Sökning: "haploinsufficiency"
Visar resultat 1 - 5 av 17 avhandlingar innehållade ordet haploinsufficiency.
1. The MEN 1 Pancreas : Tumor Development and Haploinsufficiency
Sammanfattning : Multiple Endocrine Neoplasia Type I Syndrome (MEN 1) is a monogenic autosomal dominantly inherited cancer syndrome caused by a heterozygous loss of the MEN1 gene, predisposing for endocrine cell proliferation and tumor formation. MEN 1 carriers classically develop tumors in endocrine organs; the parathyroids, the endocrine pancreas, and the pituitary. LÄS MER
2. Molecular Mechanisms of Frontotemporal Lobar Degeneration
Sammanfattning : The aim of this thesis was to identify genetic factors involved in frontotemporal lobar degeneration (FTLD), a neurodegenerative disorder clinically characterised by a progressive change in personality, behaviour and language. FTLD is a genetically complex disorder and a positive family history is found in up to 40% of the cases. LÄS MER
3. Ribosomal Proteins in Diamond-Blackfan Anemia : Insights into Failure of Ribosome Function
Sammanfattning : Diamond-Blackfan anemia (DBA) is a severe congenital anemia characterized by a defect in red blood cell production. The disease is associated with growth retardation, malformations, a predisposition for malignant disease and heterozygous mutations in either of the ribosomal protein (RP) genes RPS7, RPS17, RPS19, RPS24, RPL5, RPL11 and RPL35a. LÄS MER
4. Genetics of diabetic subtypes
Sammanfattning : There are two major types of diabetes mellitus, Type 1 Diabetes (T1D) and Type 2 Diabetes (T2D), however a number of subtypes have been defined and classified. Maternally Inherited Diabetes and Deafness (MIDD) and Maturity Onset Diabetes of the Young (MODY) are monogenic forms, whereas Latent Autoimmune Diabetes in Adults (LADA) is thought to be a polygenic subtype similar to T1D. LÄS MER
5. Protein and MRI profiling of genetic frontotemporal dementia
Sammanfattning : Frontotemporal dementia (FTD) is a group of neurodegenerative diseases with a wide range of symptoms such as loss of inhibition and social cognition, language impairment and motor dysfunction. Genetic FTD, characterized by mutations in one of several disease-causing genes, accounts for 10 - 30% of all cases of FTD. LÄS MER