Sökning: "Irina Golovleva"

Visar resultat 1 - 5 av 7 avhandlingar innehållade orden Irina Golovleva.

  1. 1. Genetic and epidemiological studies of hereditary colorectal cancer

    Författare :Kristina Cederquist; Henrik Grönberg; Irina Golovleva; Gösta Holmgren; Mef Nilbert; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Lynch syndrome; HNPCC; colorectal cancer; endometrial cancer; cancer risk; MSI; MLH1; MSH2; MSH6; genome-wide scan; Genetik; Clinical genetics; Klinisk genetik; medicinsk genetik; Medical Genetics;

    Sammanfattning : Lynch syndrome (Hereditary Nonpolyposis Colorectal Cancer, HNPCC) is the most common hereditary syndrome predisposing to colorectal cancer, accounting for 1-3% of all colorectal cancer. This multi-organ cancer predisposition syndrome is caused by mutations in the mismatch repair (MMR) genes, especially MLH1 and MSH2, and to lesser extents MSH6 and PMS2, which lead to widespread genetic instability and thus microsatellite instability (MSI). LÄS MER

  3. 2. Underlying genetic mechanisms of hereditary dystrophies in retina and cornea

    Författare :Jonsson Frida; Irina Golovleva; Carlo Rivolta; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Cornea; retina; gene; mutation detection; inherited diseases; genetik; Genetics;

    Sammanfattning : Inherited retinal and corneal dystrophies represent a group of disorders with great genetic heterogeneity. Over 250 genes are associated with retinal diseases and 16 genes are causative of corneal dystrophies. LÄS MER

  4. 3. Genetic mapping of retinal degenerations in Northern Sweden

    Författare :Linda Köhn; Irina Golovleva; Alison Hardcastle; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Bothnia dystrophy; cone dustrophy; linkage analysis; mutation; PITPNM3; PRPF31; retinitis pigmentosa; RLBP1; Medical genetics; Medicinsk genetik; genetik; Genetics;

    Sammanfattning : Inherited retinal degenerations are a group of disorders characterised by great genetic heterogeneity. Clinically, they can be divided into two large groups of diseases, those associated with night blindness, e.g. retinitis pigmentosa (RP), and those with macular malfunction, e. LÄS MER

  5. 4. Studies of LRIG1 and the ERBB receptor family in breast and colorectal cancer

    Författare :Ingrid Ljuslinder; Beatrice Malmer; Håkan Hedman; Roger Henriksson; Irina Golovleva; Mef Nilbert; Umeå universitet; []
    Nyckelord :breast cancer; colorectal cancer; LRIG1; EGFR; ERBB2; invasive margin; onkologi; Oncology;

    Sammanfattning : The LRIG1 gene (leucine-rich repeats and immunoglobulin like domains-1) at chromosome 3p14 is a proposed tumour suppressor gene whose gene product negatively regulates various receptor tyrosine kinases. This function has been the basis for classifying LRIG1 as a potential tumour suppressor gene (TSG). LÄS MER

  7. 5. Fuchs’ endothelial corneal dystrophy : Genetic aetiology and as a risk factor in cataract surgery

    Författare :Andreas Viberg; Berit Byström; Irina Golovleva; Patrik Danielson; Madeleine Zetterberg; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Fuchs’ endothelial corneal dystrophy; genetics; TCF4; trinucleotide repeat disorder; registry-based study; cataract surgery; outcome; PROM; corneal transplantation; dense cataract; posterior capsule rupture; oftalmiatrik; ophthalmology; Clinical Genetics; klinisk genetik;

    Sammanfattning : Fuchs’ endothelial corneal dystrophy (FECD) is a bilateral, often hereditary degenerative corneal disease, in which the disrupted endothelial cell function causes corneal swelling and reduced vision. An early clinical sign of FECD is corneal guttata, an irregularity of the endothelial layer. LÄS MER