Sökning: "molecular genetic"

Visar resultat 1 - 5 av 1235 avhandlingar innehållade orden molecular genetic.

  1. 1. Class II transplantation antigens : molecular genetic studies

    Författare :Dan Larhammar; Uppsala universitet; []
    Nyckelord :MEDICINE; MEDICIN;

    Sammanfattning : .... LÄS MER

  3. 2. 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

  4. 3. Molecular genetic studies on cystinuria

    Författare :Lotta Harnevik; Peter Söderkvist; Catharina Larsson; Linköpings universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amino acid transport systems; Amino acids diamino; Mutation; Sulphydryl compounds; urine; Cystine; Carrier proteins; Cystinuria; DNA mutational analysis; Dog diseases; genetic; Membrane glycoproteins; Medical genetics; Medicinsk genetik;

    Sammanfattning : Cystinuria is defined as an inherited disorder characterized by increased urinary excretion of cystine and the dibasic amino acids arginine, lysine and ornithine. The only clinical manifestation of cystinuria is renal cystine stone formation due to the low solubility of cystine in the urine. LÄS MER

  5. 4. Genetic and Epigenetic Profiling of Mantle Cell Lymphoma and Chronic Lymphocytic Leukemia

    Författare :Anna Margrét Halldórsdóttir; Richard Rosenquist; Reiner Siebert; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mantle cell lymphoma; chronic lymphocytic leukemia; copy number aberration; proliferation signature; TP53; SNP array; methylation array; Haematology; Hematologi; Clinical genetics; Klinisk genetik; Molecular biology; Molekylärbiologi; Tumour biology; Tumörbiologi; Medical Genetics; Medicinsk genetik; Oncology; Onkologi; Molekylär medicin; Molecular Medicine; Pathology; Patologi;

    Sammanfattning : Mantle cell lymphoma (MCL) and chronic lymphocytic leukemia (CLL) both belong to the group of mature B-cell malignancies. However, MCL is typically clinically aggressive while the clinical course of CLL varies. LÄS MER

  7. 5. Imaging the molecular pathways of neurodegeneration : New pathologies of SCA7

    Författare :Frida Niss; Anna-Lena Ström; Einar Hallberg; Georg Auberger; Stockholms universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neurodegeneration; SCA7; Polyglutamine diseases; RNA binding proteins; Aggregation; Stress granules; Chromatin organization; Quantitative image analysis; Nuclear envelope; Nuclear pore complex; Nucleocytoplasmic transport; neurokemi med molekylär neurobiologi; Neurochemistry with Molecular Neurobiology;

    Sammanfattning : Spinocerebellar Ataxia type 7 (SCA7) is a genetic neurodegenerative disease with lethal outcome that affects the cerebellum and retina of patients. This thesis focuses on characterising molecular pathological pathways that cause toxicity and cell death in SCA7. LÄS MER