Search for dissertations about: "gene amplification mechanism"

Showing result 1 - 5 of 41 swedish dissertations containing the words gene amplification mechanism.

2. 1. RAS-MAPK syndromes - a Clinical and Molecular Investigation

   Author : Anna-Maja Nyström; Marie-Louise Bondeson; Göran Annerén; Anna Wedell; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RAS-MAPK syndromes; Noonan syndrome; Neurofibromatosis type I; cardio-facio-cutaneous syndrome; mutation; multiplex ligation-dependent probe amplification; gene; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Klinisk genetik; Clinical Genetics;

   Abstract : The RAS-MAPK syndromes are a group of clinically and genetically related disorders, characterized by cardiac defects, facial dysmorphism, cutaneous abnormalities and neurocognitive impairment. The pathogenesis is dysregulation of the RAS-MAPK pathway, and several genes within the pathway are involved. READ MORE

4. 2. Studies of Fusion Oncogenes and Genomic Imbalances in Human Tumors

   Author : Fredrik Persson; Göteborgs universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cancer genetics; fusion oncogene; gene amplification; array CGH; PLAG1; HMGA2; FGFR1; MDM2; pleomorphic adenoma; carcinoma ex pleomorphic adenoma; liposarcoma;

   Abstract : Cancer is a genetic disease caused by mutations and chromosome rearrangements affecting oncogenes and tumor suppressor genes in particular. Molecular analyses of recurrent translocations in hematological disorders, as well as in certain solid tumor types, have shown that they frequently result in fusion oncogenes. READ MORE

5. 3. Mechanisms and Dynamics of Carbapenem Resistance in Escherichia coli

   Author : Marlen Adler; Linus Sandegren; Josep Casadesús; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; carbapenem; antibiotic resistance; fitness cost; ESBLs; penicillin-binding proteins; gene amplification;

   Abstract : The emergence of extended spectrum β-lactamase (ESBL) producing Enterobacteriaceae worldwide has led to an increased use of carbapenems and may drive the development of carbapenem resistance. Existing mechanisms are mainly due to acquired carbapenemases or the combination of ESBL-production and reduced outer membrane permeability. READ MORE

6. 4. Multi-Resistance Plasmids : Fitness Costs, Dynamics and Evolution

   Author : Fredrika Rajer; Linus Sandegren; Pål Jarle Johnsen; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; multi-resistance plasmids; evolution; fitness cost; dynamics; escherichia coli; ESBL; gene amplification; β-lactamase inhibitor; Biologi med inriktning mot mikrobiologi; Biology with specialization in Microbiology;

   Abstract : Antibiotic resistance is an escalating problem, not only due to less desirable treatment options and outcome, but also due to the economic burden to health care caused by resistant pathogens. Since the process of developing new antibiotics is slow, we need to carefully consider the usage of the antibiotics still available. READ MORE

7. 5. Comprehensive analysis of structural genomic alterations in cancer : Computational approaches for identifying cancer driver events

   Author : Babak Alaei-Mahabadi; Göteborgs universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Somatic structural variations; viral integrations; gene fusions; somatic genomic alterations;

   Abstract : The transformation of a normal cell into a cancer cell involves the accumulation of somatic DNA alterations that confer growth and survival advantages. These genomic alterations can be different in terms of pattern and size, comprising single nucleotide variants (SNVs), small insertions or deletions (indels), structural variations (SVs) or foreign DNA insertions such as viral DNA. READ MORE