Search for dissertations about: "gene mutation"

Showing result 1 - 5 of 724 swedish dissertations containing the words gene mutation.

  2. 1. Genetic investigations of four neurological disorders : From phenotype to mutation

    Author : Anna Sillén; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pediatrics; genetic disease; chromosome; microsatellite; linkage analysis; mutation; Pediatrik; Paediatric medicine; Pediatrisk medicin; klinisk genetik; Clinical Genetics;

    Abstract : More than 5000, more or less rare, genetic diseases are known in man. A genetic disease is in most casesinherited from one generation to the next, and is caused by a change in the genetic code, a mutation. READ MORE

  4. 2. 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

  5. 3. Long QT syndrome in Sweden : founder effects and associated cardiac phenotypes

    Author : Annika Winbo; Annika Rydberg; Eric Schulze-Bahr; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Long QT Syndrome; Jervell and Lange-Nielsen Syndrome; inherited arrhythmia; founder effects; clinical genetics; haplotype analysis; mutation age; founder mutation; clinical phenotype; life-threatening cardiac events; mutation-specific; KCNQ1 gene; modifier genes; sequence variants; risk stratification; risk factor; gender; pediatrik; Pediatrics;

    Abstract : Background: We aimed to increase the knowledge regarding the familial arrhythmogenic disorder Long QT Syndrome (LQTS) and its recessive variant Jervell and Lange-Nielsen Syndrome (JLNS) in Sweden, including prevalences and clinical phenotypes. A specific focus was directed towards two KCNQ1 mutations –p.Y111C and p. READ MORE

  6. 4. Evolutionary Dynamics of Mutation and Gene Transfer in Bacteria

    Author : Peter A Lind; Dan I Andersson; J. Arjan G. M. de Visser; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; fitness cost; bacterial evolution; gene amplification; mutational biases; GC content; synonymous substitutions; horizontal gene transfer; experimental evolution; Bacteriology; Bakteriologi; Microbiology; Mikrobiologi; Genetics; Genetik; Biology; Biologi; Mikrobiologi; Microbiology;

    Abstract : The study of bacterial evolution is fundamental for addressing current problems of antibiotic resistance and emerging infectious diseases and lays a solid foundation for successful and rational design in biotechnology and synthetic biology. The main aim of this thesis is to test evolutionary hypotheses, largely based on theoretical considerations and sequence analysis, by designing scenarios in a laboratory setting to obtain experimental data. READ MORE

  7. 5. Underlying genetic mechanisms of hereditary dystrophies in retina and cornea

    Author : Jonsson Frida; Irina Golovleva; Carlo Rivolta; Umeå universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Cornea; retina; gene; mutation detection; inherited diseases; genetik; Genetics;

    Abstract : Inherited retinal and corneal dystrophies represent a group of disorders with great genetic heterogeneity. Over 250 genes are associated with retinal diseases and 16 genes are causative of corneal dystrophies. READ MORE