Sökning: "loss-of-function"

Visar resultat 1 - 5 av 137 avhandlingar innehållade ordet loss-of-function.

  1. 1. Rett syndrome, motor development, mobility and orthostatic reactions : loss of function, difficulties and possibilities

    Författare :Gunilla Larsson; Britta Lindström; Ingegerd Witt Engerström; Åsa Bartonek; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Rett syndrome; child development; developmental disabilities; gait; impairment; mobility; motivation; motor skills disorders; orthostatic intolerance; physiotherapy; recovery of function.;

    Sammanfattning : Rett syndrome (RTT) is a rare, severe neurodevelopmental disorder, which partly develops in a predictable way, and influences many bodily functions. Regression, i.e. loss of earlier achieved abilities, is one of the clinical criteria for RTT. LÄS MER

  3. 2. Population Genetics of Human Genomic Elements

    Författare :Thijessen Naidoo; Mattias Jakobsson; Guillaume Achaz; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; population genetics; human genome; functional elements; natural selection; pseudogenes; loss-of-function; gene regulation; Y chromosome; Biology with Specialisation in Human Evolution and Genetics; Biologi med inriktning mot människans evolution och genetik;

    Sammanfattning : The genomes of living organisms are composed of a multitude of functional units, which interact with each other and their environment in a highly regulated fashion, to facilitate the expression of an enduring (and evolving) phenotype. Several approaches have emerged in the effort to identify these functional units and explore their activities. LÄS MER

  4. 3. Genomic studies of mating system variation in flowering plants

    Författare :Juanita Gutiérrez-Valencia; Tanja Slotte; Magne Friberg; Mario Vallejo-Marín; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; mating system evolution; cross- and self-fertilization; distyly; supergenes; complex phenotypic polymorphism; convergent evolution; homostyly; loss-of-function mutation; intrasexual competition; pollen; purifying selection; Linum; Arabis alpina; Ecology and Evolution; ekologi och evolution;

    Sammanfattning : The striking diversity of reproductive strategies that flowering plants exhibit remains one of the most intriguing conundrums in evolutionary biology. Pollination-related traits and mating system strategies have a major impact on the processes shaping plant evolution through their effects on genetic diversity and selection. LÄS MER

  5. 4. PARN - A Tale of A de-Tailor : Functional importance of poly(A) degradation in developmental and telomere biology disorders

    Författare :Sethu Madhava Rao Gunja; Anders Virtanen; Jonas von Hofsten; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; PARN; Telomere biology disorders; snoRNAs; scaRNAs; TR TERC; Zebrafish; Biology with specialization in Molecular Cell Biology; Biologi med inriktning mot molekylär cellbiologi; Molekylär genetik; Molecular Genetics; Molekylär cellbiologi; Molecular Cellbiology;

    Sammanfattning : Poly(A)-specific ribonuclease (PARN) is a eukaryotic 3’-5’exoribonuclease that removes poly(A) tails of many coding and non-coding RNAs. In this thesis, we have studied the physiological role of PARN. LÄS MER

  7. 5. Glycosaminoglycan Biosynthesis and Function in Zebrafish Development : Sugars Shaping Skeletons

    Författare :Judith Habicher; Johan Ledin; Per Erik Ahlberg; Marion Kusche-Gullberg; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES;

    Sammanfattning : Heparan sulfate (HS) and chondroitin/dermatan sulfate (CS/DS) proteoglycans are glycosylated proteins with important roles in animal development and homeostasis. HS and CS/DS are long, linear glycosaminoglycan (GAG) polysaccharides and attached to a core protein they form proteoglycans. LÄS MER