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 *

320 related articles for article (PubMed ID: 23453667)

  • 1. 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]  

  • 2. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
    Carss KJ; Stevens E; Foley AR; Cirak S; Riemersma M; Torelli S; Hoischen A; Willer T; van Scherpenzeel M; Moore SA; Messina S; Bertini E; Bönnemann CG; Abdenur JE; Grosmann CM; Kesari A; Punetha J; Quinlivan R; Waddell LB; Young HK; Wraige E; Yau S; Brodd L; Feng L; Sewry C; MacArthur DG; North KN; Hoffman E; Stemple DL; Hurles ME; van Bokhoven H; Campbell KP; Lefeber DJ; ; Lin YY; Muntoni F
    Am J Hum Genet; 2013 Jul; 93(1):29-41. PubMed ID: 23768512
    [TBL] [Abstract][Full Text] [Related]  

  • 3. TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
    Larson AA; Baker PR; Milev MP; Press CA; Sokol RJ; Cox MO; Lekostaj JK; Stence AA; Bossler AD; Mueller JM; Prematilake K; Tadjo TF; Williams CA; Sacher M; Moore SA
    Skelet Muscle; 2018 May; 8(1):17. PubMed ID: 29855340
    [TBL] [Abstract][Full Text] [Related]  

  • 4. B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.
    Maroofian R; Riemersma M; Jae LT; Zhianabed N; Willemsen MH; Wissink-Lindhout WM; Willemsen MA; de Brouwer APM; Mehrjardi MYV; Ashrafi MR; Kusters B; Kleefstra T; Jamshidi Y; Nasseri M; Pfundt R; Brummelkamp TR; Abbaszadegan MR; Lefeber DJ; van Bokhoven H
    Genome Med; 2017 Dec; 9(1):118. PubMed ID: 29273094
    [TBL] [Abstract][Full Text] [Related]  

  • 5. TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
    Munot P; McCrea N; Torelli S; Manzur A; Sewry C; Chambers D; Feng L; Ala P; Zaharieva I; Ragge N; Roper H; Marton T; Cox P; Milev MP; Liang WC; Maruyama S; Nishino I; Sacher M; Phadke R; Muntoni F
    Neuropathol Appl Neurobiol; 2022 Feb; 48(2):e12771. PubMed ID: 34648194
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Glycosylation of α-dystroglycan: O-mannosylation influences the subsequent addition of GalNAc by UDP-GalNAc polypeptide N-acetylgalactosaminyltransferases.
    Tran DT; Lim JM; Liu M; Stalnaker SH; Wells L; Ten Hagen KG; Live D
    J Biol Chem; 2012 Jun; 287(25):20967-74. PubMed ID: 22549772
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.
    Stevens E; Torelli S; Feng L; Phadke R; Walter MC; Schneiderat P; Eddaoudi A; Sewry CA; Muntoni F
    PLoS One; 2013; 8(7):e68958. PubMed ID: 23894383
    [TBL] [Abstract][Full Text] [Related]  

  • 8. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
    Cirak S; Foley AR; Herrmann R; Willer T; Yau S; Stevens E; Torelli S; Brodd L; Kamynina A; Vondracek P; Roper H; Longman C; Korinthenberg R; Marrosu G; Nürnberg P; ; Michele DE; Plagnol V; Hurles M; Moore SA; Sewry CA; Campbell KP; Voit T; Muntoni F
    Brain; 2013 Jan; 136(Pt 1):269-81. PubMed ID: 23288328
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
    Longman C; Brockington M; Torelli S; Jimenez-Mallebrera C; Kennedy C; Khalil N; Feng L; Saran RK; Voit T; Merlini L; Sewry CA; Brown SC; Muntoni F
    Hum Mol Genet; 2003 Nov; 12(21):2853-61. PubMed ID: 12966029
    [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. 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]  

  • 12. Expanding the Phenotype of B3GALNT2-Related Disorders.
    D'haenens E; Vergult S; Menten B; Dheedene A; Kooy RF; Callewaert B
    Genes (Basel); 2022 Apr; 13(4):. PubMed ID: 35456500
    [TBL] [Abstract][Full Text] [Related]  

  • 13. B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.
    Hedberg C; Oldfors A; Darin N
    Eur J Hum Genet; 2014 May; 22(5):707-10. PubMed ID: 24084573
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Aberrant glycosylation of alpha-dystroglycan and congenital muscular dystrophies.
    Endo T
    Acta Myol; 2005 Oct; 24(2):64-9. PubMed ID: 16550917
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Glycosylation defects in muscular dystrophies.
    Haliloğlu G; Topaloğlu H
    Curr Opin Neurol; 2004 Oct; 17(5):521-7. PubMed ID: 15367856
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The role of defective glycosylation in congenital muscular dystrophy.
    Schachter H; Vajsar J; Zhang W
    Glycoconj J; 2004; 20(5):291-300. PubMed ID: 15229394
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Overexpression of the CT GalNAc transferase inhibits muscular dystrophy in a cleavage-resistant dystroglycan mutant mouse.
    Jayasinha V; Hoyte K; Xia B; Martin PT
    Biochem Biophys Res Commun; 2003 Mar; 302(4):831-6. PubMed ID: 12646245
    [TBL] [Abstract][Full Text] [Related]  

  • 18. DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan.
    Dong M; Noguchi S; Endo Y; Hayashi YK; Yoshida S; Nonaka I; Nishino I
    Neurology; 2015 Jan; 84(3):273-9. PubMed ID: 25503980
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Abnormal glycosylation of dystroglycan in human genetic disease.
    Hewitt JE
    Biochim Biophys Acta; 2009 Sep; 1792(9):853-61. PubMed ID: 19539754
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.