Sökning: "mutational analysis"

Visar resultat 11 - 15 av 116 avhandlingar innehållade orden mutational analysis.

1. 11. Genomic profiling of breast cancer by microarray-based technology and bioinformatics

   Författare :Johan Staaf; Bröstcancer-genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Survival; Prognostic predictor; Gene Expression; ERBB2; HER2; Microarray; Copy Number Analysis; CGH; aCGH; Amplification; Gene expression analysis;

   Sammanfattning : Cancer is a genetic disease that arises when a cell acquires unlimited growth potential through a series of mutational events, which target genes essential for normal cell control and maintenance. Breast cancer is one of the most frequent malignancies in women worldwide, and it is characterized by heterogeneous tumor biology, histological subtypes, variable prognosis and variable responsiveness to treatment. LÄS MER

3. 12. Molecular genetic studies on cystinuria

   Författare :Lotta Harnevik; Peter Söderkvist; Catharina Larsson; Linköpings universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amino acid transport systems; Amino acids diamino; Mutation; Sulphydryl compounds; urine; Cystine; Carrier proteins; Cystinuria; DNA mutational analysis; Dog diseases; genetic; Membrane glycoproteins; Medical genetics; Medicinsk genetik;

   Sammanfattning : Cystinuria is defined as an inherited disorder characterized by increased urinary excretion of cystine and the dibasic amino acids arginine, lysine and ornithine. The only clinical manifestation of cystinuria is renal cystine stone formation due to the low solubility of cystine in the urine. LÄS MER

4. 13. Development and Application of Microarray-Based Comparative Genomic Hybridization : Analysis of Neurofibromatosis Type-2, Schwannomatosis and Related Tumors

   Författare :Patrick Buckley; Jan Dumanski; Olivier Delattre; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genomic microarray; Array-CGH; DNA copy number variation; Neurofibromatosis type-2; Schwannomatosis; Schwannoma; Meningioma; NF2; Chromosome 22; Genetik; Clinical genetics; Klinisk genetik;

   Sammanfattning : Neurofibromatosis type-2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilateral eighth cranial nerve schwannomas. However, the diagnostic criterion is complicated by the presence of a variable phenotype, with the severe form presenting with additional tumors such as peripheral schwannoma, meningioma and ependymoma. LÄS MER

5. 14. From Tissue to Mutations : Genetic Profiling of Colorectal Cancer

   Författare :Lucy Mathot; Tobias Sjöblom; Mats Nilsson; Alberto Bardelli; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Nucleic acid extraction; genotyping; targeted sequencing; mutation analysis; colorectal cancer; metastatic disease; Medical Science; Medicinsk vetenskap;

   Sammanfattning : Comprehensive characterisation of the mutational landscapes of solid tumours is a multistep process involving the collection of suitable samples, the extraction of nucleic acids and the preparation of these materials for mutational analyses. In this thesis, I aimed to develop a streamlined process for the analysis of colorectal cancer (CRC) patient samples in order to identify novel mutations that hallmark the development of advanced disease. LÄS MER

7. 15. In silico analysis of pathways targeted by EBV infection and malignant transformation

   Författare :Ramakrishna Rao Sompallae; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Bioinformatics; systems biology; gene expression analysis; Epstein-Barr virus; Burkitt s lymphoma;

   Sammanfattning : Epstein-Barr virus (EBV) is a ubiquitous γ-herpes virus with dual cell tropism for human B-lymphocytes and epithelial cells. EBV infection is linked to several malignancies such as Burkitt s lymphoma (BL) and nasopharyngeal carcinoma (NPC). LÄS MER