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Sammanfattning : Understanding signalling pathways that control pancreatic endocrine tumour (PET) development and proliferation may reveal novel targets for therapeutic intervention. The pathogenesis for sporadic and hereditary PETs, apart from mutations of the MEN1 and VHL tumour suppressor genes, is still elusive. LÄS MER
Sammanfattning : The multiple endocrine neoplasia type 1 (MEN1, OMIM 131 100) syndrome is an autosomal dominant trait with a near 100% penetrance and with an estimated prevalence of 2-20/100 000. The syndrome is characterized by neoplasia affecting the parathyroid glands (90-97%), enteropancreatic endocrine tissues (30-80%) and the anterior pituitary gland (15-50%) but tumors arc also found in other, both endocrine and non endocrine tissues. LÄS MER
Sammanfattning : The overall goal of this thesis has been to identify new genes and characterize them regarding the involvement in parathyroid tumor development. The parathyroid glands are responsible for the control of calcium homeostasis. Parathyroid tumors usually have a benign growth pattern, with less than 1% of the tumors being malignant. LÄS MER
Sammanfattning : Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant familial cancer syndrome characterized by tumors of the parathyroids, the endocrine pancreas and anterior pituitary. The MEN1 locus has been previously localized to chromosome 11q13 and subsequently a MEN1 minimum region was defined by a combination of linkage and tumor deletion studies. LÄS MER
Sammanfattning : 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. LÄS MER