Published in Nat Genet on May 01, 2012
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Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues. J Biol Chem (2014) 0.78
Prenatal muscle development in a mouse model for the secondary dystroglycanopathies. Skelet Muscle (2016) 0.77
The glycosyltransferase LARGE2 is repressed by Snail and ZEB1 in prostate cancer. Cancer Biol Ther (2015) 0.77
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Three monophyletic superfamilies account for the majority of the known glycosyltransferases. Protein Sci (2003) 1.68
A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med (2011) 1.67
Removal of dystroglycan causes severe muscular dystrophy in zebrafish embryos. Development (2002) 1.66
The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy. Proc Natl Acad Sci U S A (2007) 1.56
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet (2004) 1.56
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet (2007) 1.51
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O-glycosylation pattern of CD24 from mouse brain. Biol Chem (2009) 1.17
Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies. Hum Mol Genet (2011) 1.09
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A new mutation of the fukutin gene in a non-Japanese patient. Ann Neurol (2003) 1.03
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Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency. Hum Mol Genet (2011) 0.86
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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet (2004) 6.90
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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92
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Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22
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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet (2012) 2.63
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Massively parallel sequencing of ataxia genes after array-based enrichment. Hum Mutat (2010) 2.60
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