14680 results for "PLOS+ONE+Pennsylvania+German+ACS+language+code+pdc+open+access+study"

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• ChIP-seq data in MSC_Pat and EWIma1 (FLI1 & H3K27ac)

  Ewing sarcoma is characterized by pathognomonic translocations fusing most frequently EWSR1 with FLI1 (EF1). In addition, Ewing sarcoma can also display alterations in STAG2, TP53 and CDKN2A (SPC). Starting from Ewing sarcoma derived human mesenchymal stem cells (MSCpat), we recapitulated this translocation and SPC alterations using a CRISPR/cas9 approach and generated a bona fide Ewing sarcoma model (EWIma1) displaying transcriptomic and epigenetic hallmarks of EwS.

  Study EGAS50000001172

• RNA-seq data in hMPC, MSC_Pat and EWIma

  Ewing sarcoma is characterized by pathognomonic translocations fusing most frequently EWSR1 with FLI1 (EF1). In addition, Ewing sarcoma can also display alterations in STAG2, TP53 and CDKN2A (SPC). Starting from Ewing sarcoma derived human mesenchymal stem cells (MSCpat), we recapitulated this translocation and SPC alterations using a CRISPR/cas9 approach and generated a bona fide Ewing sarcoma model (EWIma1) displaying transcriptomic and epigenetic hallmarks of EwS.

  Study EGAS50000001173

• Olink Explore Protein Expression

  Serum samples (DC, CRSsNP, CRSwNP, N-ERD, n=20 each) were subjected to the Olink Explore 3072 analysis including the following panels: Olink Explore 384 Cardiometabolic and Cardiometabolic II, Olink Explore 384 Inflammation and Inflammation II, Olink Explore 384 Neurology and Neurology II, Olink Explore Oncology and Oncology II. The latter had 4 failed samples. From the originally 2925 unique proteins determined, 84 proteins had missing values in all samples and were removed. Further 164 proteins had >50% of values below LOD across all four groups and were removed with remaining values below threshold adjusted to LOD. This data cleaning left 2695 unique assays (2677 unique proteins) in serum to be analysed. Additionally, six assays (LMOD1, IDO1, SCRIB, CXCL8, IL6, TNF) were measured four times each in different panel.

  Dataset EGAD50000001327

• SCANDARE TNBC transcriptomics data

  SCANDARE (NCT03017573) is a multicentric biobanking study, enrolling adult patients with newly diagnosed head and neck squamous cell carcinoma (HNSCC), triple negative breast cancer (TNBC), ovarian and cervical cancer. Tumor tissue and blood samples are collected at several time points during patient's journey, including at diagnosis, post-neoadjuvant chemotherapy in case of neoadjuvant treatment, at surgery, at recurrence and at disease progression following treatment initiated at recurrence. Since its launch in 2017 at Institut Curie, SCANDARE has enabled the longitudinal collection and preservation of samples for in-depth analyses. Here, we describe molecular alterations in 124 frozen samples (n=84 at baseline and n=40 paired at post-NAC surgery) from 91 TNBC patients using total RNAseq technology, with FASTQ files deposited in the dataset.

  Dataset EGAD50000001416

• Molecular Correlatives from SU2C-SARC032

  SU2C-SARC032 was a phase II international, randomized trial for patients with localized, high-risk undifferentiated pleomorphic sarcoma or dedifferentiated or pleomorphic liposarcoma of the extremity and limb girdle. On the trial, the addition of perioperative pembrolizumab to preoperative radiotherapy and surgery improved disease-free survival compared to preoperative radiotherapy and surgery alone. Bulk RNA-sequencing was performed on pre-treatment and surgically resected tumor specimens.

  Study phs003921

• RNA004 DRS METTL5 variant

  RNA004 is a method for direct RNA sequencing (DRS) that holds promise to enhance the detection of modopathies. To this end, we provide DRS data for a patient sample harboring heterozygous inactivating SNPs for the methyltransferase METTL5, which modifies m6A on 18S rRNA. Companion datasets are 1) EGAS50000001201 for DRS of a healthy control with intact METTL5 and 2) PRJEB74238 for IVT 18S rRNA vector data as unmodified control.

  Study EGAS50000001321

• Molecular profiles in early onset prostate cancer

  Paired germline (blood) and tumour samples were collected from prostate cancer cases <65 years at diagnosis to identify genetic changes in early onset prostate cancer.  Whole exome sequencing was performed on these samples. The aim was to determine if these changes are associated with more aggressive disease and to identify targets for treatment and screening by identifying associations with family history, DNA repair germline mutations, and clinical features.

  Study EGAS50000001467

• Genotype data from Nagahama cohort project

  Genotype data with basic phenotypes (age and gender) for 3693 samples from Nagahama Cohort project are provided. Genotyping are performed by A)Human610-Quad?B)HumanOmni2.5-4?C)HumanOmni2.5-8?D)HumanOmni2.5S?E)HumanCoreExome?F)HumanExome BeadChip from Illumina Inc. 1708, 1017, 185, 112, 479 and 192 samples are genotyped by A only, B only, C only, A+B+E, B+D+F and C+D+F respectively.

  Study JGAS000012

• Identification of genetic polymorphism on aggressive periodontitis

  Periodontitis is an inflammatory disease with loss of gingival tissue and alveolar bone. Aggressive periodontitis is rapidly progressive form of periodontitis in young people. It has been demonstrated that the susceptibility to AgP is influenced by genetic risk factors. However few were established as a risk factor for aggressive periodontitis. To identify genetic risk factors for aggressive periodontitis in Japanese population, we conducted the exome sequence of unrelated patients.

  Study JGAS000040

• Transcriptome analysis of iPSC-derived hepatocytes from Wilson's Disease patients and healthy controls

  To identify the differences in global gene expression patterns in WD-specific hepatocytes, we performed RNA-seq analysis. Six WD-specific hepatocytes and 6 healthy-donor (HD) hepatocytes were compared in total. The data suggested that our RNA-seq data were partially validated in the context of ATP7B deficiency and that these overlapped genes might be regulated by ATP7B deficiency among mammalian species in common.

  Study JGAS000382