Sökning: "repeats"

Visar resultat 16 - 20 av 212 avhandlingar innehållade ordet repeats.

1. 16. Hereditary Nonpolyposis Colorectal Cancer - Molecular Genetics and Biology of Associated Tumors

   Författare :Maria Planck; Bröstcancer-genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; endometrial cancer; rectal cancer; colon cancer; mismatch repair protein expression; coding repeats; microsatellite instability; MSH6; MSH2; Hereditary nonpolyposis colorectal cancer; MLH1; small bowel cancer; Cytology; oncology; cancerology; Cytologi; onkologi; cancer;

   Sammanfattning : This thesis focuses on one of the most common types of hereditary cancer, hereditary nonpolyposis colorectal cancer (HNPCC). This syndrome is characterized by an autosomal dominant inheritance, an increased risk for several types of cancer (especially cancer of the colorectum, small bowel, endometrium, ovary and urinary tract), early age at diagnosis, and frequent development of multiple primary malignancies. LÄS MER

3. 17. Mitochondrial DNA : analysis of the control region in forensic and population genetic studies

   Författare :Peter Savolainen; KTH; []
   Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; mitochondrial DNA; control region; tandem repeats; D-loop; homoplasmy; hair; forensic; microsatellites; evolution; DNA sequencing; PCR; domestic dog; wolf; Bioengineering; Bioteknik;

   Sammanfattning : .... LÄS MER

4. 18. Studies of polyglutamine repeats and their biology in relation to disease

   Författare :Cecilia Zander; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :trinucleotide repeat; polyglutamine; autosomal dominant spinocerebellar ataxia; repeat expansion detection; spastic paraplegia; autophagy; inclusions;

   Sammanfattning : Polyglutamine repeat expansions of the CAG/CTG type frequently lead to disease characterized by progressive neuronal dysfunction. These diseases typically begins in mid-life and result in severe neurodegeneration. To a certain extent they present with similar features and probably share a common mechanism of pathogenesis. LÄS MER

5. 19. Identification and investigations of leucine-rich repeats and immunoglobulin-like domains protein 2 (LRIG2)

   Författare :Camilla Holmlund; Håkan Hedman; Roger Henriksson; Monica Nistér; Umeå universitet; []
   Nyckelord :LRIG; PDGF; oligodendroglioma; MEDICINE; MEDICIN; onkologi; Oncology;

   Sammanfattning : Receptor tyrosine kinases (RTKs) constitute a family of proteins controlling cell growth and proliferation and whose activities are tightly controlled in normal cells. LRIG1 is a negative regulator of RTK signaling and is a proposed tumor suppressor. The aim of this thesis was to identify and study possible paralogs of LRIG1. LÄS MER

7. 20. Characterization of Genetic Abnormalities at Disease Progression of Chronic Myeloid Leukemia

   Författare :Aikaterini Barbouti; Avdelningen för klinisk genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; fluorescent in situ hybridization; low-copy repeats; isochromosome 17q; MSI2 HOXA9; ETV6 ABL1; BCR ABL1; chronic myeloid leukemia; blast crisis; molecular genetics; Clinical genetics; Klinisk genetik;

   Sammanfattning : Chronic myeloid leukemia (CML) is a myeloproliferative disorder associated with the translocation t(9;22)(q34;q11) and progresses from a relatively indolent chronic phase (CP) to an accelerated phase (AP) and finally to the more aggressive blast crisis (BC). The general aim of this thesis was to identify and characterize genetic abnormalities occurring at disease progression of CML using molecular cytogenetic, molecular genetic, and bioinformatic analyses. LÄS MER