Search for dissertations about: "11q13 region"

Showing result 1 - 5 of 15 swedish dissertations containing the words 11q13 region.

2. 1. Isolation and characterization of genes within the region for multiple endocrine neoplasia type 1 on chromosome 11q13

   Author : Jacob Lagercrantz; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Multiple Endocrine Neoplasia type 1 MEN1 ; Chromosome 11q13; Phospholipase C Beta 3 gene PLCB3 ; Phospholipase C Beta 3 Neighbouring Gene PNG ; Vascular Endothelial Growth Factor VEGF ; VEGF Related Factor gene VRF .;

   Abstract : This thesis summarizes the investigations of three genes isolated from the locus for multiple endocrine neoplasia type 1 (MEN1) within the chromosomal region 11q13. As a common strategy for all three genes, the cDNA was sequenced, the genomic structure characterized, and the expression pattern analyzed by Northern blotting on human tissues and by in situ RNA hybridization on slides from rodent embryos. READ MORE

4. 2. Characterization of candidate disease genes from human chromosomes 11g13 and 22q

   Author : Darek Kedra; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Fugu rubripes; 11q13 region; MEN1; menin; GCK; DMPKL; meningioma; clathrin; adaptin; NIPSNAP; synaptogyrin; TOM1; SMARCB1;

   Abstract : Two regions of the human genome, 11q13 and 22q, have been shown to harbor numerous disease-related genes, among them tumor suppressor genes (TSGs). The aim of this project was to construct transcription maps within these chromosomal segments, and thus provide a basis for further analysis of some of the genes for their involvement in disease-related processes. READ MORE

5. 3. Gene mapping of atopic dermatitis

   Author : Cilla Söderhäll; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : Atopic dermatitis is a hereditary, pruritic, inflammatory and chronic skin disease that typically presents in early childhood. It is often associated with other atopic manifestations, such as asthma, allergic rhinoconjunctivitis, and elevated total and/or allergen-specific serum lgE levels. READ MORE

6. 4. Endocrine tumour development : with special focus on chromosome arms 1p and 11q

   Author : Brita Nord; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Endocrine tumour; Follicular thyroid tumour; Malignant melanoma; Midgut carcinoid; Pheochromocytoma; Abdominal paraganglioma; Merkel cell carcinoma; MEN1; SDHD; RIZ;

   Abstract : The overall goal of this thesis has been to characterise the involvement of chromosome arms 1p and 11 q in the development of endocrine tumours. The MEN1 gene was analysed as a candidate tumour suppressor gene by screening for mutations in follicular thyroid tumours, malignant melanomas, pheochromocytomas, and abdominal paragangliomas. READ MORE

7. 5. Genetic studies of atopic dermatitis

   Author : Maria Bradley; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Atopic dermatitis; genome-wide linkage analysis; sib pairs; candidate genes; nonparametric linkage;

   Abstract : Known from ancient times, atopic dermatitis is now the most prevalent chronic inflammatory skin disease in Swedish children. This is the result of a marked increase over the past few decades. READ MORE