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TranscriptomicsMisregulation of alternative splicing of BIN1 leads to T-tubule alterations and muscle weakness in myotonic dystrophy
Myotonic dystrophes (DM), the most common adult muscular dystrophy, are the first recognized examples of RNA-mediated diseases in which expression of mutant RNAs containing expanded CUG or CCUG repeats interfere with the splicing of other mRNAs. Using whole-genome microarrays, we found that alternat...
ORGANISM(S): Homo sapiens 
2011-05-26 | E-GEOD-21795 | biostudies-arrayexpress
TranscriptomicsRNA sequencing of heart samples of myotonic dystrophic (DM1) patients
Analysis of alternative splicing in heart (left ventricles) samples of 3 adult DM1 patients versus 3 adult controls PolyA RNA from left ventricles (heart) of 3 controls and 3 DM1 patients were analysed by massive parrallel sequencing
ORGANISM(S): Homo sapiens 
2015-04-14 | E-GEOD-67812 | biostudies-arrayexpress
TranscriptomicsAntagonistic role of MBNL1 and LIN28 promotes specific alteration of pre-miR-1 processing and is associated with heart defects in DM
Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy in adults, is caused by the expression of expanded CUG repeats, which sequester the MBNL1 RNA binding protein. Cardiac involvement, which is characterized by conduction defects and arrhythmias, is the second cause of death of DM1 pa...
ORGANISM(S): Homo sapiens 
2011-05-26 | E-GEOD-24109 | biostudies-arrayexpress
ProteomicsGGC repeat expansions within novel open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy
3 to 6% of the human genome is composed of microsatellite sequences, which are short DNA elements composed of 2 to 6 nucleotide motifs repeated in tandem. Expansion of a subset of these microsatellites is the leading cause of >60 diseases. However, most of these mutations are located in sequences an...
ORGANISM(S): Homo sapiens (Human) 
2026-02-03 | PXD071983 | Pride
Polyglycine protein Oculopharyngodistal myopathy Microsatellite sequences 
Genomicsena-DATASET-IPPTS-27-02-2017-14:56:21:344-317 - samples
Exome sequencing for 2 infertile brothers
EGAD00001003193 | EGA
GenomicsA no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family
Purpose: The purpose of this study was to identify mutations that cause non-syndromic male infertility using whole exome sequencing of family cases.Methods: We recruited a consanguineous Turkish family comprising nine siblings with male triplets; two of the triplets were infertile as well as one you...
EGAS00001002272 | EGA
GenomicsMAGEB4:X-linked cause of inherited male infertility
Data Access Committee EGAC00001000599
EGAC00001000599 | EGA
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