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 *

203 related articles for article (PubMed ID: 38272461)

  • 1. Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes.
    Karas BF; Terez KR; Mowla S; Battula N; Flannery KP; Gural BM; Aboussleman G; Mubin N; Manzini MC
    Hum Mol Genet; 2024 Apr; 33(8):709-723. PubMed ID: 38272461
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).
    Thornhill P; Bassett D; Lochmüller H; Bushby K; Straub V
    Brain; 2008 Jun; 131(Pt 6):1551-61. PubMed ID: 18477595
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
    Godfrey C; Clement E; Mein R; Brockington M; Smith J; Talim B; Straub V; Robb S; Quinlivan R; Feng L; Jimenez-Mallebrera C; Mercuri E; Manzur AY; Kinali M; Torelli S; Brown SC; Sewry CA; Bushby K; Topaloglu H; North K; Abbs S; Muntoni F
    Brain; 2007 Oct; 130(Pt 10):2725-35. PubMed ID: 17878207
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genes required for functional glycosylation of dystroglycan are conserved in zebrafish.
    Moore CJ; Goh HT; Hewitt JE
    Genomics; 2008 Sep; 92(3):159-67. PubMed ID: 18632251
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy.
    Rubio-Fernández M; Uribe ML; Vicente-Tejedor J; Germain F; Susín-Lara C; Quereda C; Montoliu L; de la Villa P; Martín-Nieto J; Cruces J
    Sci Rep; 2018 Jun; 8(1):8543. PubMed ID: 29867208
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.
    Lommel M; Cirak S; Willer T; Hermann R; Uyanik G; van Bokhoven H; Körner C; Voit T; Barić I; Hehr U; Strahl S
    Neurology; 2010 Jan; 74(2):157-64. PubMed ID: 20065251
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
    Stevens E; Carss KJ; Cirak S; Foley AR; Torelli S; Willer T; Tambunan DE; Yau S; Brodd L; Sewry CA; Feng L; Haliloglu G; Orhan D; Dobyns WB; Enns GM; Manning M; Krause A; Salih MA; Walsh CA; Hurles M; Campbell KP; Manzini MC; ; Stemple D; Lin YY; Muntoni F
    Am J Hum Genet; 2013 Mar; 92(3):354-65. PubMed ID: 23453667
    [TBL] [Abstract][Full Text] [Related]  

  • 8. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.
    Di Costanzo S; Balasubramanian A; Pond HL; Rozkalne A; Pantaleoni C; Saredi S; Gupta VA; Sunu CM; Yu TW; Kang PB; Salih MA; Mora M; Gussoni E; Walsh CA; Manzini MC
    Hum Mol Genet; 2014 Nov; 23(21):5781-92. PubMed ID: 24925318
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies.
    Muntoni F; Torelli S; Wells DJ; Brown SC
    Curr Opin Neurol; 2011 Oct; 24(5):437-42. PubMed ID: 21825985
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.
    Kanagawa M; Nishimoto A; Chiyonobu T; Takeda S; Miyagoe-Suzuki Y; Wang F; Fujikake N; Taniguchi M; Lu Z; Tachikawa M; Nagai Y; Tashiro F; Miyazaki J; Tajima Y; Takeda S; Endo T; Kobayashi K; Campbell KP; Toda T
    Hum Mol Genet; 2009 Feb; 18(4):621-31. PubMed ID: 19017726
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
    van Reeuwijk J; Maugenre S; van den Elzen C; Verrips A; Bertini E; Muntoni F; Merlini L; Scheffer H; Brunner HG; Guicheney P; van Bokhoven H
    Hum Mutat; 2006 May; 27(5):453-9. PubMed ID: 16575835
    [TBL] [Abstract][Full Text] [Related]  

  • 12. NAD+ improves neuromuscular development in a zebrafish model of FKRP-associated dystroglycanopathy.
    Bailey EC; Alrowaished SS; Kilroy EA; Crooks ES; Drinkert DM; Karunasiri CM; Belanger JJ; Khalil A; Kelley JB; Henry CA
    Skelet Muscle; 2019 Aug; 9(1):21. PubMed ID: 31391079
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
    Geis T; Rödl T; Topaloğlu H; Balci-Hayta B; Hinreiner S; Müller-Felber W; Schoser B; Mehraein Y; Hübner A; Zirn B; Hoopmann M; Reutter H; Mowat D; Schuierer G; Schara U; Hehr U; Kölbel H
    Orphanet J Rare Dis; 2019 Jul; 14(1):179. PubMed ID: 31311558
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy.
    Beedle AM; Turner AJ; Saito Y; Lueck JD; Foltz SJ; Fortunato MJ; Nienaber PM; Campbell KP
    J Clin Invest; 2012 Sep; 122(9):3330-42. PubMed ID: 22922256
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.
    Willer T; Prados B; Falcón-Pérez JM; Renner-Müller I; Przemeck GK; Lommel M; Coloma A; Valero MC; de Angelis MH; Tanner W; Wolf E; Strahl S; Cruces J
    Proc Natl Acad Sci U S A; 2004 Sep; 101(39):14126-31. PubMed ID: 15383666
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Congenital muscular dystrophy and alpha-dystroglycanopathy].
    Saito F; Matsumura K; Hagiwara H; Shimizu T
    Rinsho Shinkeigaku; 2008 Aug; 48(8):543-9. PubMed ID: 18939472
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.
    Gupta V; Kawahara G; Gundry SR; Chen AT; Lencer WI; Zhou Y; Zon LI; Kunkel LM; Beggs AH
    Hum Mol Genet; 2011 May; 20(9):1712-25. PubMed ID: 21296866
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.
    Chan YM; Keramaris-Vrantsis E; Lidov HG; Norton JH; Zinchenko N; Gruber HE; Thresher R; Blake DJ; Ashar J; Rosenfeld J; Lu QL
    Hum Mol Genet; 2010 Oct; 19(20):3995-4006. PubMed ID: 20675713
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Zebrafish models for human FKRP muscular dystrophies.
    Kawahara G; Guyon JR; Nakamura Y; Kunkel LM
    Hum Mol Genet; 2010 Feb; 19(4):623-33. PubMed ID: 19955119
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy.
    Chong YK; Ma LC; Lo KL; Lee CK; Mak CM; Kan AN; Lam CW
    Eur J Paediatr Neurol; 2014 Jul; 18(4):532-5. PubMed ID: 24657014
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.