BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

71 related articles for article (PubMed ID: 16550914)

  • 1. Splicing abnormalities in congenital myasthenic syndromes.
    Ohno K; Engel AG
    Acta Myol; 2005 Oct; 24(2):50-4. PubMed ID: 16550914
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries.
    Ohno K; Tsujino A; Shen XM; Milone M; Engel AG
    J Med Genet; 2005 Aug; 42(8):e53. PubMed ID: 16061559
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A frameshifting mutation in CHRNE unmasks skipping of the preceding exon.
    Ohno K; Milone M; Shen XM; Engel AG
    Hum Mol Genet; 2003 Dec; 12(23):3055-66. PubMed ID: 14532324
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome.
    Richard P; Gaudon K; Fournier E; Jackson C; Bauché S; Haddad H; Koenig J; Echenne B; Hantaï D; Eymard B
    Neuromuscul Disord; 2007 May; 17(5):409-14. PubMed ID: 17363247
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Antisense oligonucleotide-mediated exon skipping of CHRNA1 pre-mRNA as potential therapy for Congenital Myasthenic Syndromes.
    Tei S; Ishii HT; Mitsuhashi H; Ishiura S
    Biochem Biophys Res Commun; 2015 Jun; 461(3):481-6. PubMed ID: 25888793
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?
    Ohno K; Brengman JM; Felice KJ; Cornblath DR; Engel AG
    Am J Hum Genet; 1999 Sep; 65(3):635-44. PubMed ID: 10441569
    [TBL] [Abstract][Full Text] [Related]  

  • 7. An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.
    Müller JS; Stucka R; Neudecker S; Zierz S; Schmidt C; Huebner A; Lochmüller H; Abicht A
    Neurology; 2005 Aug; 65(3):463-5. PubMed ID: 16087917
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.
    Tran VK; Takeshima Y; Zhang Z; Yagi M; Nishiyama A; Habara Y; Matsuo M
    J Med Genet; 2006 Dec; 43(12):924-30. PubMed ID: 16738009
    [TBL] [Abstract][Full Text] [Related]  

  • 9. SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome.
    Rahman MA; Azuma Y; Nasrin F; Takeda J; Nazim M; Bin Ahsan K; Masuda A; Engel AG; Ohno K
    Sci Rep; 2015 Aug; 5():13208. PubMed ID: 26282582
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of hprt splicing mutations induced by the ultimate carcinogenic metabolite of benzo[a]pyrene in Chinese hamster V-79 cells.
    Hennig EE; Conney AH; Wei SJ
    Cancer Res; 1995 Apr; 55(7):1550-8. PubMed ID: 7882364
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junction.
    Ohno K; Rahman MA; Nazim M; Nasrin F; Lin Y; Takeda JI; Masuda A
    J Neurochem; 2017 Aug; 142 Suppl 2():64-72. PubMed ID: 28072465
    [TBL] [Abstract][Full Text] [Related]  

  • 12. hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome.
    Masuda A; Shen XM; Ito M; Matsuura T; Engel AG; Ohno K
    Hum Mol Genet; 2008 Dec; 17(24):4022-35. PubMed ID: 18806275
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.
    Müller JS; Baumeister SK; Rasic VM; Krause S; Todorovic S; Kugler K; Müller-Felber W; Abicht A; Lochmüller H
    Neurology; 2006 Oct; 67(7):1159-64. PubMed ID: 16931511
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome.
    Zeniou M; Gattoni R; Hanauer A; Stévenin J
    Nucleic Acids Res; 2004; 32(3):1214-23. PubMed ID: 14973203
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome.
    Bian Y; Masuda A; Matsuura T; Ito M; Okushin K; Engel AG; Ohno K
    Hum Mol Genet; 2009 Apr; 18(7):1229-37. PubMed ID: 19147685
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.
    Wimmer K; Roca X; Beiglböck H; Callens T; Etzler J; Rao AR; Krainer AR; Fonatsch C; Messiaen L
    Hum Mutat; 2007 Jun; 28(6):599-612. PubMed ID: 17311297
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers.
    Rinz CJ; Lennon VA; James F; Thoreson JB; Tsai KL; Starr-Moss AN; Humphries HD; Guo LT; Palmer AC; Clark LA; Shelton GD
    Neuromuscul Disord; 2015 Dec; 25(12):921-7. PubMed ID: 26429099
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X.
    Aznarez I; Zielenski J; Rommens JM; Blencowe BJ; Tsui LC
    J Med Genet; 2007 May; 44(5):341-6. PubMed ID: 17475917
    [TBL] [Abstract][Full Text] [Related]  

  • 19. First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome.
    Ben Mahmoud A; Siala O; Mansour RB; Driss F; Baklouti-Gargouri S; Mkaouar-Rebai E; Belguith N; Fakhfakh F
    Gene; 2013 Dec; 532(1):13-7. PubMed ID: 23954224
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The architecture of pre-mRNAs affects mechanisms of splice-site pairing.
    Fox-Walsh KL; Dou Y; Lam BJ; Hung SP; Baldi PF; Hertel KJ
    Proc Natl Acad Sci U S A; 2005 Nov; 102(45):16176-81. PubMed ID: 16260721
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.