Sökning: "HRPT2"
Visar resultat 1 - 5 av 7 avhandlingar innehållade ordet HRPT2.
1. Localization and characterization of genes involved in parathyroid tumor development
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
2. Multiple endocrine neoplasia type 1 : clinical and molecular characterization
Sammanfattning : This thesis is based on clinicopathologic and genetic studies of MEN1 and MEN1-like syndromes. Linkage to the MENl locus in chromosome 11q13 was confirmed in the largest known MEN1 family and 5 Swedish MEN1 families. An accuracy of >99. LÄS MER
3. Growth of parathyroid glands : genetic and functional aspects
Sammanfattning : Ca2+ is an essential ion with a variety of important functions in the body and it is crucial that the Ca2+ levels are precisely regulated. One of the hormones regulating these processes is parathyroid hormone (PTH) secreted from the parathyroid glands. LÄS MER
4. Genetic background of familial primary hyperparathyroidism
Sammanfattning : In this thesis the aim has been to identify and characterise gene(s) involved in familial primary hyperparathyroidism (PHPT). In multiple endocrine neoplasia type 1 (MEN 1), the hyperparathyroidism-jaw tumour syndrome (HPT-JT) and familial isolated hyperparathyroidism (FIHP), in which primary hyperparathyroidism is seen in most or almost all gene carriers. LÄS MER
5. Molecular aspects of parathyroid tumorigenesis : with focus on parafibromin and the Wnt pathway
Sammanfattning : Primary hyperparathyroidism (PHPT) denotes the tumorous enlargement of one or several parathyroid glands and constitutes a common disorder, particularly pronounced among postmenopausal women. PHPT patients display hypercalcemia as a consequence of parathyroid hormone hypersecretion, and the symptomatology is habitually based on this metabolic aberrancy. LÄS MER