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 |
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 |
PosttranslationalModification
|
disease |
BEFREE |
These results show that [CCTG]n repeat expansion, differently from the DM1 mutation, does not influence the methylation status of the CNBP gene and suggest that other molecular mechanisms are involved in the pathogenesis of DM2.
|
29291944 |
2018 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Myotonic dystrophy type 2 (DM2) is caused by a [CCTG] expansion in the ZNF9/CNBP gene.
|
26505324 |
2015 |
Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a patient with an 8 kb CCTG expansion in intron 1 of the CNBP gene, a mutation characteristic of myotonic dystrophy type 2 (DM2), whose first manifestation was "idiopathic" eosinophilic myositis.
|
25443993 |
2015 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Cellular nucleic acid binding protein (CNBP) has been implicated in vertebrate craniofacial development and in myotonic dystrophy type 2 (DM2) and sporadic inclusion body myositis (sIBM) human diseases by controlling cell proliferation and survival to mediate neural crest expansion.
|
24594223 |
2014 |
Dystrophia myotonica 2
|
0.600 |
Biomarker
|
disease |
BEFREE |
Myotonic dystrophy type 2 (DM2) is caused by an expansion of CCTG repeats in the zinc-finger protein gene (ZNF9).
|
24938413 |
2014 |
Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The unstable repeat expansions of (CTG)n or (CCTG)n in the DMPK and ZNF9 genes cause the two known subtypes of myotonic dystrophy: (i) myotonic dystrophy type 1 (DM1) and (ii) myotonic dystrophy type 2 (DM2) respectively.
|
23570879 |
2013 |
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 |
We have found CCUG(exp) RNA transcripts of the ZNF9 gene associated with the formation of ribonuclear foci in human skeletal muscle and some non-muscle tissues present in muscle biopsies and skin excisions from myotonic dystrophy type 2 patients.
|
22520280 |
2012 |
Dystrophia myotonica 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Both DM1 and DM2 are caused by unstable DNA repeats in untranslated regions of different genes: A (CTG)n repeat in the 3'-UTR of the DMPK gene and a (CCTG)n repeat in intron 1 of the CNBP (formerly ZNF9) gene, respectively.
|
22643181 |
2012 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Myotonic Dystrophy type 2 (DM2) is caused by a DNA microsatellite expansion within the Zinc Finger Protein 9 gene leading to an abnormal splicing pattern largely responsible for the pathological condition.
|
20138216 |
2010 |
Dystrophia myotonica 2
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
We determined the expression levels of ZNF9 during muscle cell differentiation and in DM2 muscle by microarray profiling, real-time RT-PCR, splice variant analysis, immunofluorescence, and Western blotting.
|
20971734 |
2010 |
Dystrophia myotonica 2
|
0.600 |
Biomarker
|
disease |
BEFREE |
This review focuses on the involvement of CNBP in vertebrate craniofacial development and human DM2 and sIBM diseases, as well as on the biochemical and structural features of CNBP and its cellular and molecular mechanism of action.
|
20960530 |
2010 |
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 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 |
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 |
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 |