Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystem disorder caused by CCTG repeat expansions within intron 1 of the ZNF9 gene on chromosome 3q.
|
20491895 |
2011 |
Dystrophia myotonica 2
|
0.600 |
Biomarker
|
disease |
BEFREE |
Myotonic dystrophy Type 2 is caused by CCTG repeat expansion in the first intron in Zinc Finger Protein 9 (ZNF9) gene.
|
18974556 |
2009 |
Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 2 (DM2) is an autosomal dominant muscular dystrophy caused by the expansion of an intronic tetranucleotide CCTG repeat in CNBP on chromosome 3.
|
29533949 |
2018 |
Dystrophia myotonica 2
|
0.600 |
Biomarker
|
disease |
BEFREE |
Proximal myotonic myopathy/myotonic dystrophy type 2 (PROMM/DM 2) is caused by an expansion of the (TG)n(TCTG)n(CCTG)n repeat tract in intron 1 of the ZNF9 gene located on chromosome 3q21.
|
14666402 |
2004 |
Dystrophia myotonica 2
|
0.600 |
Biomarker
|
disease |
BEFREE |
Myotonic dystrophy type 1 (DM1, Steinert's disease) is caused by a (CTG)n expansion in DMPK, while myotonic dystrophy type 2 (DM2) is caused by a (CCTG)n expansion in ZNF9/CNBP.
|
24882752 |
2015 |
Dystrophia myotonica 2
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
These data identify ZNF9 as a regulator of cap-independent translation and indicate that ZNF9 activity may contribute mechanistically to the myotonic dystrophy type 2 phenotype.
|
20174632 |
2010 |
Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)n repeat expansion in intron 1 of CNBP.
|
24907641 |
2014 |
Dystrophia myotonica 2
|
0.600 |
Biomarker
|
disease |
BEFREE |
In this review, we discuss the role of expansion of CCUG repeats in the reduction of ZNF9-mediated regulation of the rate of protein synthesis in DM2 and the consequences of this reduction in the multi-systemic phenotype of DM2.
|
20458885 |
2010 |
Dystrophia myotonica 2
|
0.600 |
Biomarker
|
disease |
BEFREE |
We evaluated muscle biopsies from 57 patients with genetically confirmed myotonic dystrophy type 2/proximal myotonic myopathy (DM2/PROMM).
|
14755494 |
2004 |
Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystemic disorder caused by a CCTG repeat expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene.
|
18804219 |
2008 |
Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystemic disorder caused by a CCTG expansion in intron 1 of the zinc finger protein 9 gene on chromosome 3.
|
19345584 |
2009 |
Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These disorders are distinguished from myotonic dystrophy type 1 (DM-1), the more recently described proximal myotonic myopathy/myotonic dystrophy type 2 (PROMM/DM-2), and proximal myotonic dystrophy (a variant of DM-2) by characteristic clinical features, lack of abnormal nucleotide repeat expansions in the DM-1 and DM-2 genes, lack of cataracts and endocrine disturbances, and absence of significant histopathology in the muscle biopsy.
|
17395134 |
2007 |
Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 2 (DM2) is caused by a dominantly transmitted CCTG repeat expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene on chromosome 3q.
|
15231584 |
2004 |
Dystrophia myotonica 2
|
0.600 |
Biomarker
|
disease |
BEFREE |
These findings suggest that alterations of CNBP in DM2 might cause muscle atrophy via CNBP-mediated translation and via protein-protein interactions affecting myofiber membrane function.
|
29735719 |
2018 |
Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 2 (DM2) is caused by an unstable CCTG repeat in intron 1 of ZNF9 (zinc finger protein 9) on chromosome 3q21.
|
16876389 |
2007 |
Dystrophia myotonica 2
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
The reduction of ZNF9 RNA-binding activity in DM2 correlates with a decrease of ZNF9 protein levels in cytoplasm of DM2 muscle cells.
|
19605641 |
2009 |
Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 2 (DM2) is a common adult onset muscular dystrophy caused by a dominantly transmitted (CCTG)( n ) expansion in intron 1 of the CNBP gene.
|
22407275 |
2012 |
Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with (CCTG)n repeat expansion in intron 1 of the CNBP gene.
|
25186227 |
2015 |
Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This finding suggests that the Z-DNA-forming sequence in the DM2 gene locus may have a protective effect of reducing the potential for slipped-strand DNA formation in (CCTG)(n) x (CAGG)(n) repeats.
|
19218442 |
2009 |
Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 2 (DM2) is a dominantly inherited disorder caused by a CCTG repeat expansion in intron 1 of ZNF9 gene.
|
19683984 |
2009 |
Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 2 (DM2) is a genetic, autosomal dominant disease due to expansion of tetraplet (CCTG) repetitions in the first intron of the ZNF9/CNBP gene.
|
24722564 |
2014 |
Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The mutation responsible for DM2 is a CCTG-repeat expansion of 75-11 000 repeats in intron 1 of the ZNF9 gene on chromosome 3q21.3.
|
12220374 |
2002 |
Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population.
|
15652222 |
2005 |
Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 2 (DM2) is caused by expansion of a tetranucleotide CCTG repeat in intron 1 of the ZNF9 gene on chromosome 3q21.
|
18057971 |
2008 |
Dystrophia myotonica 2
|
0.600 |
Biomarker
|
disease |
BEFREE |
Myotonic dystrophy type 2/proximal myotonic myopathy (DM2/PROMM) is an autosomal dominant multisystem disorder.
|
15596616 |
2004 |