Search for dissertations about: "Type 1: genetics"

Showing result 1 - 5 of 177 swedish dissertations containing the words Type 1: genetics.

  2. 1. Application of Genomic and Expression Arrays for Identification of new Cancer Genes

    Author : Helena Nord; Teresita Díaz de Ståhl; Jan Dumanski; Susan Pfeifer; Blomquist Erik; Segersten Ulrika; David Gisselsson Nord; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Array-CGH; Expression array; Copy number variation; Glioblastoma; Medulloblastoma; Bladder carcinoma; Oncogenes; Tumor suppressor genes; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Medical genetics; Medicinsk genetik; Tumour biology; Tumörbiologi; Genetics; Genetik; Medical Genetics; Medicinsk genetik;

    Abstract : Copy number variation (CNV) comprises a recently discovered kind of variation involving deletion and duplication of DNA segments of variable size, ranging from a few hundred basepairs to several million. By altering gene dosage levels or disrupting proximal or distant regulatory elements CNVs create human diversity. READ MORE

  4. 2. Mapping genetic diseases in northern Sweden

    Author : Elisabet Einarsdottir; Dan Holmberg; Gösta Holmgren; Ulf Gyllensten; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; isolated populations; linkage disequilibrium; linkage analysis; genome-wide scan; hereditary sensory and autonomic neuropathy; type 1 diabetes mellitus; type 2 diabetes mellitus; autoimmune thyroid disease; Genetik; Clinical genetics; Klinisk genetik; medicinsk genetik; Medical Genetics;

    Abstract : The population of northern Sweden has previously been shown to be well suited for the mapping of monogenic diseases. In this thesis we have tested the hypothesis that this population could also be used for efficient identification of risk genes for common diseases. READ MORE

  5. 3. Purification of general RNA polymerase II transcription factors from mouse for studies of proliferation-specific transcription

    Author : Irina Kotova; Lars-Gunnar Larsson; Umeå universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; Genetik; Genetics; Genetik;

    Abstract : Accurate initiation of transcription by RNA polymerase II depends on general transcription factors (GTFs), which include the TATA-binding protein (TBP) and the transcription factors (TF) IIB, IIF, IIE and IIH. In order to reconstitute mouse transcription in vitro, we cloned the genes encoding mouse TFIIB, and both subunits of TFIIE and TFIIF from a mouse cDNA library. READ MORE

  6. 4. Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome

    Author : Kiran K. Mantripragada; Jan P. Dumanski; Peter Lichter; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; array-CGH; neurofibromatoses; neurofibromatosis type 1; neurofibromatosis type 2; schwannomatosis; DiGeorge syndrome; 22q11 syndrome; chromosome 22; genomic microarrays; DNA copy number; Genetik; Clinical genetics; Klinisk genetik;

    Abstract : Microarray-based comparative genomic hybridization (array-CGH) has emerged as a versatile platform with a wide range of applications in molecular genetics. This thesis focuses on the development of array-CGH with a specific aim to approach disease-related questions through improved strategies in array construction and enhanced resolution of analysis. READ MORE

  7. 5. Canine inherited retinal degenerations: a model for visual impairment in humans

    Author : Suvi Mäkeläinen; Sveriges lantbruksuniversitet; Sveriges lantbruksuniversitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Abstract : Inherited retinal degenerations (IRDs) form a clinically and genetically heterogeneous group of diseases, leading to visual impairment or blindness in both humans and dogs. The prevalence of IRDs is estimated at 1 in 2,000 in humans. READ MORE