Sökning: "deleterious mutations"

Visar resultat 16 - 20 av 41 avhandlingar innehållade orden deleterious mutations.

  1. 16. Identification and characterization of candidate genes for neuroblastoma development

    Författare :Cecilia Krona; Göteborgs universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; cancer; tumor; child; embryonal; neural crest; neuroblastoma; chromosome 1; 1p36; mutation; expression; tumor suppressor gene; UBE4B; KIF1B; PGD; CORT; DFFA; PEX14; ICAT; CASP9; ENO1; MBP1; APITD1; PHOX2B;

    Sammanfattning : Neuroblastoma (NB) is the most common tumor during infancy. It arises from undifferentiated cells in the sympathetic nervous system and is characterized by both clinical and genetic heterogeneity. One of the features of NBs with unfavorable outcome is loss on distal chromosome 1p. LÄS MER

  3. 17. Mutation Analysis and Hypercholesterolemia: Studies in FH patients and in healthy middle-aged men with high, low, or increasing cholesterol levels during a six-year follow-up (the CRISS study)

    Författare :Ulf Ekström; Avdelningen för klinisk kemi och farmakologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Klinisk kemi; Clinical chemistry; LDL receptor; Mutation; risk factor; FH; familial hypercholesterolemia;

    Sammanfattning : Our aims were to characterize familial hypercholesterolemia (FH) in a Swedish FH population and to further elucidate the clinical expression and treatment response in relation to genotype. Secondly, we wanted to identify gene variants, which may have impact on cholesterol levels in apparently healthy subjects. LÄS MER

  4. 18. Gene regulatory evolution in flycatchers: statistical approaches for the analysis of allele-specific expression

    Författare :Mi Wang; Hans Ellegren; Christopher Wheat; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; ASE; gene expression evolution; bayesian; RPASE; flycatcher.; Biology with specialization in Evolutionary Genetics; Biologi med inriktning mot evolutionär genetik;

    Sammanfattning : Understanding the molecular mechanisms underlying evolutionary changes in gene expression is a major research topic in biology. While a powerful approach to study this is the analysis of allele-specific expression (ASE), most of previously published methods can only be applied to lab organisms. LÄS MER

  5. 19. The Effects of Mutation and Selection on the Rate and Pattern of Molecular Evolution in Birds

    Författare :Sofia Berlin; Hans Ellegren; Adam Eyre-Walker; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; substitution rate; diversity; selection; male mutation bias; birds; Genetik; Genetics; Genetik;

    Sammanfattning : By comparing sequence diversity and divergence on sex chromosomes one can study how the rate of evolution in affected by mutation and/or selection. The rate of mutation in male biased, meaning that relatively more mutations are created in the male germ line than in the female. LÄS MER

  7. 20. Characterizing the spectrum of somatic alterations in canine and human cancers

    Författare :Sharadha Sakthikumar; Kerstin Lindblad-Toh; Richard Rosenquist Brandell; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; dog; osteosarcoma; hemangiosarcoma; glioblastoma; non-coding; whole-exome; whole-genome; sequencing; bioinformatics; comparative genetics.;

    Sammanfattning : Cancers arise as a result of deleterious somatic alterations accumulating in the genome during the process of cell division. These alterations arise either via exposure to mutagens or due to errors occurring during DNA replication. LÄS MER