Sökning: "splice mutations"

Visar resultat 16 - 20 av 60 avhandlingar innehållade orden splice mutations.

1. 16. Molecular complexities of patched signaling in cancer development

   Författare :Fahimeh Rahnama; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Basal Cell Carcinoma; Patched; Sonic Hedgehog; Desert Hedgehog; Splice variants; Skin;

   Sammanfattning : Basal Cell Cancer (BCC) is the most common cancer in the Western world. Although BCCs hardly ever metastasize, invasive growth may cause considerable local tissue destruction. BCCs mainly occur as sporadic tumors but can also be found in a hereditary form in the Nevoid Basal Cell Carcinoma Syndrome (NBCCS). LÄS MER

3. 17. Familial hypercholesterolemia in Sweden : genetic and metabolic studies

   Författare :Suzanne Lind; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Familial hypercholesterolemia; LDL receptor gene mutations; LDL cholesterol; bile acids; autosomal recessive hypercholesterolemia; growth hormone; LDL clearance.;

   Sammanfattning : Familial hypercholesterolemia (FH) is inherited as an autosomal codominant disease, usually caused by mutations in the LDL receptor (LDLR) gene. Heterozygous FH is a common disease with a prevalence of about 1/500 in most populations. Clinically, FH is characterized by elevated LDL cholesterol, tendon xanthomas and premature atherosclerosis. LÄS MER

4. 18. Functional analysis of genetic variants in putative low penetrate breast cancer genes

   Författare :Haixin Lei; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Breast cancer; low penetrance gene; CDH1; ILC; IDC; mutation; SNP; BA CHI; ATM; EST1; cryptic splice site; SR proteins; dinucleotide repeats; splicing silencer.;

   Sammanfattning : Paper I & II: CDH1 germline mutations predispose individuals to diffuse gastric cancer, but its role in breast cancer is less clear. Somatic CDH1 mutations were reported to be frequent in lobular tumours (ILC), but they have not been found in ductal carcinomas (IDC). LÄS MER

5. 19. Mutation profile at the hprt locus in T-cells of non-smoking males

   Författare :Anne-May Österholm; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :human T-cells; hprt mutation; in vivo; deletion; splicing; base substitution;

   Sammanfattning : Extensive studies have been done on mutations in several marker genes in order to predict health consequences such as carcinogenesis. However, more information about mutations arising in vivo in somatic cells is needed to understand the relationship between the different factors involved in mutagenesis such as DNA damage, DNA repair capacity and individual susceptibility, and to elucidate the influence of endogenous mechanisms and environmental exposures. LÄS MER

7. 20. Molecular genetic studies of three autosomal recessive disorders : Sjögren-Larsson syndrome, glutathione synthetase deficiency and congenital ichthyosis

   Författare :Maritta Pigg; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Sjögren-Larsson syndrome; glutathione synthetase deficiency; congenital ichthyosis; linkage analysis; allelic association; mutation analysis; transglutaminase 1 gene; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Sammanfattning : Investigations at the DNA level were performed in order to characterise the molecular basis forthree genetic disorders:Sjögren-Larsson syndrome (SLS) is characterised by congenital ichthyosis and severeneurological symptoms. Linkage analysis and allelic association of 24 Swedish families affectedby SLS showed linkage between the disease and the marker D17S805 on chromosome 17. LÄS MER