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TranscriptomicsL-Glutamine metabolism and its regulation in C. glutamicum
Corynebacterium glutamicum, a gram-positive soil bacterium used for the industrial production of amino acids such as L-glutamate and L-lysine, is able to use a number of different nitrogen sources, such as ammonium, urea, or creatinine. In this communication, we show that L-glutamine serves as an ex...
ORGANISM(S): Corynebacterium glutamicum ATCC 13032 
2010-10-05 | E-GEOD-19779 | biostudies-arrayexpress
TranscriptomicsTranscriptome comparison between CHOPS syndrome and Cornelia de Lange syndrome
CHOPS syndrome is caused by germline gain-of-function mutations of AFF4. Cornelia de Lange syndrome is caused by germline mutations of cohesin loading factors or cohesin complex genes such as NIPBL, SMC1A, SMC3 and HDAC8. There are many overlapping clinical features exist between CHOPS syndrome an...
ORGANISM(S): Homo sapiens 
2015-01-27 | E-GEOD-64034 | biostudies-arrayexpress
TranscriptomicsGenome wide DNA Methylation Study in Cornelia de Lange Syndrome
Differential DNA methylation was identified in CdLS, and correlates to cohesin binding as well. However, DNA methylation may only be one of several events that regulate gene expression in humans. 63 Lymphoblastoid cell lines (LCLs) from 39 CdLS probands, 2 RBS probands and 22 gender and racial match...
ORGANISM(S): Homo sapiens 
2010-07-07 | E-GEOD-18458 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of Cornelia de Lange Syndrome proband derived cell lines reveals defective cohesin in cdls mediates gene expression with characteristics of transcription factor and insulator activity
The Cohesin apparatus has a canonical role in sister chromatid cohesion. Heterozygous mutations in Nipped B-like (NIPBL), SMC1A, and SMC3 have been found in 60% of probands with Cornelia de Lange Syndrome (CdLS), a dominant multi-system genetic disorder with variable expression. We have performed a ...
ORGANISM(S): Homo sapiens 
2009-06-08 | E-GEOD-12408 | biostudies-arrayexpress
UnknownL-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome.
Not available
S-EPMC4351377 | biostudies-literature
TranscriptomicsSMC2: a candidate gene associated with Cornelia de Lange Syndrome
whole-genome aCGH analysis also showed us that the patient carried a 12.01-1M Mb deletion region at chromosome bands 9q31.1-q32 (105,190,105-117,195,154). The deleted region encompasses 22 genes including SMC2 Two-condition Samples, Cornelia de Lange Syndrome vs. Normal cells.
ORGANISM(S): Homo sapiens 
2015-01-23 | E-GEOD-54354 | biostudies-arrayexpress
UnknownIncreased L-type calcium current causes action potential prolongation in Jervell and Lange-Nielsen syndrome and is a drug target.
Not available
S-EPMC11957160 | biostudies-literature
UnknownComparative effects of 3,5-diiodo-L-thyronine and 3,5,3'-triiodo-L-thyronine on mitochondrial damage and cGAS/STING-driven inflammation in liver of hypothyroid rats.
Not available
S-EPMC11410700 | biostudies-literature
TranscriptomicsNuclear SLIC-CAGE of human cortical neurons from Cornelia de Lange Syndrome patients and control individuals
We used SLIC-CAGE to map transcriptional start sites in cortical neurons from Cornelia de Lange Syndrome (CdLS) patients and control individuals. SLIC-CAGE was performed using nuclear RNA isolated from pre-frontal cortical grey matter. Usage of nuclear RNA allows enrichment of unstable RNAs, such as...
ORGANISM(S): Homo sapiens 
2021-02-27 | E-MTAB-9045 | biostudies-arrayexpress
GenomicsGeneration of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas based technology
Cornelia de Lange syndrome (CdLS) is an autosomal dominant disease mainly caused by mutations in the Nipped-B-like protein (NIPBL) gene resulting in the alteration of the cohesin pathway. Here, we generated human induced pluripotent stem cells (hiPSCs) from a CdLS patient carrying a mutation in the ...
ORGANISM(S): Homo sapiens 
2023-03-17 | E-MTAB-11604 | biostudies-arrayexpress
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