Sökning: "Germ-Line Mutation"

Visar resultat 1 - 5 av 14 avhandlingar innehållade orden Germ-Line Mutation.

  1. 1. Mutation and Diversity in Avian Sex Chromosomes

    Författare :Hannah Sundström; Hans Ellegren; David W. Burt; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; mutation rate; diversity; sex chromosomes; indels; male bias; selective sweep; effective population size; birds; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : Sex chromosomes are useful for the study of how factors such as mutation, selection, recombination and effective population size affect diversity and divergence.A comparison of gametologous introns in seven different bird species revealed a complete lack of diversity on the female-specific W chromosome. LÄS MER

  3. 2. 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

  4. 3. 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

  5. 4. Transcription, splicing and genetic structure within the human endogenous retroviral HERV-H family

    Författare :Mats Lindeskog; Institutionen för naturgeografi och ekosystemvetenskap; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Microbiology; immunosuppressive envelope protein; RNA splicing; Human endogenous retrovirus; transcription; bacteriology; virology; mycology; Mikrobiologi; bakteriologi; virologi; mykologi;

    Sammanfattning : Human endogenous retroviruses (HERVs) are remains of ancient retroviral infections of the germ line and constitute as much as 3 % of the human genome. HERVs are genetic elements that potentially may provide important biological functions by several different mechanisms. LÄS MER

  7. 5. Anaplastic Lymphoma Kinase mutations and downstream signalling

    Författare :Christina Schönherr; Ruth H Palmer; Aristidis Moustakas; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Anaplastic Lymphoma Kinase; oncogene; RTK; neuroblastoma; crizotinib; NVP-TAE684; gain-of-function; MYCN; transcription factor; small GTPase; Rap1; C3G; PC12 cells; neurite outgrowth; molecular cell biology; molekylär cellbiologi;

    Sammanfattning : The oncogene Anaplastic Lymphoma Kinase (ALK) is a Receptor Tyrosine Kinase (RTK) and was initially discovered as the fusion protein NPM (nucleophosmin)-ALK in a subset of Anaplastic Large Cell Lymphomas (ALCL). Since then more fusion proteins have been identified in a variety of cancers. LÄS MER