Sökning: "mutation analysis"

Visar resultat 16 - 20 av 491 avhandlingar innehållade orden mutation analysis.

  1. 16. 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

  3. 17. Mutation Analysis and Hypercholesterolemia: Studies in FH patients and in healthy middle-aged men with high, low, or increasing cholesterol levels during a six-year follow-up (the CRISS study)

    Författare :Ulf Ekström; Avdelningen för klinisk kemi och farmakologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Klinisk kemi; Clinical chemistry; LDL receptor; Mutation; risk factor; FH; familial hypercholesterolemia;

    Sammanfattning : Our aims were to characterize familial hypercholesterolemia (FH) in a Swedish FH population and to further elucidate the clinical expression and treatment response in relation to genotype. Secondly, we wanted to identify gene variants, which may have impact on cholesterol levels in apparently healthy subjects. LÄS MER

  4. 18. Mutation and Diversity in Avian Sex Chromosomes

    Författare :Hannah Sundström; Hans Ellegren; David W. Burt; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; mutation rate; diversity; sex chromosomes; indels; male bias; selective sweep; effective population size; birds; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : Sex chromosomes are useful for the study of how factors such as mutation, selection, recombination and effective population size affect diversity and divergence.A comparison of gametologous introns in seven different bird species revealed a complete lack of diversity on the female-specific W chromosome. LÄS MER

  5. 19. Droplet microfluidics for single cell and nucleic acid analysis

    Författare :Prem Kumar Periyannan Rajeswari; Helene Andersson Svahn; Håkan Jönsson; Martin Dufva; KTH; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; Acoustophoresis; Biomarker detection; Cell behavior analysis; Cell factories; Droplet microfluidics; Droplet PCR; High throughput biology; Label-free enrichment; Single cell analysis; Bioteknologi; Biotechnology;

    Sammanfattning : Droplet microfluidics is an emerging technology for analysis of single cells and biomolecules at high throughput. The controlled encapsulation of particles along with the surrounding microenvironment in discrete droplets, which acts as miniaturized reaction vessels, allows millions of particles to be screened in parallel. LÄS MER

  7. 20. 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