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TranscriptomicsExpression data from control and Smith-Lemli-Opitz syndrome patient-derived iPS cells - comparison of cholesterol deficient and cholesterol rich culture
7-dehydrocholesterol reductase catalyzes the reduction of 7-dehydrocholesterol to cholesterol. In Smith-Lemli-Opitz syndrome, mutations in DHCR7 prevents this conversion. We have found iPS cells derived from SLOS patients exhibit accelerated differentiation under cholesterol poor conditions. In th...
ORGANISM(S): Homo sapiens 
2015-09-18 | E-GEOD-61203 | biostudies-arrayexpress
TranscriptomicsArray results for differential gene expression in 661W, a mouse cone photoreceptor-derived cell line, comparing cells incubated with vehicle controls vs. those treated with either of two 7-dehdyrocholesterol-derived oxysterols or cholesterol
RELEVANCE: Smith-Lemli-Opitz syndrome (SLOS) is a human disease caused by mutations in the gene coding for the enzyme DHCR7 (7-dehydrocholesterol (7DHC) reductase), which catalyzes the final step of cholesterol biosynthesis. Accumulated 7DHC in tissues and body fluids of SLOS patients gives rise t...
ORGANISM(S): Mus musculus 
2021-03-20 | E-MTAB-10055 | biostudies-arrayexpress
Unknown7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome.
Not available
S-EPMC9519149 | biostudies-literature
UnknownBehavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.
Not available
S-EPMC3092600 | biostudies-literature
TranscriptomicsZea mays Transcriptome or Gene expression
In this study a transcriptomic approach (RNA-sequencing) was utilized to elucidate molecular responses of maize (Zea mays L.) primary roots of the inbred line B73 to water deficit to gain a better understanding of the mechanisms underlying drought tolerance. Kernels of the maize inbred line B73 were...
ORGANISM(S): Zea mays 
2014-05-03 | E-MTAB-4325 | biostudies-arrayexpress
UnknownA De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
Not available
S-EPMC5345063 | biostudies-literature
UnknownBiochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients.
Not available
S-EPMC8393612 | biostudies-literature
ProteomicsQuantitative Rps2 BioID to monitor Asc1-dependent rearrangement at the head region of the 40S ribosome
In a previous study we applied a quantitative proximity-labeling technique called Biotin Identification (BioID, Roux et al., 2012) to analyze the microenvironment of the Gβ-like scaffold protein Asc1 (Opitz et al., 2017). The WD40-repeat protein Asc1 binds to the head region of the small 40S ribosom...
ORGANISM(S): Saccharomyces cerevisiae (Baker's yeast) 
2019-11-07 | PXD015611 | Pride
Asc1 Bre5 Sro9 Bioid Def1 Stm1 Rps2 Silac Ribosome Rps3 Translation Ubp3 Saccharomyces cerevisiae Vps30 
UnknownFeeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome.
Not available
S-EPMC4177270 | biostudies-literature
TranscriptomicsZea mays Transcriptome or Gene expression
In this study RNA-sequencing was used to monitor gene expression changes in four tissues (meristematic zone, elongation zone, and cortex and stele of the mature zone) of maize (Zea mays L.) primary roots in response to water deficit to gain a better understanding of the mechanisms underlying drought...
ORGANISM(S): Zea mays 
2015-10-08 | E-MTAB-4297 | biostudies-arrayexpress
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