Abstract][Full Text] [Related]  

  • 13. MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia.
    Hervé M; Ibrahim EC
    Dis Model Mech; 2016 Aug; 9(8):899-909. PubMed ID: 27483351
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Familial dysautonomia.
    Slaugenhaupt SA; Gusella JF
    Curr Opin Genet Dev; 2002 Jun; 12(3):307-11. PubMed ID: 12076674
    [TBL] [Abstract][Full Text] [Related]  

  • 15. ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.
    Morini E; Gao D; Montgomery CM; Salani M; Mazzasette C; Krussig TA; Swain B; Dietrich P; Narasimhan J; Gabbeta V; Dakka A; Hedrick J; Zhao X; Weetall M; Naryshkin NA; Wojtkiewicz GG; Ko CP; Talkowski ME; Dragatsis I; Slaugenhaupt SA
    Am J Hum Genet; 2019 Apr; 104(4):638-650. PubMed ID: 30905397
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Proteasome inhibitors to alleviate aberrant IKBKAP mRNA splicing and low IKAP/hELP1 synthesis in familial dysautonomia.
    Hervé M; Ibrahim EC
    Neurobiol Dis; 2017 Jul; 103():113-122. PubMed ID: 28404519
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Olfactory stem cells, a new cellular model for studying molecular mechanisms underlying familial dysautonomia.
    Boone N; Loriod B; Bergon A; Sbai O; Formisano-Tréziny C; Gabert J; Khrestchatisky M; Nguyen C; Féron F; Axelrod FB; Ibrahim EC
    PLoS One; 2010 Dec; 5(12):e15590. PubMed ID: 21187979
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The familial dysautonomia disease gene
    Chaverra M; George L; Mergy M; Waller H; Kujawa K; Murnion C; Sharples E; Thorne J; Podgajny N; Grindeland A; Ueki Y; Eiger S; Cusick C; Babcock AM; Carlson GA; Lefcort F
    Dis Model Mech; 2017 May; 10(5):605-618. PubMed ID: 28167615
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells.
    Boone N; Bergon A; Loriod B; Devèze A; Nguyen C; Axelrod FB; Ibrahim EC
    Hum Mutat; 2012 Mar; 33(3):530-40. PubMed ID: 22190446
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews.
    Dong J; Edelmann L; Bajwa AM; Kornreich R; Desnick RJ
    Am J Med Genet; 2002 Jul; 110(3):253-7. PubMed ID: 12116234
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.