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Showing result 1 - 5 of 7 swedish dissertations matching the above criteria.

2. 1. Localization and characterization of genes involved in parathyroid tumor development

   Author : Lars Forsberg; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Parathyroid; Hyperparathyroidsm; MEN1; HRPT2; Menin; Parafibromin; Chromosome 11; Chromosome 1;

   Abstract : 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. READ MORE

4. 2. Multiple endocrine neoplasia type 1 : clinical and molecular characterization

   Author : Bin Tean Teh; Karolinska Institutet; Karolinska Institutet; []
   Keywords : MEN1; PYGM; loss of heterozygosity; thymic carcinoid; HPT-JT; HRPT2; FIHP; familial acromegaly; tumor suppressor gene.;

   Abstract : 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. READ MORE

5. 3. Growth of parathyroid glands : genetic and functional aspects

   Author : Stiina Välimäki; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Parathyroid; primary hyperparathyroidism; secondary hyperparathyroidism; parathyroid carcinoma; chromosome 1; HDAC1; HRPT2; CASR; CAS; VDR; PTH; loss of heterozygosity; tumor suppressor gene; patch clamp; membrane potential; K channels;

   Abstract : 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. READ MORE

6. 4. Genetic background of familial primary hyperparathyroidism

   Author : Andrea Villablanca; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Parathyroid; primary hyperparathyroidism; MEN 1; HPT-JT; FIHP; Menin; Parafibromin; tumour suppressor gene; loss of heterozygosity; mutation analysis; immunohistochemistry;

   Abstract : 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. READ MORE

7. 5. Molecular aspects of parathyroid tumorigenesis : with focus on parafibromin and the Wnt pathway

   Author : Christofer Juhlin; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : 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. READ MORE