Sökning: "CDH1"

Visar resultat 1 - 5 av 9 avhandlingar innehållade ordet CDH1.

  1. 1. Genetic variation and prostate cancer : population-based association studies in Sweden

    Författare :Sara Lindström; Henrik Grönberg; Fredrik Wiklund; John Todd; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Prostate cancer; epidemiology; SRD5A2; ERG; progression; genetics; association studies; polymorphism; haplotype; CDH1; AR; CYP17; Oncology; Onkologi;

    Sammanfattning : Prostate cancer constitutes the most common malignancy and the most common cause of cancer‐related death in Swedish men. A large body of evidence suggests that inherited genetic variants contribute to both development and progression of prostate cancer. LÄS MER

  3. 2. Functional analysis of genetic variants in putative low penetrate breast cancer genes

    Författare :Haixin Lei; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Breast cancer; low penetrance gene; CDH1; ILC; IDC; mutation; SNP; BA CHI; ATM; EST1; cryptic splice site; SR proteins; dinucleotide repeats; splicing silencer.;

    Sammanfattning : Paper I & II: CDH1 germline mutations predispose individuals to diffuse gastric cancer, but its role in breast cancer is less clear. Somatic CDH1 mutations were reported to be frequent in lobular tumours (ILC), but they have not been found in ductal carcinomas (IDC). LÄS MER

  4. 3. Spinal and bulbar muscular atrophy : new insights into the disease mechanism and prospects for pharmacological therapy

    Författare :Laura C Bott; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Expansion of a polyglutamine-encoding trinucleotide CAG repeat in the androgen receptor (AR) gene causes spinal and bulbar muscular atrophy (SBMA, or Kennedy’s disease). SBMA is an adult-onset disease characterized by progressive muscle weakness and atrophy due to the degeneration of lower motor neurons in the brainstem and spinal cord. LÄS MER

  5. 4. Recurrent Non-Muscle-Invasive Bladder Cancer

    Författare :Sigurdur Gudjonsson; Urologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; early instillation; biopsies; biomarkers; recurrence; bladder cancer; non-muscle-invasive; tissue microarray; gene-expression;

    Sammanfattning : A characteristic feature of non-muscle-invasive bladder cancer (NMIBC) is the high risk of recurrent disease after primary treatment. Although only a minority of cases eventually progress to a life-threatening muscle-invasive tumour, it is necessary to conduct long-term follow-up with repeated cystoscopies. LÄS MER

  7. 5. Regulation of the Expression of Mouse Ribonucleotide Reductase Small Subunit at the Levels of Transcription and Protein Degradation

    Författare :Anna Lena Chabes; Lars Thelander; Ylva Engström; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular biology; ribonucleotide reductase; transcription; protein degradation; cell cycle; Molekylärbiologi; Molecular biology; Molekylärbiologi; Medical Cell Biology; medicinsk cellbiologi;

    Sammanfattning : Deoxyribonucleic acid (DNA) carries all the genetic information of a cell. Ribonucleotide reductase (RNR) provides balanced pools of all four dNTPs, the building blocks of DNA. These building blocks are needed during DNA synthesis and repair. LÄS MER