Sökning: "Splice variants"

Visar resultat 21 - 25 av 71 avhandlingar innehållade orden Splice variants.

  1. 21. Genetics, epigenetics and functional mechanisms in inherited corneal and retinal dystrophies

    Författare :Ida Maria Westin; Irina Golovleva; Berit Byström; Marie Burstedt; Ola Sandgren; Sudha Iyengar; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Epigenetics; Splicing; Methylation; Ophtalmology; FECD; Stargardt; Retinitis pigmentosa; ABCA4; EYS; TCF4; F5; THBD; Coagulation factor V; Thrombomodulin; medicinsk genetik; Medical Genetics;

    Sammanfattning : Inherited eye disorders (IED) are groups of genetically and clinically heterogenous conditions affecting different tissues in the eye. IED are most often progressive with reduced vision or legal blindness as outcome. LÄS MER

  3. 22. Alternative splicing of interleukin-7

    Författare :Nalini Kumar Vudattu; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Alternative splicing of pre-mRNA is the primary source of creating proteome diversity in humans; it is therefore highly relevant to disease and therapy. Alternative splicing has been described for many cytokines and these splice variants appear to function as either agonists or as antagonists of the wildtype cytokine. LÄS MER

  4. 23. Chondrocyte-matrix interactions: with emphasis on the collagen binding integrin a10ß1

    Författare :Lisbet Camper; Lunds universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; muscle system; Skeleton; chondrocyte; integrin; cartilage; chondroadherin; collagen; Biochemistry; metabolism; Biokemi; reumatologi; muskelsystem; Skelett; rheumatology locomotion;

    Sammanfattning : The work in this thesis has been focused on chondrocyte integrins and their interaction with the matrix proteins chondroadherin (CHAD) and collagen type II (CII). Affinity purification of CHAD-binding proteins from chondrocyte lysate, followed by immunoprecipitation of EDTA-eluted material identified alpha2beta1 as a CHAD-binding integrin. LÄS MER

  5. 24. Muscle cell integrins in vitro and in vivo : Identification and characterisation of a novel integrin, α11β1

    Författare :Teet Velling; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Cell and molecular biology; integrins; α7 integrin; α11 integrin; embryonic development; muscle; Cell- och molekylärbiologi; Cell and molecular biology; Cell- och molekylärbiologi; molekylär cellbiologi; Molecular Cellbiology;

    Sammanfattning : Integrins are heterodimeric receptors composed of non-covalently associated αand β subunits which have distinct functions on different cell types. α7β1integrin is an important laminin receptor in skeletal muscle. The mRNA andprotein expression patterns of α7A and α7B splice variants during mousedevelopment were studied. LÄS MER

  7. 25. Studies on the structure, function and expression of phospholipase A2

    Författare :Pontus Larsson Forsell; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Phospholipase A2 (PLA2) enzymes are widely distributed and the enzymes possess different functions such as a role in digestion and inflammation. PLA2 catalyzes the hydrolysis of the sn-2 acylester bond of phospholipids, yielding a free fatty acid and a lysophospholipid. LÄS MER