Sökning: "TCF4"

Visar resultat 1 - 5 av 10 avhandlingar innehållade ordet TCF4.

  1. 1. 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

  3. 2. 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

  4. 3. Functional genomics at the interface of protein expression and biophysical analysis

    Författare :Xiaoqiu Wu; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Protein characterization is central to any functional genomics effort, hence protein expression and purification play fundamental roles in these initiatives. In this study strategies for protein expression in E. coli were analysed, and several parameters were investigated respect to high-level expression of functional proteins. LÄS MER

  5. 4. Regulation of chromatin transitions in the 3D architecture of the nucleus

    Författare :Honglei Zhao; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The thesis explores the dynamic features and functions of chromatin crosstalk in the 3D nucleus space, with a focus on the regulation of chromatin transitions. In Paper I we employed the circular chromosome conformation capture assay (4C) and Chromatin in situ Proximity (ChrISP) technique to uncover an inter-chromosomal chromatin fiber interactome comprising both transcriptionally active circadian genes and repressed lamina-associated domains (LADs). LÄS MER

  7. 5. Functional studies of deubiquitinating enzymes

    Författare :Bin Zhao; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The attachment of ubiquitin to substrate proteins is a key process in regulating cellular events such as cell cycle progression, signal transduction, differentiation, apoptosis, and the clearance of misfolded or aberrant proteins. Like other post-translational modifications, ubiquitination is also reversible. LÄS MER