|1.||Endo, Tamao: 11 articles (08/2013 - 03/2002)|
|2.||Toda, Tatsushi: 9 articles (08/2013 - 03/2002)|
|3.||Manya, Hiroshi: 8 articles (08/2013 - 03/2002)|
|4.||Hu, Huaiyu: 7 articles (04/2013 - 03/2006)|
|5.||Kobayashi, Kazuhiro: 6 articles (08/2013 - 03/2002)|
|6.||Yang, Yuan: 5 articles (04/2013 - 03/2006)|
|7.||Topaloglu, Haluk: 5 articles (11/2008 - 03/2002)|
|8.||Zhang, Peng: 4 articles (04/2013 - 12/2007)|
|9.||Talim, Beril: 4 articles (11/2008 - 03/2002)|
|10.||Muntoni, Francesco: 4 articles (11/2008 - 11/2003)|
01/01/2008 - "The enzyme assay used to diagnose muscle-eye-brain disease may not detect subtle abnormalities of POMGnT1 function, and additional kinetic studies must be carried out in such cases."
05/01/2014 - "Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1."
02/01/2014 - "Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene."
08/01/2013 - "Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients."
12/07/2012 - "Mutations in POMT1, POMT2, POMGNT1, LARGE, FKTN, and FKRP identified these diseases as alpha-dystroglycanopathies. "
07/01/2013 - "In this study, immunohistochemistry was used for the detection of the PomGnT1 protein in 133 cases of glioma tissues. "
02/01/2015 - "These findings suggest that PomGnT1 promotes GBM progression via activation of β-catenin and may serve as a prognostic factor for glioma patient survival as well as a novel molecular target for anticancer therapy in malignant glioma."
02/01/2015 - "The function of PomGnT1 in glioma growth and invasion, and the underlying mechanisms of PomGnT1 regulation were explored in vitro and in vivo. "
02/01/2015 - "However, the prognostic significance of PomGnT1 in glioma patients and its function in GBM progression remain unknown. "
07/01/2013 - "In conclusion, our data suggest that PomGnT1 protein was correlated with the malignance of glioma progression, the mechanism involved in glioma cell's pseudopodium formation, and the expression of c-myc protein. "
|3.||Muscular Dystrophies (Muscular Dystrophy)
12/01/2013 - "Mutations in POMT1, POMT2, POMGNT1, FKTN, FKRP, LARGE, GMPPB, TMEM5 and COL4A1 and ISPD lead to a wide spectrum of phenotypes of congenital muscular dystrophies with or without eye and brain abnormalities. "
03/01/2013 - "These results indicate that LARGE overexpression in vivo by AAV9-mediated gene therapy is effective at restoring functional glycosylation of α-DG and rescuing the muscular dystrophy phenotype in deficiency of not only LARGE but also POMGnT1, providing evidence that in vivo LARGE gene therapy may be broadly useful in dystroglycanopathies."
01/01/2010 - "POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies."
01/01/2008 - "Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy."
01/01/2008 - "To investigate whether mutations in POMGnT1 could be responsible for milder allelic variants of muscular dystrophy. "
|4.||Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
09/01/2012 - "Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O."
01/01/2008 - "Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant."
01/01/2008 - "Our findings widen the spectrum of disorders known to result from mutations in POMGnT1 to include limb-girdle muscular dystrophy with no mental retardation. "
09/01/2004 - "Five of these genes (POMT1; POMGnT1; FXRP; Fukutin; LARGE) encode for proteins involved in the glycosylation of alpha-dystroglycan and, indeed, abnormal glycosylation of this molecule is a common finding in all the respective conditions (Walker Warburg syndrome; Muscle-Eye-Brain disease; congenital muscular dystrophy type 1C and Limb girdle muscular dystrophy type 21; Fukuyama muscular dystrophy; congenital muscular dystrophy type 1D). "
|5.||Eye Abnormalities (Eye Abnormality)
11/01/2003 - "Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome, each associated with eye abnormalities and neuronal migration defects, result from mutations in fukutin, POMGnT1 and POMT1, respectively, while mutations in the fukutin-related protein (FKRP) gene cause congenital muscular dystrophy 1C, typically lacking brain involvement. "
10/08/2010 - "Together, our data demonstrate that post-translational modification on O-mannose, which is mediated by Large and POMGnT1, is essential for pikachurin binding and proper localization, and suggest that their disruption underlies the molecular pathogenesis of eye abnormalities in a group of muscular dystrophies."
|3.||Proteins (Proteins, Gene)
|5.||N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase (N-acetylglucosaminyltransferase)
|7.||protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
|8.||Class 5 Receptor-Like Protein Tyrosine Phosphatases