Sökning: "mosaic mutation"

Hittade 5 avhandlingar innehållade orden mosaic mutation.

1. 1. Mosaic loss of chromosome Y : methods for detection and consequences for affected leukocytes and men

   Författare :Marcus Danielsson; Lars A. Forsberg; Ståhl Patrik; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mosaic loss of chromosome Y; mLOY; somatic mosaicism; Medicinsk genetik; Medical Genetics;

   Sammanfattning : It has been known for centuries that men live shorter lives than women, but until recently, the biological mechanisms driving this sex bias has been poorly understood. Mosaic loss of chromosome Y (mLOY) refers to chromosome Y aneuploidy, a male specific and the most common somatic mutation in human blood cells. LÄS MER

3. 2. Hereditary Colorectal Cancer; Identification, Characterization and Classification of Mutations

   Författare :Anna Rohlin; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary Colorectal cancer; FAP; AFAP; mutations; mosaic mutation; exome sequencing; massively parallel sequencing; next generation sequencing; atypical polyposis; APC; POLE; GREM1; PPAP;

   Sammanfattning : Hereditary factors are thought to play are role in 20-30% of all colorectal cancers Around 6% are found as high penetrant disease-causing mutations in genes correlated to hereditary polyposis or hereditary non-polyposis syndromes. The aim of this thesis was to identify new causative genes and variants and also mutation mechanisms in families presenting a polyposis, atypical polyposis or nonpolyposis CRC phenotype. LÄS MER

4. 3. The role of hematopoietic chromosome Y loss in health and disease

   Författare :Jonas Mattisson; Lars A. Forsberg; Jonatan Halvardson; Adam Ameur; Andrea Ganna; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; loss of chromosome Y; LOY; mosaic loss of chromosome Y; mLOY;

   Sammanfattning : Mosaic loss of chromosome Y (mLOY) is the most common somatic mutation, and affected men have increased risk for all major causes of death, including cardiovascular diseases and cancer. As a male specific mutation, it helps explain why men live shorter lives than women. LÄS MER

5. 4. Clinical and molecular genetic characterization of congenital malformations

   Författare :Johanna Winberg; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Congenital malformations are important causes of perinatal mortality and morbidity, and around 4% of children are diagnosed with a malformation during their first year of life. Despite improved surgical treatment, several malformations are associated with lifelong sequelae requiring specialized health care. LÄS MER

7. 5. Lymphoid development and function in MHC class I deficient mice

   Författare :Sofia Freland; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :MHC class I; T cell selection; cytotoxic T lymphocyte; antigen presentation; MHC class I deficient mice; NK cell; tumor growth;

   Sammanfattning : MHC class I molecules present short peptide fragments, derived from proteins synthesized in the cytosol, to specific CTL. The MHC class I molecule is a heterotrimer encompassed of a polymorphic transmembrane glycoprotein (heavy chain), ß2-microglobulin (ß2m), and a peptide. LÄS MER