Db140b52-4229-4d8a-a5e5-62b4e602d78c - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001006780 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:Whole genome sequencing BAMs of DNA obtained from blood/saliva of 8 patients with adult granulosa cell tumors. These patients come from four independent families, with each family having 2 affected family members.
| EGAS00001004902 | EGA
Project description:<p>We have an ongoing study that has recruited families having at least a sibling pair with Parkinson disease (PD). Families have been screened for mutations in known PD causative genes (LRRK2, parkin, etc). Following review of families without a causative mutation, we selected families for whole exome sequencing that had the strongest history of PD and with the most definitive diagnosis. All families have at least 3 affected family members who were evaluated as part of this study. Only affected family members were included for whole exome sequencing.</p>
| phs000376.v1.p1 | EGA
Project description:In animals, microRNAs frequently form families with related sequences. The functional relevance of miRNA families and the relative contribution of family members to target repression have remained, however, largely unexplored. Here, we used the C. elegans miR-58 miRNA family, comprised primarily of four highly abundant members: miR-58.1, miR-80, miR-81 and miR-82, as a model to investigate the redundancy of miRNA family members and their impact on target expression in an in vivo setting.
2015-06-05 | GSE60420 | GEO
Project description:In animals, microRNAs frequently form families with related sequences. The functional relevance of miRNA families and the relative contribution of family members to target repression have remained, however, largely unexplored. Here, we used the C. elegans miR-58 miRNA family, comprised primarily of four highly abundant members: miR-58.1, miR-80, miR-81 and miR-82, as a model to investigate the redundancy of miRNA family members and their impact on target expression in an in vivo setting.
2015-06-05 | GSE60419 | GEO
Project description:In animals, microRNAs frequently form families with related sequences. The functional relevance of miRNA families and the relative contribution of family members to target repression have remained, however, largely unexplored. Here, we used the C. elegans miR-58 miRNA family, comprised primarily of four highly abundant members: miR-58.1, miR-80, miR-81 and miR-82, as a model to investigate the redundancy of miRNA family members and their impact on target expression in an in vivo setting. RNA was extracted from different miR-58 family mutants (mir-58.1, mir-80; mir-58.1 and mir-80; mir-58.1; mir-81-82) and wild-type Bristol C. elegans strain at late L4 stage and submitted to small RNA profiling with Illumina HiSeq2000. The goal was to see whether miR-58 family members can compensate each other's expression.
2015-06-05 | E-GEOD-60419 | biostudies-arrayexpress
Project description:RNA sequencing dataset for primary and recurrent ovarian granulosa cell tumors consists of 24 .bam files with aligned reads, including 8 primary and 16 recurrent tumors.
Total RNA was extracted from cryopreserved tissue of adult-type granulosa cell tumor samples. Libraries were prepared from cDNA using the NuGEN Ovation Ultralow Library System V2 (San Carlos, CA). Paired-end bulk RNA sequencing was performed on the Illumina HiSeq 2000 platform. RNA sequencing reads were aligned to the hg19/GRCh37 reference human genome using the STAR software (version 2.6.0b) with default parameters.
Samples description:
GCT001 Adult-type Granulosa Cell Tumor: recurrent tumor
GCT002 Adult-type Granulosa Cell Tumor: primary tumor
GCT003 Adult-type Granulosa Cell Tumor: recurrent tumor
GCT004 Adult-type Granulosa Cell Tumor: primary tumor
GCT005 Adult-type Granulosa Cell Tumor: recurrent tumor
GCT006 Adult-type Granulosa Cell Tumor: recurrent tumor
GCT007 Adult-type Granulosa Cell Tumor: primary tumor
GCT008 Adult-type Granulosa Cell Tumor: recurrent tumor
GCT009 Adult-type Granulosa Cell Tumor: recurrent tumor
GCT010 Adult-type Granulosa Cell Tumor: recurrent tumor
GCT011 Adult-type Granulosa Cell Tumor: primary tumor
GCT012 Adult-type Granulosa Cell Tumor: recurrent tumor
GCT013 Adult-type Granulosa Cell Tumor: recurrent tumor
GCT014 Adult-type Granulosa Cell Tumor: recurrent tumor
GCT015 Adult-type Granulosa Cell Tumor: recurrent tumor
GCT016 Adult-type Granulosa Cell Tumor: recurrent tumor
GCT017 Adult-type Granulosa Cell Tumor: recurrent tumor
GCT018 Adult-type Granulosa Cell Tumor: primary tumor
GCT019 Adult-type Granulosa Cell Tumor: recurrent tumor
GCT020 Adult-type Granulosa Cell Tumor: primary tumor
GCT021 Adult-type Granulosa Cell Tumor: primary tumor
GCT022 Adult-type Granulosa Cell Tumor: recurrent tumor
GCT023 Adult-type Granulosa Cell Tumor: recurrent tumor
GCT024 Adult-type Granulosa Cell Tumor: primary tumor
| EGAD00001009108 | EGA
Project description:In animals, microRNAs frequently form families with related sequences. The functional relevance of miRNA families and the relative contribution of family members to target repression have remained, however, largely unexplored. Here, we used the C. elegans miR-58 miRNA family, comprised primarily of four highly abundant members: miR-58.1, miR-80, miR-81 and miR-82, as a model to investigate the redundancy of miRNA family members and their impact on target expression in an in vivo setting. RNA was extracted from different miR-58 family mutants (mir-58.1, mir-80; mir-58.1 and mir-80; mir-58.1; mir-81-82) and wild-type Bristol C. elegans strain at late L4 stage and submitted to transcriptome sequencing with Illumina HiSeq2000. The goal was to compare miR-58 target RNA expression and system-wide perturbations across various samples.
