Sökning: "LRP5"

Visar resultat 1 - 5 av 6 avhandlingar innehållade ordet LRP5.

  1. 1. Wnt/β-Catenin Signalling in Parathyroid Tumours

    Författare :Peyman Björklund; Gunnar Westin; Göran Åkerström; Tommy Andersson; Uppsala universitet; []
    Nyckelord :Surgery; Hyperparathyroidism; β-catenin; Mutation; Human parathyroid cell line; LRP5; Alternative splicing; Kirurgi;

    Sammanfattning : Primary hyperparathyroidism (pHPT) due to parathyroid tumours with hypersecretion of parathyroid hormone and hypercalcaemia is a common disease with incompletely understood etiology affecting more than 1 % of the population, primarily postmenopausal women. In secondary hyperparathyroidism (sHPT), parathyroid tumours develop in response to calcium and vitamin D deficiency generally in patients with uraemia. LÄS MER

  3. 2. Wnt/β-catenin Signaling and Epigenetic Deregulation in Breast Cancer and Parathyroid Tumours

    Författare :Jessica Svedlund; Gunnar Westin; Göran Åkerström; Peyman Björklund; Ola Nilsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Wnt signaling; parathyroid; epigenetic; Medicin; Medicine; Biology with specialization in Molecular Biology; Biologi med inriktning mot molekylärbiologi;

    Sammanfattning : The Wnt/β-catenin signaling pathway is often deregulated in cancer. Here we investigate Wnt/β-catenin signaling, aberrant accumulation of β-catenin, and epigenetic deregulation in breast cancer and parathyroid tumours. LÄS MER

  4. 3. A frizzled quest to dissect the molecular pharmacology of WNT signaling : from biology to signaling mechanism(s)

    Författare :Elisa Arthofer; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The wingless/int1 (WNT)/Frizzled (FZD) family of signal transduction pathways is highly conserved across species and controls essential physiological functions important for embryonic development, stem cell renewal, proliferation, differentiation, and cell polarity. Dysregulation of these signaling pathways leads to developmental abnormalities or other conditions such as inflammation, cancer, or neurological disorders. LÄS MER

  5. 4. Analysis of inherited and somatic variants to decipher canine complex traits

    Författare :Kate Megquier; Kerstin Lindblad-Toh; Ingegerd Elvers; David Sargan; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; dog; genetics; GWAS; exome; cancer; DM;

    Sammanfattning : This thesis presents several investigations of the dog as a model for complex diseases, focusing on cancers and the effect of genetic risk factors on clinical presentation.In Papers I and II, we performed genome-wide association studies (GWAS) to identify germline risk factors predisposing US golden retrievers to hemangiosarcoma (HSA) and B-cell lymphoma (BLSA). LÄS MER

  7. 5. Genetic causes and molecular mechanisms underlying rare metabolic bone diseases

    Författare :Alice Costantini; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The skeletal system provides support for the body, enables movement and protects inner organs. Moreover, it supplies blood cells and acts as a reservoir for minerals and fat. Several external factors, including nutrition and long-term illness, influence bone health but genetic factors also play an important role. LÄS MER