Avancerad sökning

Hittade 2 avhandlingar som matchar ovanstående sökkriterier.

1. 1. 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

3. 2. On Parkinson's disease and schizophrenia : case control studies, cellular localization and modelling of candidate genes

   Författare :Andrea Carmine; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Genetic; association; dopamine; Parkinson s disease; schizophrenia; retinoid; aldehyde; toxicity;

   Sammanfattning : The causes of many major neurodegenerative, neurodevelopmental and psychiatric diseases are unknown. This thesis has aimed at applying knowledge about the dopamine (DA) neuron system and other key systems to clinical material (DNA and post mortem brain tissue) collected from patients with Parkinson s disease (PD), schizophrenia (SZ) and controls, in order to decipher genetic risk factors. LÄS MER