2015-06-05 | E-GEOD-60420 | biostudies-arrayexpress
Project description:In more than 70% of families with a strong history of breast and ovarian cancers, pathogenic mutation in BRCA1 or BRCA2 cannot be identified, even though hereditary factors are expected to be involved. It has been proposed that tumors with similar molecular phenotypes also share similar pathophysiological mechanisms. Grouping into molecularly homogeneous subsets may therefore be of potential value for further genetic analysis in order to identify new high penetrance breast cancer genes. In the current study, the aim was to investigate if global RNA profiling can be used to identify functional subgroups within breast tumors from families tested negative for BRCA1/2 germline mutations and how these subgroupings relate to different breast cancer patients within the same family. By analyzing a collection of 70 breast tumor biopsies from 58 families, we show that distinct functional subgroupings, similar to the intrinsic molecular breast cancer subtypes, exist. The distribution of subtypes was markedly different from the distribution found among BRCA1/2 mutation carriers. From 11 breast cancer families, breast tumor biopsies from more than one affected family member were included in the study. Notably, in 8 of these families we found that patients from the same family shared the same tumor subtype, showing a tendency of familial aggregation of tumor subtypes (p-value = 1.7e-3). Our finding indicates involvement of hereditary factors in these families in which family members may carry genetic susceptibility not just to breast cancer but to a particular subtype of breast cancer. Using our previously developed BRCA1/2-signatures, we identified 7 non-BRCA1/2 tumors with a BRCA1-like molecular phenotype and provide evidence for epigenetic inactivation of BRCA1 in three of the tumors. In addition, 7 BRCA2-like tumors were found. This is the first study to provide a biological link between breast cancers from family members of high risk non-BRCA1/2 families in a systematic manner, suggesting that future genetic analysis may benefit from subgrouping families into molecularly homogeneous subtypes in order to identify new high penetrance susceptibility genes.
2015-08-01 | GSE49481 | GEO
Project description:In more than 70% of families with a strong history of breast and ovarian cancers, pathogenic mutation in BRCA1 or BRCA2 cannot be identified, even though hereditary factors are expected to be involved. It has been proposed that tumors with similar molecular phenotypes also share similar pathophysiological mechanisms. Grouping into molecularly homogeneous subsets may therefore be of potential value for further genetic analysis in order to identify new high penetrance breast cancer genes. In the current study, the aim was to investigate if global RNA profiling can be used to identify functional subgroups within breast tumors from families tested negative for BRCA1/2 germline mutations and how these subgroupings relate to different breast cancer patients within the same family. By analyzing a collection of 70 breast tumor biopsies from 58 families, we show that distinct functional subgroupings, similar to the intrinsic molecular breast cancer subtypes, exist. The distribution of subtypes was markedly different from the distribution found among BRCA1/2 mutation carriers. From 11 breast cancer families, breast tumor biopsies from more than one affected family member were included in the study. Notably, in 8 of these families we found that patients from the same family shared the same tumor subtype, showing a tendency of familial aggregation of tumor subtypes (p-value = 1.7e-3). Our finding indicates involvement of hereditary factors in these families in which family members may carry genetic susceptibility not just to breast cancer but to a particular subtype of breast cancer. Using our previously developed BRCA1/2-signatures, we identified 7 non-BRCA1/2 tumors with a BRCA1-like molecular phenotype and provide evidence for epigenetic inactivation of BRCA1 in three of the tumors. In addition, 7 BRCA2-like tumors were found. This is the first study to provide a biological link between breast cancers from family members of high risk non-BRCA1/2 families in a systematic manner, suggesting that future genetic analysis may benefit from subgrouping families into molecularly homogeneous subtypes in order to identify new high penetrance susceptibility genes. Gene expression profiling of 253 breast tumor samples. Breast tumor tissue from 125 patients with germline mutations in BRCA1 (n = 33) or BRCA2 (n = 22) or with no detectable germline mutation in BRCA1 or BRCA2 (n = 70) were included in the study. Serving as a representative control group, primary breast tumor samples (n = 128) were randomly selected among available samples originating from the same department and time period as for the hereditary samples. The study was conducted using Agilent-029949 Custom SurePrint G3 Human GE 8x60K Microarray platform.
2015-08-01 | E-GEOD-49481 | biostudies-arrayexpress
Project description:41% of all oral carcinomas have been found to localize at tongue, where they were characterized as being aggressive and having capacity to locally invade and relapse frequently. Despite considerable enhancements in the cancer diagnosis and treatment techniques, tongue squamous cell carcinoma (TSCC) still remains to be one of the most common and lethal cancer types in the head and neck region. In this study, we aimed to identify a signature of saliva-specific microRNAs (miRNAs) expression in TSCC patients. To explore putative diagnostic biomarkers, we compared the miRNA profiles of saliva samples obtained from 3 TSCC patients and 4 healthy control individual using Agilent miRNA microarray (V19). Three of the differentially expressed miRNAs were selected for further validation with quantitative reverse-transcription PCR (qRT-PCR) using saliva samples of 25 TSCC patients and 25 healthy control individuals. Microarray analysis demonstrated that 428 miRNA probes were deregulated in TSCC patients when compared to control group and qRT-PCR results validated the reduced expression of miR-139-5p in TSCC saliva. Further analysis of post-operative saliva samples of TSCC patients revealed that miR-139-5p level elevated to normal level after surgery, pointing its diagnostic and prognostic power. As a conclusion, we propose saliva as a feasible source in routine patient examination for early diagnosis of TSCC patients, and our results suggest saliva miR-139-5p as a novel potential diagnostic marker.
2016-10-20 | GSE69002 | GEO