EGAD00001000348
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001000348 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:This pilot study aims to generate pilot data to inform future study designs by resequencing the whole exomes of 10 unrelated individuals diagnosed with Bilateral Anophthalmia.
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Project description:This pilot study aims to generate pilot data to inform future study designs by resequencing the whole exomes of 10 unrelated individuals diagnosed with Congenital Heart Disease (CHD).
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Project description:This pilot study aims to generate pilot data to inform future study designs by resequencing the whole exomes of 10 unrelated individuals diagnosed with Congenital Heart Disease (CHD).
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Project description:This pilot study aims to generate pilot data to inform future study designs in consanguineous families or inbred populations by resequencing the exome of six individuals from five families with neurodevelopmental diseases. For all of these families a single mapping interval containing the causal variant has previously been identified.
| EGAD00001000341 | EGA
Project description:This pilot study aims to generate pilot data to inform future study designs in consanguineous families or inbred populations by resequencing the exome of six individuals from five families with neurodevelopmental diseases. For all of these families a single mapping interval containing the causal variant has previously been identified.
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Project description:Canine Tumor Sequencing - Pilot Project (Exomes)
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Project description:Epidemiologic data suggest that a Western dietary pattern after diagnosis of colorectal cancer increases risk of disease recurrence and death. High intake of red and processed meat, dairy, refined grains, and sweets/desserts characterize a ‘Western dietary pattern’. This study aims to translate the epidemiologic findings into a patient-centered, web-based dietary intervention with text messaging to inform and modify users’ dietary choices. The investigators’ specific aims are to: 1) Develop a web-based dietary intervention with text messaging for colorectal cancer survivors; and 2) Conduct a 12-week pilot randomized controlled trial to determine the acceptability and feasibility of the dietary intervention among 50 colorectal cancer survivors. All participants will receive standard of care print materials regarding diet following a colorectal cancer diagnosis. Participants in the intervention group will also receive access to a web-based dietary intervention with text messaging for 12 weeks. This study will generate preliminary data on the effect of the intervention on dietary choices among colorectal cancer survivors for future studies.
| 2229969 | ecrin-mdr-crc
Project description:This retrospective multicenter pilot study aims to determine potential cell-free microRNAs (cfmiRs) that identify patients with primary GBM (pGBM) tumors and to monitor Glioblastoma (GBM) recurrence.
2023-05-26 | GSE184472 | GEO
Project description:Glioblastoma multiforme (GBM) is a highly aggressive primary brain cancer with significant transcriptomic heterogeneity among patients. Our study aims to contribute to the field of personalized medicine for GBM patients by providing comprehensive transcriptomic profiles of GBM patients (N = 45) who underwent concurrent chemoradiotherapy with temozolomide at Seoul National University Hospital. Additionally, we include transcriptomic profiles of normal brain tissue obtained from GBM patients. This dataset may add depth to existing knowledge by uncovering distinct transcriptomic signatures related to aggressiveness in GBM, and may inform future research on the molecular mechanisms underlying transcriptomic features of GBM and personalized treatment strategies.
2024-04-14 | GSE263588 | GEO
Project description:Background: Moyamoya is a cerebrovascular condition of unknown mechanism characterized by a progressive stenosis of the terminal part of the internal carotid arteries (ICA) and the compensatory development of abnormal “moyamoya” vessels. It leads to ischemic and hemorrhagic stroke. We describe a novel autosomal recessive disease leading to severe moyamoya and early onset achalasia and report its cause in 3 unrelated families. Methods: We used a combination of genetic linkage and exome sequencing in 2 consanguineous to identify rare shared variants. Sanger sequencing of GUCY1A3, the sole gene mutated in both families, was then conducted in the third family. Platelets from one of the patients and controls were used to carry out functional studies. Results: Homozygous mutations of GUCY1A3 gene encoding the alpha1 subunit of soluble guanylate cyclase (sGC), the major receptor for Nitric Oxide (NO), were identified in all 3 families. Platelet analysis showed a complete loss of the mutated protein and showed an unexpected stimulatory role of sGC within platelets. Conclusion: The NO/sGC/cGMP pathway is a major pathway controlling vascular smooth muscle (VSMC) relaxation, vascular tone and vascular remodeling. Our data suggest that alterations of this pathway may lead to an abnormal vascular remodeling process in sensitive vascular areas with low blood A total of 17 samples (8 affected and 9 unaffected) were used for this study. Linkage analysis was performed in a single informative consanguine family composed of 2 unaffected parents, 4 affected siblings and 3 unaffected siblings. Two affected samples in two different families were used for the exome sequencing analysis and results were compared to 20 control exomes (in-house exomes from IntegraGen, Evry, France) and 8 HapMap exomes. All samples were used for Sanger Sequencing confirmation.
2014-06-19 | E-GEOD-48099 | biostudies-arrayexpress