Sökning: "regulatory sequence analysis"

Visar resultat 11 - 15 av 67 avhandlingar innehållade orden regulatory sequence analysis.

  1. 11. 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

  3. 12. Thermodynamics of Peptide Nucleic Acid Interactions with DNA

    Författare :Tommi Ratilainen; Chalmers tekniska högskola; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; thermodynamics; enthalpy-entropy compensation; ionic strength; nucleic acids; fluorescence energy transfer; PNA; calorimetry; sequence-specific binding;

    Sammanfattning : Peptide Nucleic Acid (PNA) is a DNA mimic with the natural nucleobases attached to a charge-neutral pseudopeptide backbone. It has remarkably strong and sequence-specific binding affinity to natural nucleic acids (DNA and RNA), mainly attributed to the lack of charge in the PNA backbone. LÄS MER

  4. 13. Real-time PCR and its application for protein quantification

    Författare :Kristina Lind; Chalmers tekniska högskola; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; ELISA; real-time immuno-PCR; real-time PCR; melt curve analysis; PSA; 3’UTR; TAP-tag; BOXTO; immuno-qPCR;

    Sammanfattning : The ability to quantify specific DNA sequences with real-time PCR has increased the possibilities for sensitive DNA analysis enormously. This sensitive technique can in optimal conditions detect one DNA copy and has a large quantification range. LÄS MER

  5. 14. Analysis of Genetic Alterations in Patients Affected with Neurofibromatosis Type 2 and its Associated Tumors

    Författare :Caisa Marie Hansson; Jan P. Dumanski; Juha Kere; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular biology; Neurofibromatosis type 2; schwannoma; schwannomatosis; meningioma; array-CGH; chromosome 22; DNA copy number variation; methylation; Molekylärbiologi; Molecular biology; Molekylärbiologi;

    Sammanfattning : Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilateral vestibular schwannomas (VS). Patients affected by a severe NF2 phenotype also presents with peripheral schwannomas, meningiomas and ependymomas. The closely related disorder schwannomatosis also displays multiple schwannomas, but never VS. LÄS MER

  7. 15. Neuro-immuno-regulation of inflammation in the colonic mucosa : Focus on mast cells and eosinophils in bowel disorders

    Författare :Maria Teresa Casado Bedmar; Åsa Keita; Johan D Söderholm; Marie Carlson; Melanie Gareau; Linköpings universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mast cells; Eosinophils; Vasoactive intestinal polypeptide; Neuro-immune; Intestinal barrier; Irritable bowel syndrome; Inflammatory bowel diseases; Ussing chamber; Advance image analysis;

    Sammanfattning : Intestinal homeostasis is key to control uptake across the mucosa and protect from harmful substances. Disturbances in the bidirectional communication between the gut and the brain are implicated in irritable bowel syndrome (IBS) and inflammatory bowel diseases (IBD), being Crohn’s disease (CD) and ulcerative colitis (UC) the two most common IBD subtypes. LÄS MER