Sökning: "genomic profiling mutations"

Visar resultat 1 - 5 av 17 avhandlingar innehållade orden genomic profiling mutations.

1. 1. Understanding the Noise : Spliceosomal snRNA Profiling

   Författare :Lei Liu Conze; Anders Virtanen; Lars Wieslander; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; ncRNA; snRNA; U1; splice site; alternative splicing; high-throughput sequencing; 454; SNP; Molekylär cellbiologi; Molecular Cellbiology;

   Sammanfattning : The concept of the gene has been constantly challenged by new discoveries in the life sciences. Recent challenging observations include the high frequency of alternative splicing events and the common transcription of non-protein-coding-RNAs (ncRNAs) from the genome. The latter has long been considered noise in biological systems. LÄS MER

3. 2. Genomic Profiling, Mutations and Deranged Signaling in Esophageal Cancer and Hereditary Colorectal Cancer

   Författare :Anna Isinger Ekstrand; Institutionen för immunteknologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Esophageal cancer; hereditary cancer; HNPCC; copy number analysis; CGH; gene expression; Wnt; PIK3CA; CHEK2; gastric cancer; colorectal cancer;

   Sammanfattning : Esophageal cancer and colorectal cancer represents two major types of gastrointestinal tumors. Though refined surgery and introduction of novel chemotherapeutics have improved outcome, more than 2500 Swedes die from these diseases every year. Novel markers for early diagnosis, prognosis and treatment prediction are therefore needed. LÄS MER

4. 3. Genetic Profiling in Soft Tissue Sarcoma

   Författare :Princy Francis; Bröstcancer-genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; oncology; synovial sarcoma; prognosis; Cytology; SS18-SSX; intratumor heterogeneity; aCGH; array comparative genomic hybridization; gene expression analysis; microarray; cDNA; Soft tissue sarcoma; cancerology; Cytologi; onkologi; cancer;

   Sammanfattning : Soft tissue sarcomas (STS) are a heterogeneous group of highly malignant mesenchymal tumors that account for ~1% of all malignancies. Frequent heterogeneity and pleomorphism along with suboptimal diagnostic reproducibility and insufficient prognostic markers make clinical management of these tumors difficult. LÄS MER

5. 4. Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome

   Författare :Kiran K. Mantripragada; Jan P. Dumanski; Peter Lichter; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; array-CGH; neurofibromatoses; neurofibromatosis type 1; neurofibromatosis type 2; schwannomatosis; DiGeorge syndrome; 22q11 syndrome; chromosome 22; genomic microarrays; DNA copy number; Genetik; Clinical genetics; Klinisk genetik;

   Sammanfattning : Microarray-based comparative genomic hybridization (array-CGH) has emerged as a versatile platform with a wide range of applications in molecular genetics. This thesis focuses on the development of array-CGH with a specific aim to approach disease-related questions through improved strategies in array construction and enhanced resolution of analysis. LÄS MER

7. 5. Molecular Interrogation and Functional Studies of Acute Leukemia

   Författare :Axel Hyrenius Wittsten; Avdelningen för klinisk genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Acute leukemia; KMT2A; Cooperating Lesions; Clonal Relationship; Genomic Profiling; Fusion Genes;

   Sammanfattning : Hematological malignancies are defined by their underlying genetic alterations, many of which are used to diagnose patients to classify them to different risk groups that dictate the therapy given. Recent advances in high-throughput sequencing have highlighted the presence of co-occurring genetic lesions and that they may form distinct genetic clones that evolve throughout disease progression. LÄS MER