Sökning: "mutation screening"

Visar resultat 6 - 10 av 145 avhandlingar innehållade orden mutation screening.

  1. 6. Phenotypes and genotypes in families with hereditary tapetoretinal degenerations

    Författare :Vesna Ponjavic; Lund Oftalmologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; peripherin.; rhodopsin; cone-rod dystrophy; retinitis pigmentosa; choroideremia; central areolar choroidal dystrophy; mutation screening; full-field electroretinography; Phenotype; genotype; Ophtalmology; Oftalmologi;

    Sammanfattning : The purpose of the study was to characterise the phenotype with emphasis on electroretinography in four different types of hereditary retinal degeneration and to correlate it to a genotype when possible. Two methods were used: full-field electroretinography for objective assessment of retinal function and mutation screening of blood samples for detection of gene alterations. LÄS MER

  3. 7. Genetic and Clinical Investigation of Noonan Spectrum Disorders

    Författare :Sara Ekvall; Marie-Louise Bondeson; Göran Andersson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RASopathies; Noonan syndrome; neurofibromatosis type 1; neurofibromatosis-Noonan syndrome; RAS-MAPK pathway; mutation; Medical Science; Medicinsk vetenskap;

    Sammanfattning : Noonan spectrum disorders belong to the RASopathies, a group of clinically related developmental disorders caused by dysregulation of the RAS-MAPK pathway. This thesis describes genetic and clinical investigations of six families with Noonan spectrum disorders. LÄS MER

  4. 8. Human glycogen synthase genes. Role in insulin resistance and hypoglycaemia

    Författare :Marju Orho-Melander; diabetes och endokrinologi Genomik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mutation; GYS2; GYS1; glycogen synthase; glycogen; insulin resistance; hypoglycaemia; liver glycogen synthase deficiency; glycogen storage disease type 0; Type 2 diabetes; metabolic syndrome; expression; chromosome 19; 19q13.3; Endocrinology; secreting systems; diabetology; Endokrinologi; sekretion; diabetologi;

    Sammanfattning : Effective insulin-stimulated storage of excess glucose after a meal, and its rapid mobilisation in the fasting state provide basis of glucose homeostasis. Glycogen is the macromolecular storage form of glucose and glycogen synthase (GS) is the rate-limiting enzyme in glycogen synthesis. Skeletal muscle and liver are the major depots of glycogen. LÄS MER

  5. 9. Clinical implementation of novel diagnostic biomarkers for epithelial ovarian cancer - Can we improve diagnosis?

    Författare :Maria Lycke; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Ovarian neoplasms; EOC; Diagnosis; protein biomarkers; HE4; CA125; Algorithms; RMI; ROMA; NGS; rare mutations; liquid biopsies; screening;

    Sammanfattning : Background: Epithelial ovarian cancer (EOC) is the most lethal gynecologic cancer. The 5-year survival is about 30%, a consequence of failure to establish early diagnosis due to unspecific symptoms. LÄS MER

  7. 10. Resistance to neuraminidase inhibitors in influenza A virus isolated from mallards

    Författare :Goran Orozovic; Björn Olsen; Johan Lennerstrand; Sigvard Olofsson; Linnéuniversitetet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; influenza; mallards; neuraminidase; PCR; sequencing; mutation; oseltamivir; zanamivir; resistance; NAI; antivirals; pandemic; Virology; Virologi; Molecular biology; Molekylärbiologi; Bioinformatics; Bioinformatik; Zoonotisk ekologi; Zoonotic Ecology; Virology; Virologi; Biokemi; Biochemistry;

    Sammanfattning : Influenza A virus belongs to the Orothomyxoviridae family of viruses and is one of the most common pathogens that cause infections of the respiratory tract. The aim of this thesis was to investigate if neuraminidase inhibitor (NAI) Tamiflu® (oseltamivir, OC) and Relenza® (zanamivir, ZA) - related resistance mutations exist in the neuraminidase (NA) gene of viruses collected from wild birds. LÄS MER