Sökning: "TOM1"

Hittade 3 avhandlingar innehållade ordet TOM1.

  1. 1. Characterization of candidate disease genes from human chromosomes 11g13 and 22q

    Författare :Darek Kedra; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Fugu rubripes; 11q13 region; MEN1; menin; GCK; DMPKL; meningioma; clathrin; adaptin; NIPSNAP; synaptogyrin; TOM1; SMARCB1;

    Sammanfattning : Two regions of the human genome, 11q13 and 22q, have been shown to harbor numerous disease-related genes, among them tumor suppressor genes (TSGs). The aim of this project was to construct transcription maps within these chromosomal segments, and thus provide a basis for further analysis of some of the genes for their involvement in disease-related processes. LÄS MER

  3. 2. Genetic Predisposition to Sporadic and Familial Multiple Myeloma

    Författare :Britt-Marie Halvarsson; Avdelningen för hematologi och transfusionsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; multiple myeloma; genetics; inherited predisposition; familial multiple myeloma; GWAS; polygenic risk score;

    Sammanfattning : Multiple Myeloma (MM) is the second most common hematological malignancy. It is defined by an uncontrolled growth of plasma cells, usually in the bone marrow. Clinically it is complicated by hypercalcemia, renal failure, anaemia, and bone pain. LÄS MER

  4. 3. Identification and characterization of DNA sequence variants associated with multiple myeloma

    Författare :Mina Ali; Avdelningen för hematologi och transfusionsmedicin; []
    Nyckelord :Multiple myeloma; inherited susceptibility; genome-wide association study; ELL2; expression quantitative trait loci;

    Sammanfattning : Multiple myeloma (MM) is the second most common hematologic malignancy. The disease is characterized by an uncontrolled growth of malignant plasma cells in the bone marrow, producing a monoclonal immunoglobulin (“M protein”) that can be detected in peripheral blood. LÄS MER