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DisGeNET
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PubMed
17549393
A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome. Van der Woude syndrome (VWS) is the most common type of syndromic orofacial cleft, which accounts for approximatel
1.29 KB
2015-11-23
43
3
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PubMed
15754732
Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics. Primary hyperparathyroidism (pHPT) is a common endocrine disease that in more
1.92 KB
2015-11-19
43
21
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PubMed
9153228
Isolation and characterization of a new member of the scavenger receptor superfamily, glycoprotein-340 (gp-340), as a lung surfactant protein-D binding molecule. We have purified a previously unknown
2.14 KB
2015-11-27
43
3
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PubMed
24214978
O-GlcNAcylation of cofilin promotes breast cancer cell invasion. O-GlcNAcylation is a post-translational modification that regulates a broad range of nuclear and cytoplasmic proteins and is emerging a
1.18 KB
2018-12-28
43
12
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PubMed
24616092
High glucose-induced O-GlcNAcylated carbohydrate response element-binding protein (ChREBP) mediates mesangial cell lipogenesis and fibrosis: the possible role in the development of diabetic nephropath
1.8 KB
2018-12-28
43
21
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PubMed
25183011
MicroRNA-539 is up-regulated in failing heart, and suppresses O-GlcNAcase expression. Derangements in metabolism and related signaling pathways characterize the failing heart. One such signal, O-linke
1.45 KB
2018-12-27
43
21
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PubMed
19633295
Reduced expression of the hyaluronan and proteoglycan link proteins in malignant gliomas. Malignant gliomas have a distinctive ability to infiltrate the brain parenchyma and disrupt the neural extrace
1.65 KB
2015-11-25
43
9
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PubMed
18611854
The proteoglycan brevican binds to fibronectin after proteolytic cleavage and promotes glioma cell motility. The adult neural parenchyma contains a distinctive extracellular matrix that acts as a barr
1.57 KB
2015-11-24
43
3
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PubMed
22711886
TNFR-associated factor 2 deficiency in B lymphocytes predisposes to chronic lymphocytic leukemia/small lymphocytic lymphoma in mice. We have previously shown that transgenic (tg) mice expressing in B
2.05 KB
2015-11-26
43
12
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PubMed
8226878
cDNA cloning of chick cartilage chondroitin sulfate (aggrecan) core protein and identification of a stop codon in the aggrecan gene associated with the chondrodystrophy, nanomelia. We previously repor
1.94 KB
2015-11-27
43
6
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