Search for dissertations about: "Haploinsufficiency"

Showing result 1 - 5 of 17 swedish dissertations containing the word Haploinsufficiency.

2. 1. The MEN 1 Pancreas : Tumor Development and Haploinsufficiency

   Author : Margareta Halin Lejonklou; Britt Skogseid; Peter Stålberg; Andreea Barbu; Gerard Doherty; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEN 1; PNET; tumor development; haploinsufficiency; survivin; Endokrinologi och Diabetologi; Endocrinology and Diabetology;

   Abstract : 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. READ MORE

4. 2. Molecular Mechanisms of Frontotemporal Lobar Degeneration

   Author : Lena Skoglund; Anna Glaser; Martin Ingelsson; Lars Lannfelt; Stuart Pickering-Brown; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Frontotemporal lobar degeneration; Frontotemporal dementia; Tau; Progranulin; Alternative splicing; Nonsense-mediated decay; Haploinsufficiency;

   Abstract : 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. READ MORE

5. 3. Ribosomal Proteins in Diamond-Blackfan Anemia : Insights into Failure of Ribosome Function

   Author : Jitendra Badhai; Niklas Dahl; Anthony Wright; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Diamond-Blackfan anemia; RPS19; Ribosomal proteins; Haploinsufficiency; cell cycle; Apoptosis; Erythropoiesis; Medical genetics; Medicinsk genetik; Clinical Genetics; klinisk genetik;

   Abstract : 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. READ MORE

6. 4. Genetics of diabetic subtypes

   Author : Camilla Cervin; Diabetes - klinisk obesitasforskning; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Endocrinology; secreting systems; diabetology; Endokrinologi; Mutation; Association; Genetics; LADA; Diabetes; MODY; sekretion; diabetologi;

   Abstract : 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. READ MORE

7. 5. Protein and MRI profiling of genetic frontotemporal dementia

   Author : Abbe Ullgren; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : 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. READ MORE