Sökning: "Splice variants"

Visar resultat 11 - 15 av 71 avhandlingar innehållade orden Splice variants.

  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. Oligonucleotide therapies for RNA and DNA : modulation of natural splice-variants, DNA structure and characterization of new synthetic nucleotides and reporter cell lines

    Författare :Cristina S J Rocha; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Oligonucleotide therapy is an evolving field having shown fast and important developments in the last years. From genetics to metabolic, inflammatory, immunodeficiency diseases, cancer and viral infections the medical applications for this type of therapy are becoming broader every day. LÄS MER

  4. 13. p53 inactivation by point mutations and splice site mutations in human and mouse tumors

    Författare :Kristinn P Magnússon; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :p53; Burkitt Iymphoma; apoptosis; alternative splicing; mutation; ascites;

    Sammanfattning : The p53 tumor suppressor gene is frequently mutated in human tumors. p53 induces cell cycle arrest and/or apoptosis in response to cellular stress, such as DNA damage, hypoxia and certain activated oncogenes like c-myc. The status of p53 in Burkitt's Iymphoma (BL) cell lines was investigated. The majority of BL lines expressed mutated p53 protein. LÄS MER

  5. 14. Mechanisms by which variants in the TCF7L2 gene increase the risk of developing Type 2 diabetes

    Författare :Yuedan Zhou; diabetes och endokrinologi Genomik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; TCF7L2; rs7903146; Type 2 diabetes; β cell function; β cell survival; insulin secretion; proinsulin synthesis; proinsulin-to-insulin conversion; insulin maturation; open chromain; exon skipping; p53; TP53INP1; ISL1; MAFA; NEUROD1; PDX1; NKX6.1; PCSK1; PCSK2; SLC30A8; GWAS.;

    Sammanfattning : Type 2 diabetes mellitus (T2DM) is a heterogeneous disease with a multifactorial aetiology comprising of genetic and environmental factors. The common variant most highly associated with T2DM known to date is a SNP rs7903146 in the TCF7L2 gene. However, the role TCF7L2 plays in the development of T2DM was unclear. LÄS MER

  7. 15. Molecular complexities of patched signaling in cancer development

    Författare :Fahimeh Rahnama; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Basal Cell Carcinoma; Patched; Sonic Hedgehog; Desert Hedgehog; Splice variants; Skin;

    Sammanfattning : Basal Cell Cancer (BCC) is the most common cancer in the Western world. Although BCCs hardly ever metastasize, invasive growth may cause considerable local tissue destruction. BCCs mainly occur as sporadic tumors but can also be found in a hereditary form in the Nevoid Basal Cell Carcinoma Syndrome (NBCCS). LÄS MER