Sökning: "Point mutations"

Visar resultat 21 - 25 av 214 avhandlingar innehållade orden Point mutations.

1. 21. Topology and membrane rearrangements of the hepatitis C virus protein NS4B

   Författare :Marika Lundin; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Hepatitis C virus; NS4B; NS5A; topology; posttranslational translocation membrane rearrangements; endoplasmic reticulum; polyprotein; membrane protein; membrane associated foci; oligomerization; viral replication; replicon; replication complex; mutations; immunoprecipitation;

   Sammanfattning : Hepatitis C virus (HCV) is a major cause of chronic liver disease and viral hepatitis around the world. Approximately 180 million people or 3% of the world's population are infected with the virus. LÄS MER

3. 22. Molecular studies of the hepatitis C virus : the role of IRES activity for therapy response, and the impact of the non-structural protein

   Författare :Hannah Kim Lindström; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Hepatitis C virus; IRES; viral translation; dual luciferase assay; therapy response; NS4B; topology; membrane rearrangements; membrane associated foci; Immunofluorescence; oligomerization; viral replication; bi-cistronic subgenomic replicon; replicon complex; mutations;

   Sammanfattning : Chronic hepatitis C can lead to life threatening conditions like cirrhosis, liver failure and hepatocellular carcinoma. There are an estimated 170 million chronic carriers of the hepatitis C virus (HCV) world wide, making it a serious global health problem. LÄS MER

4. 23. Clinical and genetic investigation of hypochondroplasia and dyschondrosteosis

   Författare :Giedre Grigelioniene; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Linear body growth is a multifactorial trait influenced by many environmental and intrinsic factors. Among the intrinsic determinants of body height, genetic and endocrine factors are considered to be the most important. LÄS MER

5. 24. Genomic characterization of pediatric acute lymphoblastic leukemia by deep sequencing

   Författare :Carl Mårten Lindqvist; Ann-Christine Syvänen; Gabor Marth; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

   Sammanfattning : Acute Lymphoblastic Leukemia (ALL) is the most common cancer in children, with close to 200 cases per year in the Nordic countries. Despite recent advances in modern chemotherapies, 20% of the ALL patients experience a relapse. LÄS MER

7. 25. Exploring next-generation sequencing in chronic lymphocytic leukemia

   Författare :Viktor Ljungström; Tobias Sjöblom; Richard Rosenquist; Larry Mansouri; Mats Nilsson; Catherine J. Wu; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; CLL; next-generation sequencing; clonal evolution; stereotypy; RPS15; NFKBIE; Medical Genetics; Medicinsk genetik;

   Sammanfattning : Next-generation sequencing (NGS) techniques have led to major breakthroughs in the characterization of the chronic lymphocytic leukemia (CLL) genome with discovery of recurrent mutations of potential prognostic and/or predictive relevance. However, before NGS can be introduced into clinical practice, the precision of the techniques needs to be studied in better detail. LÄS MER