Search for dissertations about: "Monogenic disorder"

Showing result 1 - 5 of 9 swedish dissertations containing the words Monogenic disorder.

  2. 1. The use of monogenic disease to study basal and disease associated mechanisms with focus on NGF dependent pain insensitivity and ISCU myopathy

    Author : Elin Larsson; Monica Holmberg; Geoff Woods; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; monogenic; disease; NGF; receptor; pain insensitivity; ISCU; myopathy; splicing; molecular medicine medical sciences ; molekylär medicin medicinska vetenskaper ;

    Abstract : Monogenic diseases make excellent models for the study of gene functions and basal cellular mechanisms in humans. The aim of this thesis was to elucidate how genetic mutations affect the basal cellular mechanisms in the monogenic diseases Nerve growth factor (NGF) dependent pain insensitivity and Iron-Sulphur cluster assembly protein U (ISCU) myopathy. READ MORE

  4. 2. Genetic and Molecular Studies of Two Hereditary Skin Disorders

    Author : Johanna Dahlqvist; Niklas Dahl; Anders Vahlquist; Juha Kere; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Monogenic disorder; autosomal recessive congenital ichthyosis; KLICK syndrome; Ichthyin; POMP; proteasome; epidermal differentiation; Clinical genetics; Klinisk genetik; Clinical Genetics; Klinisk genetik;

    Abstract : Monogenic disorders, i.e., disorders caused by mutations in a single gene, are rare and clinically heterogeneous conditions. Identification of the genetic cause of monogenic traits can bring new insights into molecular pathways and disease mechanisms. READ MORE

  5. 3. Molecular genetic studies of colorectal cancer

    Author : Xiaolei Zhou; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Colorectal cancer CRC ; high-penetrance alleles; low-penetrance alleles; autism spectrum disorder ASD ; MSI; microarray; metastasis; hMLH3; APC; MYH; TJP3.;

    Abstract : Colorectal cancer (CRC) is one of the leading causes of morbidity and mortality due to cancer in the Western countries. Epidemiological studies have shown that at least 20-30% of CRCs have a potentially identifiable genetic cause. READ MORE

  6. 4. Genetic causes and underlying disease mechanisms in early-onset osteoporosis

    Author : Anders Kämpe; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Adult-onset osteoporosis is a disorder that affects a significant proportion of the elderly population worldwide and entails a substantial disease burden for the affected individuals. Childhood-onset osteoporosis is a rare condition often associating with a severe bone disease and recurrent fractures already in early childhood. READ MORE

  7. 5. Biomarker Discovery in Tissue-specific Autoimmune Disease

    Author : Nils Landegren; Olle Kämpe; Björn Dahlbäck; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Abstract : Autoimmune diseases encompass a diverse group of disorders that collectively affect 5% of the population. Despite large clinical variability, autoimmune disorders share a common etiology in that they all develop from immune responses against self. READ MORE