Sökning: "Medical and Health Sciences Basic Medicine Medical Genetics"

Visar resultat 26 - 30 av 371 avhandlingar innehållade orden Medical and Health Sciences Basic Medicine Medical Genetics.

  1. 26. Molecular Genetic Analysis in B-cell Lymphomas : A Focus on the p53 Pathway and p16INK4a

    Författare :Norafiza Zainuddin; Gunilla Enblad; Richard Rosenquist; Mattias Berglund; Kirsten Gronbaek; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Diffuse large B-cell lymphoma; chronic lymphocytic leukemia; TP53 mutation; MDM2 SNP309; codon 72 polymorphism; p16INK4a methylation; Clinical genetics; Klinisk genetik; Molecular biology; Molekylärbiologi; Haematology; Hematologi; Tumour biology; Tumörbiologi; Clinical Genetics; Klinisk genetik; Medical Genetics; Medicinsk genetik; Molekylär genetik; Molecular Genetics; Oncology; Onkologi; Pathology; Patologi;

    Sammanfattning : The presence of TP53 mutations has been associated with inferior outcome in diffuse large B-cell lymphoma (DLBCL) and chronic lymphocytic leukemia (CLL). In DLBCL, the impact of the TP53 codon 72 polymorphism and MDM2 SNP309 has not been clearly elucidated, whereas MDM2 SNP309 was suggested as a poor-prognostic marker in CLL. LÄS MER

  3. 27. Canine inherited retinal degenerations: a model for visual impairment in humans

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

    Sammanfattning : 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. LÄS MER

  4. 28. Intestinal Gene Expression Profiling and Fatty Acid Responses to a High-fat Diet

    Författare :Jonathan Cedernaes; Helgi B Schiöth; Robert Fredriksson; Anders Jacobsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Adhesion GPCR; delta-5 desaturase; delta-6 desaturase; desaturase index; Diet-induced obesity; estimated desaturase activity; fatty acid composition; gas chromatography; gastrointestinal tract; G-protein coupled receptor; high-fat diet; intestine; linoleic acid; liver; mRNA expression; palmitoleic acid; plasma; phospholipids; proximodistal; RT-qPCR; solute carrier; SCD-1; SCD-16; SCD-18; stearoyl-CoA desaturase; subcutaneous adipose tissue; subsection; triacylglycerols.; Medical Genetics; Medicinsk genetik; Nutrition; Nutrition; Näringslära; Nutrition;

    Sammanfattning : The gastrointestinal tract (GIT) regulates nutrient uptake, secretes hormones and has a crucial gut flora and enteric nervous system. Of relevance for these functions are the G protein-coupled receptors (GPCRs) and the solute carriers (SLCs). LÄS MER

  5. 29. Genetic mechanisms regulating proliferation and cell specification in the Drosophila embryonic CNS

    Författare :Shahrzad Bahrampour; Stefan Thor; Jan-Ingvar Jönsson; Simon Sprecher; Linköpings universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : The central nervous system (CNS) consists of an enormous number of cells, and large cellular variance, integrated into an elaborate network. The CNS is the most complex animal organ, and therefore its establishment must be controlled by many different genetic programs. LÄS MER

  7. 30. Evolutionary and Pharmacological Studies of NPY and QRFP Receptors

    Författare :Bo Xu; Dan Larhammar; Samuel Svensson; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Neuropeptide Y; genome duplication; Evolution; vertebrate; Pharmacology; Modelling; Kinetics; Bioinformatik; Bioinformatics; Biology with specialization in Evolutionary Genetics; Biologi med inriktning mot evolutionär genetik; Biologi med inriktning mot evolutionär funktionsgenomik; Biology with specialization in Evolutionary Functional Genomics; Farmaceutisk farmakologi; Pharmaceutical Pharmacology;

    Sammanfattning : The neuropeptide Y (NPY) system consists of 3-4 peptides and 4-7 receptors in vertebrates. It has powerful effects on appetite regulation and is involved in many other biological processes including blood pressure regulation, bone formation and anxiety. LÄS MER