Sökning: "menin"

Visar resultat 6 - 9 av 9 avhandlingar innehållade ordet menin.

  1. 6. 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

  3. 7. Molecular Genetic Studies of Sporadic and MEN1-Associated Endocrine Pancreatic Tumors

    Författare :Daniel Lindberg; Gunnar Westin; Göran Åkerström; Bo Wängberg; Uppsala universitet; []
    Nyckelord :Surgery; pancreatic endocrine tumor; MEN1; LOH; WNT7A; HDAC11; CDK4; CDKN2B p15; CDKN1B p27; CDKN2C p18; c-Myc; Smad4; pyrosequencing; epigenetic; methylation; tumor suppressor; Kirurgi;

    Sammanfattning : Pancreatic endocrine tumors (PETs) may cause typical syndromes of hormone excess, or appear clinically non-functioning without hormonal symptoms. PETs occur sporadically, in association with the multiple endocrine neoplasia type 1 (MEN1) syndrome, or rarely the von Hippel-Lindau syndrome. LÄS MER

  4. 8. 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. 9. 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