Sökning: "mutation accumulation"

Visar resultat 1 - 5 av 113 avhandlingar innehållade orden mutation accumulation.

  1. 1. Mutations and Mutation Rate in the Development of Fluoroquinolone Resistance

    Författare :Patricia Komp Lindgren; Diarmaid Hughes; Fernando Baquero; Uppsala universitet; []
    Nyckelord :Microbiology; Mutation rate; Fluoroquinolone; Resistance; Biological fitness; Urinary tract infection; Escherichia coli; MPC; Mikrobiologi;

    Sammanfattning : The emergence of multidrug resistant bacteria world wide is a serious problem, and very few new drugs are under development. The selection of resistant bacteria is affected by factors such as mutation rate, biological fitness cost and the rate of fitness compensation. LÄS MER

  3. 2. Wnt/β-Catenin Signalling in Parathyroid Tumours

    Författare :Peyman Björklund; Gunnar Westin; Göran Åkerström; Tommy Andersson; Uppsala universitet; []
    Nyckelord :Surgery; Hyperparathyroidism; β-catenin; Mutation; Human parathyroid cell line; LRP5; Alternative splicing; Kirurgi;

    Sammanfattning : Primary hyperparathyroidism (pHPT) due to parathyroid tumours with hypersecretion of parathyroid hormone and hypercalcaemia is a common disease with incompletely understood etiology affecting more than 1 % of the population, primarily postmenopausal women. In secondary hyperparathyroidism (sHPT), parathyroid tumours develop in response to calcium and vitamin D deficiency generally in patients with uraemia. LÄS MER

  4. 3. New Insights in Genetic and Epigenetic Mechanisms Involved in Parathyroid Tumorigenesis

    Författare :Lee Starker; Peyman Björklund; Barbra Miller; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Parathyroid; yumorigenesis; mutation; exome sequencing;

    Sammanfattning : Primary hyperparathyroidism (pHPT) is a pathology associated with one or multiple hyperfunctioning parathyroid glands.  The disease prevalence occurs in roughly 1-2% of the population primarily post-menopausal women.  The molecular pathology of the disease is poorly understood. LÄS MER

  5. 4. Full circle : Rise and fate of genetic variation in Marasmius oreades fairy rings

    Författare :Markus Hiltunen; Hanna Johannesson; Martin Ryberg; Jason Stajich; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; mushroom; fairy ring; Marasmius; mutation; fungi; genomics; Biology with specialization in Systematics; Biologi med inriktning mot systematik;

    Sammanfattning : Genetic variation is a prerequisite for evolution. The degree of variability within a species is governed by forces including mutation, recombination and selection. LÄS MER

  7. 5. Analysis of the Gene and Protein Causing Best Macular Dystrophy

    Författare :Benjamin Bakall; Catharina Larsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; VMD2; bestrophin; macular degenration; mutation analysis; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Sammanfattning : Best macular dystrophy (BMD) is an autosomal dominant inherited eye disease with a juvenile onset. Accumulation of the pigment lipofuscin in the retinal pigment epithelium can later cause macular degeneration and loss of vision. LÄS MER