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243 related items for PubMed ID: 36222125

  • 1. Dynamics and variability of transcriptomic dysregulation in congenital myotonic dystrophy during pediatric development.
    Hale MA, Bates K, Provenzano M, Johnson NE.
    Hum Mol Genet; 2023 Apr 20; 32(9):1413-1428. PubMed ID: 36222125
    [Abstract] [Full Text] [Related]

  • 2. Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.
    Michel L, Huguet-Lachon A, Gourdon G.
    PLoS One; 2015 Apr 20; 10(9):e0137620. PubMed ID: 26339785
    [Abstract] [Full Text] [Related]

  • 3. Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.
    Nutter CA, Kidd BM, Carter HA, Hamel JI, Mackie PM, Kumbkarni N, Davenport ML, Tuyn DM, Gopinath A, Creigh PD, Sznajder ŁJ, Wang ET, Ranum LPW, Khoshbouei H, Day JW, Sampson JB, Prokop S, Swanson MS.
    Brain; 2023 Oct 03; 146(10):4217-4232. PubMed ID: 37143315
    [Abstract] [Full Text] [Related]

  • 4. (CTG)n repeat-mediated dysregulation of MBNL1 and MBNL2 expression during myogenesis in DM1 occurs already at the myoblast stage.
    André LM, van Cruchten RTP, Willemse M, Wansink DG.
    PLoS One; 2019 Oct 03; 14(5):e0217317. PubMed ID: 31116797
    [Abstract] [Full Text] [Related]

  • 5. Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy.
    Thomas JD, Sznajder ŁJ, Bardhi O, Aslam FN, Anastasiadis ZP, Scotti MM, Nishino I, Nakamori M, Wang ET, Swanson MS.
    Genes Dev; 2017 Jun 01; 31(11):1122-1133. PubMed ID: 28698297
    [Abstract] [Full Text] [Related]

  • 6. A CTG repeat-selective chemical screen identifies microtubule inhibitors as selective modulators of toxic CUG RNA levels.
    Reddy K, Jenquin JR, McConnell OL, Cleary JD, Richardson JI, Pinto BS, Haerle MC, Delgado E, Planco L, Nakamori M, Wang ET, Berglund JA.
    Proc Natl Acad Sci U S A; 2019 Oct 15; 116(42):20991-21000. PubMed ID: 31570586
    [Abstract] [Full Text] [Related]

  • 7. Transcriptome Analysis Reveals Altered Inflammatory Pathway in an Inducible Glial Cell Model of Myotonic Dystrophy Type 1.
    Azotla-Vilchis CN, Sanchez-Celis D, Agonizantes-Juárez LE, Suárez-Sánchez R, Hernández-Hernández JM, Peña J, Vázquez-Santillán K, Leyva-García N, Ortega A, Maldonado V, Rangel C, Magaña JJ, Cisneros B, Hernández-Hernández O.
    Biomolecules; 2021 Jan 26; 11(2):. PubMed ID: 33530452
    [Abstract] [Full Text] [Related]

  • 8. Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brain.
    Suenaga K, Lee KY, Nakamori M, Tatsumi Y, Takahashi MP, Fujimura H, Jinnai K, Yoshikawa H, Du H, Ares M, Swanson MS, Kimura T.
    PLoS One; 2012 Jan 26; 7(3):e33218. PubMed ID: 22427994
    [Abstract] [Full Text] [Related]

  • 9. Combinatorial effects of ion channel mis-splicing as a cause of myopathy in myotonic dystrophy.
    Nitschke L, Cooper TA.
    J Clin Invest; 2024 Jan 02; 134(1):. PubMed ID: 38165037
    [Abstract] [Full Text] [Related]

  • 10. The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients.
    Botta A, Rinaldi F, Catalli C, Vergani L, Bonifazi E, Romeo V, Loro E, Viola A, Angelini C, Novelli G.
    J Med Genet; 2008 Oct 02; 45(10):639-46. PubMed ID: 18611984
    [Abstract] [Full Text] [Related]

  • 11. Developmental insights into the pathology of and therapeutic strategies for DM1: Back to the basics.
    Chau A, Kalsotra A.
    Dev Dyn; 2015 Mar 02; 244(3):377-90. PubMed ID: 25504326
    [Abstract] [Full Text] [Related]

  • 12. Systemic Evaluation of Chimeric LNA/2'-O-Methyl Steric Blockers for Myotonic Dystrophy Type 1 Therapy.
    Christou M, Wengel J, Sokratous K, Kyriacou K, Nikolaou G, Phylactou LA, Mastroyiannopoulos NP.
    Nucleic Acid Ther; 2020 Apr 02; 30(2):80-93. PubMed ID: 31873063
    [Abstract] [Full Text] [Related]

  • 13. Recovery in the Myogenic Program of Congenital Myotonic Dystrophy Myoblasts after Excision of the Expanded (CTG)n Repeat.
    André LM, van Cruchten RTP, Willemse M, Bezstarosti K, Demmers JAA, van Agtmaal EL, Wansink DG, Wieringa B.
    Int J Mol Sci; 2019 Nov 13; 20(22):. PubMed ID: 31766224
    [Abstract] [Full Text] [Related]

  • 14. Cell-type-specific dysregulation of RNA alternative splicing in short tandem repeat mouse knockin models of myotonic dystrophy.
    Nutter CA, Bubenik JL, Oliveira R, Ivankovic F, Sznajder ŁJ, Kidd BM, Pinto BS, Otero BA, Carter HA, Vitriol EA, Wang ET, Swanson MS.
    Genes Dev; 2019 Dec 01; 33(23-24):1635-1640. PubMed ID: 31624084
    [Abstract] [Full Text] [Related]

  • 15. An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I.
    López-Martínez A, Soblechero-Martín P, de-la-Puente-Ovejero L, Nogales-Gadea G, Arechavala-Gomeza V.
    Genes (Basel); 2020 Sep 22; 11(9):. PubMed ID: 32971903
    [Abstract] [Full Text] [Related]

  • 16. Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy.
    Furling D, Lam le T, Agbulut O, Butler-Browne GS, Morris GE.
    Am J Pathol; 2003 Mar 22; 162(3):1001-9. PubMed ID: 12598332
    [Abstract] [Full Text] [Related]

  • 17. Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy.
    Mootha VV, Hansen B, Rong Z, Mammen PP, Zhou Z, Xing C, Gong X.
    Invest Ophthalmol Vis Sci; 2017 Sep 01; 58(11):4579-4585. PubMed ID: 28886202
    [Abstract] [Full Text] [Related]

  • 18. Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy.
    Sznajder ŁJ, Swanson MS.
    Int J Mol Sci; 2019 Jul 09; 20(13):. PubMed ID: 31323950
    [Abstract] [Full Text] [Related]

  • 19. Molecular and Clinical Implications of Variant Repeats in Myotonic Dystrophy Type 1.
    Peric S, Pesovic J, Savic-Pavicevic D, Rakocevic Stojanovic V, Meola G.
    Int J Mol Sci; 2021 Dec 29; 23(1):. PubMed ID: 35008780
    [Abstract] [Full Text] [Related]

  • 20. Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent.
    Morales F, Corrales E, Zhang B, Vásquez M, Santamaría-Ulloa C, Quesada H, Sirito M, Estecio MR, Monckton DG, Krahe R.
    Hum Mol Genet; 2021 Dec 27; 31(2):262-274. PubMed ID: 34432028
    [Abstract] [Full Text] [Related]

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