Avancerad sökning

Visar resultat 11 - 15 av 23 avhandlingar som matchar ovanstående sökkriterier.

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

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

   Sammanfattning : 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. LÄS MER

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

   Författare :Jacob Lagercrantz; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :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 .;

   Sammanfattning : 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. LÄS MER

4. 13. The MEN 1 Pancreas : Tumor Development and Haploinsufficiency

   Författare :Margareta Halin Lejonklou; Britt Skogseid; Peter Stålberg; Andreea Barbu; Gerard Doherty; Uppsala universitet; []
   Nyckelord :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;

   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

5. 14. From gene mutation to gene expression : studies on multiple endocrine neoplasia type 1 and vascular endothelial growth factors

   Författare :Emma Tham; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Multiple endocrine neoplasia type 1; mutation detection; Vascular Endothelial Growth Factors; recombinant protein; dilated cardiomyopathy; multiple sclerosis;

   Sammanfattning : Multiple Endocrine Neoplasia type 1, MEN1, is an inherited cancer syndrome whose gene was localised to chromosome 11q13 in 1988. A number of !candidate genes were characterised before the MEN1 gene was cloned in 1997. DNA sequencing of MEN1 to search for mutations in patients is used as a complement to clinical diagnosis. LÄS MER

7. 15. New Insights in Genetic and Epigenetic Mechanisms Involved in Parathyroid Tumorigenesis

   Författare :Lee Starker; Peyman Björklund; Barbra Miller; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Parathyroid; yumorigenesis; mutation; exome sequencing;

   Sammanfattning : Primary hyperparathyroidism (pHPT) is a pathology associated with one or multiple hyperfunctioning parathyroid glands.  The disease prevalence occurs in roughly 1-2% of the population primarily post-menopausal women.  The molecular pathology of the disease is poorly understood. LÄS MER