BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

198 related articles for article (PubMed ID: 28072465)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 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. HnRNP C, YB-1 and hnRNP L coordinately enhance skipping of human MUSK exon 10 to generate a Wnt-insensitive MuSK isoform.
    Nasrin F; Rahman MA; Masuda A; Ohe K; Takeda J; Ohno K
    Sci Rep; 2014 Oct; 4():6841. PubMed ID: 25354590
    [TBL] [Abstract][Full Text] [Related]  

  • 7. HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA.
    Rahman MA; Masuda A; Ohe K; Ito M; Hutchinson DO; Mayeda A; Engel AG; Ohno K
    Sci Rep; 2013 Oct; 3():2931. PubMed ID: 24121633
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis.
    Ohno K; Ito M; Kawakami Y; Krejci E; Engel AG
    Chem Biol Interact; 2013 Mar; 203(1):335-40. PubMed ID: 22981737
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency.
    Sigoillot SM; Bourgeois F; Karmouch J; Molgó J; Dobbertin A; Chevalier C; Houlgatte R; Léger J; Legay C
    FASEB J; 2016 Jun; 30(6):2382-99. PubMed ID: 26993635
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner.
    Ohkawara B; Shen X; Selcen D; Nazim M; Bril V; Tarnopolsky MA; Brady L; Fukami S; Amato AA; Yis U; Ohno K; Engel AG
    JCI Insight; 2020 Apr; 5(7):. PubMed ID: 32271162
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
    Cossins J; Liu WW; Belaya K; Maxwell S; Oldridge M; Lester T; Robb S; Beeson D
    Hum Mol Genet; 2012 Sep; 21(17):3765-75. PubMed ID: 22661499
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Competitive regulation of alternative splicing and alternative polyadenylation by hnRNP H and CstF64 determines acetylcholinesterase isoforms.
    Nazim M; Masuda A; Rahman MA; Nasrin F; Takeda JI; Ohe K; Ohkawara B; Ito M; Ohno K
    Nucleic Acids Res; 2017 Feb; 45(3):1455-1468. PubMed ID: 28180311
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Congenital myasthenic syndromes].
    Ohno K
    Rinsho Shinkeigaku; 2012; 52(11):1159-61. PubMed ID: 23196549
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Inherited disorders of the neuromuscular junction: an update.
    Rodríguez Cruz PM; Palace J; Beeson D
    J Neurol; 2014 Nov; 261(11):2234-43. PubMed ID: 25305004
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
    Beeson D; Webster R; Ealing J; Croxen R; Brownlow S; Brydson M; Newsom-Davis J; Slater C; Hatton C; Shelley C; Colquhoun D; Vincent A
    Ann N Y Acad Sci; 2003 Sep; 998():114-24. PubMed ID: 14592868
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Developmental consequences of the ColQ/MuSK interactions.
    Karmouch J; Dobbertin A; Sigoillot S; Legay C
    Chem Biol Interact; 2013 Mar; 203(1):287-91. PubMed ID: 23089045
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.
    Rodríguez Cruz PM; Ravenscroft G; Natera D; Carr A; Manzur A; Liu WW; Vella NR; Jericó I; Gonzalez-Quereda L; Gallano P; Montalto SA; Davis MR; Lamont PJ; Laing NG; Bourque P; Nascimento A; Muntoni F; Polavarapu K; Lochmüller H; Palace J; Beeson D
    Neuromuscul Disord; 2023 Feb; 33(2):161-168. PubMed ID: 36634413
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Evidence that "brain-specific" FOX-1, FOX-2, and nPTB alternatively spliced isoforms are produced in the lens.
    Bitel CL; Nathan R; Wong P; Kuppasani S; Matsushita M; Kanazawa H; Frederikse PH
    Curr Eye Res; 2011 Apr; 36(4):321-7. PubMed ID: 21714144
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Congenital myasthenic syndromes and the formation of the neuromuscular junction.
    Beeson D; Webster R; Cossins J; Lashley D; Spearman H; Maxwell S; Slater CR; Newsom-Davis J; Palace J; Vincent A
    Ann N Y Acad Sci; 2008; 1132():99-103. PubMed ID: 18567858
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.