Sökning: "genetic research"

Visar resultat 16 - 20 av 977 avhandlingar innehållade orden genetic research.

  1. 16. Translational Research of Mendelian Disorders : Applications of Cutting-Edge Sequencing Techniques and Molecular Tools

    Författare :Sanna Gudmundsson; Marie-Louise Bondeson; Maria Wilbe; Niklas Dahl; Joris Veltman; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; translational research; Mendelian disorders; intellectual disability; sequencing technologies;

    Sammanfattning : Up to 8% of all live-born children are affected with a congenital disorder. Some are Mendelian disorders of known etiology, but many are of undetermined genetic cause and mechanism, limiting diagnosis and treatment. LÄS MER

  3. 17. Genetic studies of zebrafish muscles : clues to protection in muscle disease

    Författare :Nils Dennhag; Fatima Pedrosa Domellöf; Jonas von Hofsten; Tatjana Haitina; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; zebrafish; muscle; extraocular muscles; intermediate filaments; bioinformatics; genetics; CRISPR Cas9; oftalmiatrik; ophthalmology; cellforskning; cell research;

    Sammanfattning : Muscular dystrophies (MDs) are caused by dysregulation of over 40 proteins but commonly share features of muscle weakness, myofiber death and regeneration, loss of ambulation and premature death. A MD involves a broken link anywhere in the connection from extracellular matrix through the sarcolemma to the sarcomere. LÄS MER

  4. 18. Hearing impairment and deafness : genetic and environmental factors - interactions - consequences : a clinical audiological approach

    Författare :Per-Inge Carlsson; Erik Borg; Berth Danermark; Claes Möller; Örebro universitet; []
    Nyckelord :SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; Disability studies; hereditary hearing impairment; deafness; noise induced hearing loss; Deaf community; connexin mutations; oxidative stress genes; family history of hearing impairment; audiological rehabilitation; audiological medicine; Handikappforskning; Disability research; Handikappsforskning; SOCIAL SCIENCES; SAMHÄLLSVETENSKAP; Social sciences; Socialvetenskap; Medicinsk handikappvetenskap; Medical Disability Research;

    Sammanfattning : OBJECTIVES - Hearing impairment (HI) can be due to genetic or environmental factors, e.g. noise. More than 50% of HI cases are thougt to be hereditary. LÄS MER

  5. 19. Genetic Determinants of Obesity in Relation to Diet, Weight Gain and Mortality

    Författare :Gull Rukh; Diabetes - kardiovaskulär sjukdom; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; genetic variants; copy number variants; genetic risk score; BMI; gene-diet interactions; annual weight change; substantial weight gain; sugar-sweetened beverages; mortality; Mendelian randomization;

    Sammanfattning : Obesity is one of the major health concerns that has reached epidemic proportions globally. It is generally believed to be a result of interactions between genetic and environmental factors. LÄS MER

  7. 20. Genetic diversity and differentiation in natural and managed stands of Norway spruce (Picea abies)

    Författare :Helena Eklöf; Pär K. Ingvarsson; Xiao-Ru Wang; Carolina Bernhardsson; Katri Kärkkäinen; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Norway spruce; Picea abies; forestry; genetic diversity; seed orchards; forest management; WGS; GBS; sequencing; PoolSeq; capture probes; genetic differentiation;

    Sammanfattning : Being one of Sweden’s most important tree species, both as a keystone species and for the forest industry, it is important that we keep our stands of Norway spruce (Picea abies (L.) Karst.) as healthy as possible. LÄS MER