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 *

68 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.