Sökning: "Parafibromin"

Hittade 4 avhandlingar innehållade ordet Parafibromin.

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

    Författare :Christofer Juhlin; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    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

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

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

    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

  4. 3. Genetic background of familial primary hyperparathyroidism

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

    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. 4. Genetic and epigenetic mechanisms in primary hyperparathyroidism

    Författare :Luqman Sulaiman; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Primary hyperparathyroidism (PHPT) is a common endocrine disorder characterized by abnormally excessive secretion of parathyroid hormone (PTH) and elevated serum calcium. PHPT patients can develop a wide range of complications affecting many body organs such as the skeleton, kidneys and heart. LÄS MER