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UnknownLGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation.
Not available
S-EPMC6390114 | biostudies-literature
UnknownMyofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D.
Not available
S-EPMC4634370 | biostudies-literature
GenomicsMethlyC-Seq of ibm1-4
Using MethylC-Seq to provide single-base resulution of DNA methylation status in ibm1-4 mutant 1 sample examined, ibm1-4 mutant
ORGANISM(S): Arabidopsis thaliana 
2013-09-06 | E-GEOD-48053 | biostudies-arrayexpress
UnknownComplete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
Not available
S-EPMC4513909 | biostudies-literature
TranscriptomicsArabidopsis EDM2 Promotes IBM1 Distal Polyadenylation and Regulates Genome DNA Methylation Patterns [RNA-Seq]
A forward genetics screen led to the identification of the putative chromatin regulator EDM2 as a cellular anti-silencing factor and regulator of genome DNA methylation patterns. EDM2 contains a composite PHD finger domain that recognizes both active H3K4 and repressive H3K9 methylation marks at the...
ORGANISM(S): Arabidopsis thaliana 
2013-10-29 | E-GEOD-51763 | biostudies-arrayexpress
TranscriptomicsIBM1, a JmjC domain histone demethylase, is involved in the regulation of RNA-directed DNA methylation through epigenetic control of RDR2 and DCL3 expression in Arabidopsis.
The small RNA mediated DNA methylation (RdDM) is highly elaborated in Arabidopsis as an important epigenetic pathway controls expression of genes and multiple developmental processes. RDR2 and DCL3 are necessary factors to the 24-nt siRNA biogenesis and the RdDM pathway. Here, we find that IBM1 (inc...
ORGANISM(S): Arabidopsis thaliana 
2012-08-03 | E-GEOD-32284 | biostudies-arrayexpress
UnknownGenetic basis of limb-girdle muscular dystrophies: the 2014 update.
Not available
S-EPMC4021627 | biostudies-literature
TranscriptomicsGenome-wide analysis of H3K9me2 in ibm1, kyp, and cmt3 mutants of Arabidopsis thaliana
In diverse eukaryotes, constitutively silent sequences, such as transposons and repeats, are marked by methylation at histone H3 lysine 9 (H3K9me). Despites the conservation and importance in the genome integrity, mechanisms to exclude H3K9m from active genes remained largely unexplored. Here we sho...
ORGANISM(S): Arabidopsis thaliana 
2010-09-21 | E-GEOD-22953 | biostudies-arrayexpress
ProteomicsThe ambiguous Caveolin-3 G55S sequence variant: Muscle biopsy findings and cell biological analysis
Caveolins are structural and functional proteins in plasma membrane invaginations called caveolae. Mutations in Caveolin-3 cause myopathies of variable severity. The pathogenicity of the Caveolin-3 variant G55S is still unclear. Here, we report on three patients suffering from mild to moderate myopa...
ORGANISM(S): Homo sapiens (Human) 
2018-07-05 | PXD003719 | Pride
Lgmd1d Rcmh Caveolin-3 Proteome profile of muscle cells 
TranscriptomicsAutocatalytic differentiation of epigenetic modifications within the Arabidopsis genome
This SuperSeries is composed of the following subset Series: GSE22953: Genome-wide analysis of H3K9me2 in ibm1, kyp, and cmt3 mutants of Arabidopsis thaliana GSE22957: Genome-wide expression analysis in kyp and cmt3 mutants of Arabidopsis thaliana Refer to individual Series
ORGANISM(S): Arabidopsis thaliana 
2010-09-21 | E-GEOD-23030 | biostudies-arrayexpress
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