Aa36756e-c639-4e79-979d-7a50a8bbe3b1 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001005321 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:The dataset includes the BAM files from WES experiments performed on a proband presenting with syndromic optic atrophy and his healthy parents - Family 2 in our study
| EGAD00001005344 | EGA
Project description:iPS cell lines were generated from a male with ASD (proband or prb) and his unaffected mother (control or ctrl). Both individuals carry X-linked 167kb microdeletions that disrupt both PTCHD1 and PTCHD1-AS. We found that cells PTCHD1/PTCHD1-AS-null cells tended to have abnormal karyotypes. Copy number variation analyses were performed to examine genomic stability in control and proband iPS cell lines.
2019-05-18 | GSE83089 | GEO
Project description:EAE mice were injected with LPC 18:1 and Isobaric C13-His at the optic nerve when they exhibited a clinical score of 2. Visual function was assessed via pattern electroretinogram and optic nerves were harvested 12 days post optic nerve injection. Optic nerves were processed for mass spectrometry to identify the integration of C13-His in newly synthesized proteins.
2022-02-17 | PXD025176 | Pride
Project description:In the L020 family with idiopathic non-syndromic X-linked intellectual disability, one repeat expansion co-occurs with down-regulation of the neighboring MIR222 gene. RNA was sequenced in the proband and three controls to detect what other genes might be affected by the altered MIR222 expression.
2017-12-01 | E-MTAB-5904 | biostudies-arrayexpress
Project description:The present study was carried out on a proband affected by Partial Androgen Insensitivity Syndrome (PAIS) and his family. The patient developed the primary RSC at 27 years. Three years after primary surgery, the patient developed a second primary (metachronous) rectal cancer relapsed one year later. The PAIS was also diagnosed in his cousin. Both cousins were found positive for the same missense androgen receptor (AR) gene mutation that was inherited from their asymptomatic mothers. The aim of this study was to identify constitutional genetic events that could have played a role in early onset of RSC in the proband. SNP-array analyses were carried out to investigate Copy Number Variations and Uniparental Disomy events as possible genetic causes linked to Colorectal Cancer pathogenesis.
2016-06-05 | GSE69613 | GEO
Project description:We identified a novel homozygous 15q13.3 microdeletion in a young boy with a complex neurodevelopmental disorder characterized by severe cerebral visual impairment with additional signs of congenital stationary night blindness (CSNB), congenital hypotonia with areflexia, profound intellectual disability, and refractory epilepsy. The mechanisms by which the genes in the deleted region exert their effect are unclear. In this paper we probed the role of downstream effects of the deletions as a contributing mechanism to the molecular basis of the observed phenotype. We analyzed gene expression of lymphoblastoid cells derived from peripheral blood of the proband and his relatives to ascertain the relative effects of the homozygous and heterozygous deletions. The proband with 15q13.3 homozygous deletion and his parents with 15q13.3 heterozygous deletions described in our previous report 15 were evaluated using Affymetrix aCGH-244K arrays (build hg18). The aCGH data were validated by qPCR using primers specific to CHRNA7 as previously described. 15 The extended family and comparison subjects were also screened using the CHRNA7 primers. Immortalized lymphoblastoid lines were created from the proband, his mother, father, a paternal half sister, a paternal half brother, a paternal grandmother and two paternal great uncles. Three lymphoblastoid lines from age- and sex- matched normally developing comparison subjects with normal chromosomes were obtained from the Coriell cell repository [(AG14724 (8 yo), AG14948 (10 yo), AG14980 (9 yo)] were used for gene expression comparison with the proband. The samples from the father, mother and paternal grandmother with heterozygous 15q13.3 deletions were compared to samples from lymphoblastoid cells from adult male and female subjects respectively (normal copy number for 15q13.3 determined by qPCR).
2013-02-17 | E-GEOD-43583 | biostudies-arrayexpress
Project description:SSBP1 mutations cause a complex optic atrophy spectrum disorder with mitochondrial DNA depletion
| EGAS00001004003 | EGA
Project description:The genetic defects leading to optic atrophy range from mitochondrial DNA (mtDNA) point mutations in Leber’s hereditary optic neuropathy (LHON), to dominant and recessive mutations affecting a cluster of nuclear genes implicated in mitochondrial dynamics. We performed WES in patients with an optic atrophy spectrum disorder, including retinal macular dystrophy and kidney insufficiency leading to transplantation, associated with mitochondrial DNA (mtDNA) depletion without accumulation of multiple deletions, to identify the genetic causes of this syndrome.
| EGAS00001003850 | EGA
Project description:The paired box gene 6 (PAX6) is an essential transcription factor for eye formation. Genetic alterations in PAX6 can lead to various ocular malformations including aniridia. The purpose of this study was to identify genetic defects as the underlying cause of familial coloboma of iris in a large Chinese family. After linkage analysis was carried out in this family, all exons of PAX6 in the proband were sequenced by the Sanger sequencing technique. Then the genome of the proband was evaluated by a microarray-based comparative genomic hybridization (aCGH). Quantitative real-time PCR was applied to verify the abnormal aCGH findings. All patients presented bilateral partial coloboma of iris, severe congenital nystagmus, hyperpresbyopia and congenital posterior polar cataracts. Two-point linkage analysis in the autosomal dominant family showed loss of heterozygosity at the D11S914 locus. There was no pathogenic mutation in the exons of PAX6. The aCGH analysis revealed a 681 kb heterozygous deletion on chromosome 11p13. Quantitative real-time PCR verified the deletion in the patients and further confirmed this deletion cosegregation with the coloboma of iris phenotype in the family. The 681 kb large deletion of chromosome 11p13 downstream of PAX6 is the genetic cause of the familial coloboma of ocular in this large Chinese family. aCGH should be applied if there is a negative result for the mutation detection of PAX6 in patients with aniridia.
2013-09-05 | GSE50577 | GEO