16784 results for "sec+and+unspecified+malignant+neoplasm"

in 20.91 milliseconds.

• Department of Pathology and Tumor Biology, Kyoto University Data Access Committee

  Dac EGAC00001003220

• Data Access Commitee for single-cell analysis of multiple myeloma and precursors

  Dac EGAC00001002920

• Longitudinal DNA methylation in the Lothian Birth Cohorts of 1921 and 1936

  Dac EGAC00001000218

• Associations between APOE and cognitive ability in Generation Scotland.

  Dac EGAC00001000332

• Peter Mac Translational Breast Cancer Genomics and Therapeutics Lab Data Access Committee

  Dac EGAC00001000837

• DAC: Whole-genome and transcriptome sequencing of tumor-stage mycosis fungoides

  Dac EGAC00001000847

• The APL DAC comprises a clinician and biologist who conducted the study.

  Dac EGAC00001000865

• DAC for Integrated Genomic, Epigenetic, and Expression Analyses of Ovarian Cancer Cell Lines

  Dac EGAC00001001101

• Performance assessment of total RNA sequencing of human biofluids and extracellular vesicles

  Dac EGAC00001001591

• Human MPN RNA-seq and DNA methylation data requests committee

  Dac EGAC00001001688

• University of Helsinki Systems Biology and Turku University Hospital Data Access Committee

  Dac EGAC00001001978

• Data access committee for Gut microbiome of BA patients and normal controls

  Dac EGAC00001002146

• Department of Pathology and Tumor Biology, Kyoto University Data Access Committee

  Dac EGAC00001002205

• Variation and transmission of the human gut microbiota across generations - 16S data

  Dac EGAC00001002344

• Variation and transmission of the human gut microbiota across generations - shotgun data

  Dac EGAC00001002355

• "DAC for RNAseq from regions of insitu and invasive human mammary ductal disease"

  Dac EGAC00001002538

• DAC - U1085 Team Physiology and Physiopathology of the urogenital tract (INSERM / IRSET)

  Dac EGAC00001002830

• DAC - Liquid biopsy with matched tumor tissue and saliva: CRC + controls

  Dac EGAC00001002835

• Single-cell sequencing of adipose-derived mesenchymal stromal cells and dermal fibroblasts.

  Dac EGAC00001003062

• Mitochondrial DNA (mtDNA) analyses in patients with schizophrenia and healthy control individuals

  Study EGAS00001003269

• DAC for Clonal driver neoantigen loss under EGFR TKI and immune selection pressures

  Dac EGAC00001003522

• Single-cell multi-omics and mtDNA genotyping of human peripheral blood cells

  Dac EGAC50000000583

• ATAC-Seq and CTCF ChIP-Seq on the OCIAML-2 cell line

  Study EGAS00001004741

• Quantitative Exploratory Proteomics Analysis of Glioblastoma in Initial and Recurrent Tumors

  Study EGAS00001006395

• Activating AKT1 and PIK3CA mutations in metastatic castration-resistant prostate cancer

  Study EGAS00001004328

• Array-based methylation analysis of SDHB-deficient pheochromocytoma and paraganglioma

  Study EGAS00001007844

• Population Genomics of Native Americans from Andes and Amazon

  Study EGAS00001004639

• Atrial appendage miRNA-seq in non-, paroxysmal and persistent atrial fibrillation

  Study EGAS00001005296

• Human gut microbiome in babies with biliary atresia and normal controls

  Study EGAS00001005350

• RNAseq from regions of insitu and invasive human mammary ductal disease

  Study EGAS00001005370

• Optimisation of CITE-seq on liquid and solid tissues

  Study EGAS00001005849

• Oesophageal adenocarcinoma whole exome and RNA-seq raw sequencing data

  Study EGAS00001005957

• Treated and control Patient Derived Xenografts of colorectal cancer (CRC) samples

  Study EGAS00001006973

• Advanced iPSC-CMs maturation by integrating maturation medium, nanopatterning, and electrical stimulation

  Study EGAS00001007491

• EGAD00010000704

  610k genotyping imputed on Hapmap 3 and 1000G Phase 1 CEU

  Dataset EGAD00010000704

• saudi_qc_data

  Genotyped case and control sampes using HumanExome Beadchip

  Dataset EGAD00010000872

• Identification of intronic sequences promoting natural skipping of ABCA4 exon 15 using long-read transcriptomics and midigene assays

  Stargardt disease is an inherited retinal disease that leads to progressive loss of vision, and is caused by biallelic variants in the ABCA4 gene. A significant proportion of ABCA4 variants of variable penetrance affect pre-mRNA splicing. Previously, we observed the exclusion of certain ABCA4 exons into the final transcript in the absence of any disease-causing variants. In this study, we explored this phenomenon that we coined natural exon skipping (NES) for the entire ABCA4 transcript, using targeted RT-PCR analysis as well as long-read transcriptome sequencing of control retina samples. For the most abundant NES event, which is skipping of ABCA4 exon 15, overlapping ABCA4 deletion constructs were employed to identify responsible cis-regulatory sequence motifs. Subsequently, antisense oligonucleotides (AONs) were designed and tested to reverse NES and restore fully-spliced ABCA4 mRNA. We identified intronic regions on each side of exon 15 that, when deleted, increased the inclusion of exon 15 in the final transcripts. Interestingly, these motifs appear to work in a synergistic manner. Further fine-mapping of these regions revealed several cis-regulatory motifs that may be responsible for inducing NES, on each side of the exon. AONs targeting these motifs unfortunately did not decrease the skipping of exon 15. In conclusion, we discovered an intriguing phenomenon that, in the absence of disease-causing variants, results in the skipping of one or more exons in the ABCA4 transcript. These NES events appear to be regulated by cis-regulatory motifs within the flanking introns. This work captured the extend of NES throughout ABCA4 transcript and the role of cis-regulatory motifs in pre-mRNA splicing.. The use of AONs targeting cis-regulatory motifs is an innovative strategy for splicing modulation, suitable for complementing future variant-specific splicing modulation therapies in ABCA4 retinopathies.

  Study EGAS50000000071

• DAC for access to anonymised study data for UK and Norwegian AAD families

  Dac EGAC00001000333

• VIB Department of Molecular Genetics DAC AMG and NG

  Dac EGAC00001000395

• DAC Genomic and transcriptomic profiling of signalling networks in follicular lymphoma

  Dac EGAC00001000577

• DAC for the Canadian Biobank on Respiratory and Allergic diseases (CoBRA)

  Dac EGAC00001000901

• snRNA-seq in white matter post-mortem tissue from MS and controls - DAC

  Dac EGAC00001001105

• Germline TET2 and DNMT3A committee

  Dac EGAC00001001130

• Department of Hematology and Oncology, Nagoya City University Graduate School of Medical Sciences

  Dac EGAC00001001166

• Immune and Metabolic Features of Brain Metastases Melanoma (Cancer Discovery) Data Access Committee

  Dac EGAC00001001216

• Inherited CD28 deficiency in otherwise healthy patients with disseminated warts and giant horns

  Dac EGAC00001001835

• AGECAN - DAC (Interespecies conservation of brain specific DNA methylation in aging and cancer)

  Dac EGAC00001001840

• Single Cell Transcriptomics of peripheral immune cells pre- and post-Immune Checkpoint Blockade

  Dac EGAC00001002244

• single cell RNA-seq and ATAC-seq of human fetal forebrain tissue DAC

  Dac EGAC00001002599

• ALI-cultured PCD and non-PCD patient nasal epithelium transcriptome data access committee

  Dac EGAC00001002882