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TranscriptomicsExpression data from Parkison's iPSCs with four copies of SNCA, and equivalent cell lines from an unaffected first degree relative
A major barrier to research on Parkinson’s disease (PD) is inaccessibility of diseased tissue for study. One solution is to derive induced pluripotent stem cells (iPSCs) from patients with PD and differentiate them into neurons affected by disease. We created an iPSC model of PD caused by triplicati...
ORGANISM(S): Homo sapiens 
2011-09-14 | E-GEOD-30792 | biostudies-arrayexpress
TranscriptomicsSNP data from genomic DNA from a subject, fibroblasts, iPSCs and neurons with four copies of SNCA, and genomic DNA from an unaffected first degree relative and equivalent cell lines
A major barrier to research on Parkinson’s disease (PD) is inaccessibility of diseased tissue for study. One solution is to derive induced pluripotent stem cells (iPSCs) from patients with PD and differentiate them into neurons affected by disease. We created an iPSC model of PD caused by triplicati...
ORGANISM(S): Homo sapiens 
2011-09-14 | E-GEOD-28366 | biostudies-arrayexpress
TranscriptomicsExpression data from fibroblasts, iPSCs and neurons with four copies of SNCA, and equivalent cell lines from an unaffected first degree relative
A major barrier to research on Parkinson’s disease (PD) is inaccessibility of diseased tissue for study. One solution is to derive induced pluripotent stem cells (iPSCs) from patients with PD and differentiate them into neurons affected by disease. We created an iPSC model of PD caused by triplicati...
ORGANISM(S): Homo sapiens 
2011-09-14 | E-GEOD-28365 | biostudies-arrayexpress
UnknownDominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Not available
S-EPMC5591020 | biostudies-literature
GenomicsNINDS-Genome-Wide Genotyping in Parkinson's Disease: First Stage Analysis and Public Release of Data

Epidemiological studies have estimated a cumulative prevalence of PD of greater than 1 per thousand. When prevalence is limited to senior populations, this proportion increases nearly 10-fold. The estimated genetic risk ratio for PD is approximately 1.7 (70% increased risk for PD if a sibling...

phs000089.v3.p2 | EGA
UnknownDetailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Not available
S-EPMC10952845 | biostudies-literature
GenomicsChIP-seq experiment to determine the genomic binding sites of mutant V5-tagged ZFHX2 R1913K protein in a stable-expressing human SH-SY5Y neuroblastoma cell line
A novel missense mutation has been identified in a human pain-insensitive family in the gene ZFHX2. We modelled this mutation in mice by changing the orthologous amino acid and carried out pain behaviour tests in mutant BAC transgenic mice. These showed a phenotype of hyposensitivity to noxious ther...
ORGANISM(S): Homo sapiens 
2018-06-11 | E-MTAB-5651 | biostudies-arrayexpress
TranscriptomicsMicroarray of BAC transgenic Zfhx2 p.R1907K mutant mice (4 genomic copies) versus wild-types
A novel missense mutation has been identified in a human pain-insensitive family in the gene ZFHX2. We modelled this mutation in mice by changing the orthologous amino acid and carried out pain behaviour tests in mutant BAC transgenic mice. These showed a phenotype of hyposensitivity to noxious ther...
ORGANISM(S): Mus musculus 
2018-06-11 | E-MTAB-5650 | biostudies-arrayexpress
UnknownContinuous Glucose Monitoring in Pregnancy: Importance of Analyzing Temporal Profiles to Understand Clinical Outcomes.
Not available
S-EPMC7245356 | biostudies-literature
UnknownBiallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Not available
S-EPMC8956360 | biostudies-literature
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