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ProteomicsBlood biomarkers in a cohort of patients with CHRNE-associated congenital myasthenic syndrome
Pathogenic variants in CHRNE encoding the epsilon subunit of acetyl choline receptor (AChR) result in impaired neuromuscular transmission and congenital myasthenic syndromes (CMS). Clinical manifestations include facial, ocular and limb fatigability and weakness, whereby severity of symptoms may var...
ORGANISM(S): Homo sapiens (Human) 
2025-05-07 | PXD054347 | Pride
Cms mirna Cms metabolites Cms biomarkers Plec Cms extracellular vesicles Cms white blood cells Cms amino acids 
TranscriptomicsmiRNA profiling in cytoplasmic male sterile (CMS) and its maintainer fertile (MF) lines of Brassica juncea by deep sequencing
Here, we employed high-throughput sequencing to identify microRNAs in CMS and its maintainer fertile (MF) lines of Brassica juncea. We identified 197 known and 78 new candidate microRNAs during reproductive development of B. juncea. A total of 47 differentially expressed microRNAs between CMS and it...
ORGANISM(S): Brassica juncea 
2013-05-15 | E-GEOD-43244 | biostudies-arrayexpress
GenomicsCongenital myasthenic syndrome in singapore
Congenital myasthenic syndromes in a Southeast Asian Adult Neurology Clinic: A long road to diagnosis and therapy
PRJEB107818 | ENA
GenomicsLarge conserved domains of low DNA methylation maintained by 5-hydroxymethycytosine and Dnmt3a (CMS bisulfite-seq)
Gains and losses in DNA methylation are prominent genomic features of all mammalian cell types. To gain insight into mechanisms that could promote shifts in DNA 5-hydroxymethylation (5hmc) patterns and thus contribute to cell fate, including malignant transformation, we performed genome-wide mappin...
ORGANISM(S): Mus musculus 
2014-01-22 | E-GEOD-53742 | biostudies-arrayexpress
GenomicsThe mitochondrial orf117Sha gene desynchronizes pollen development and causes pollen abortion in the Arabidopsis Sha CMS
Whole genome sequences (illumina technology) of mTALEN-produced fertile revertants of Arabidopsis thaliana CMS cytoline 39CV
ORGANISM(S): Arabidopsis thaliana 
2024-03-22 | E-MTAB-13393 | biostudies-arrayexpress
GenomicsDissecting the dynamic changes of 5-hydroxymethylcytosine in T cell development and differentiation [CMS-Seq]
The discovery of TET proteins, enzymes that oxidize 5-methylcytosine (5mC) in DNA, has revealed novel mechanisms for the regulation of DNA methylation. We have mapped 5-hydroxymethylcytosine (5hmC) at different stages of T cell development in the thymus and T cell differentiation in the periphery. ...
ORGANISM(S): Mus musculus 
2014-08-04 | E-GEOD-59212 | biostudies-arrayexpress
TranscriptomicsGenome-wide effect of conditioned media supernatant (CMS) derived from human endometrial stromal cells treated by long-acting progestin-only contraceptives (LAPCs) on Human endometrial endothelial cells
Analysis of differential gene expression in Human endometrial endothelial cells (HEECs) incubated with CMS derived from human endoemtrial stromal cells (HESCs) treated by LAPCs. We tested the hypothesis that paracrine factors sectreted from HESCs treated LAPCs, etonogestrol (ETO) or medorxyprogester...
ORGANISM(S): Homo sapiens 
2014-03-08 | E-GEOD-55691 | biostudies-arrayexpress
Transcriptomicsrfppr-Comparing nuclear gene expression in two CMS-systems using microarray technology
ra05-11_cmsrapeseed - rfppr - -To understand how/if fertility and the mitochondrial background are interlinked. -To understand how the mitochondrial background influences the nuclear gene expression. -Compare and describe the total nuclear gene expression of CMS vs. fertile and CMS vs. Restored. -De...
ORGANISM(S): Brassica napus 
2008-07-31 | E-GEOD-8820 | biostudies-arrayexpress
UnknownBiallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Not available
S-EPMC7959540 | biostudies-literature
UnknownCongenital myasthenic syndrome in Israel: Genetic and clinical characterization.
Not available
S-EPMC5280189 | biostudies-literature
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