Sökning: "Recessive genes"

Visar resultat 1 - 5 av 56 avhandlingar innehållade orden Recessive genes.

  1. 1. Congenital Recessive Ichthyosis : Studies of Gene Expressions Related to Keratinocyte Differentiation and Skin Barrier Repair

    Författare :Hanqian Zhang; Hans Törmä; Anders Vahlquist; Marie Virtanen; Mikael Ivarsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; genodermatoses; oligoarray; trancriptomics; transglutaminase-1; cornified envelope; peroxisome proliferator-activated receptor δ; all-trans retinoic acids.; Dermatologi och venereologi; Dermatology and Venerology;

    Sammanfattning : Autosomal recessive congenital ichthyosis (ARCI) is a rare monogenetic disorder characterized by a defective skin barrier, hyperkeratosis, and dry, scaly skin. It affects keratinocyte differentiation and is caused by mutations in any of at least 12 genes believed to control the formation of ω-O-acylceramide and the corneocyte lipid envelope (CLE): ABCA12, ALOXE3, ALOX12B, CERS3, CYP4F22, ELOVL4, LIPN, NIPAL4, PNPLA1, SDR9C7, SLC27A4, and TGM1. LÄS MER

  3. 2. Recessive parkinsonism, mitochondria and translational regulation

    Författare :Jeff Blackinton; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Three genes are known to cause recessive forms of Parkinson disease (PD) in humans: parkin, PINK1 and DJ-1. Of these, the rarest is DJ-1; less than fifty known cases worldwide are due to mutations in DJ-1. LÄS MER

  4. 3. Positional Cloning of Disease Causing Genes : A Genetic Study of Obesity, Ichthyosis Prematurity Syndrome and Meniere's Disease

    Författare :Joakim Klar; Niklas Dahl; Catharina Larsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Positional cloning; Obesity; Ichthyosis; Meniere’s disease; RORa; PIK3C2G; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : Positional cloning is a method to identify genes from their position in the genome without prior knowledge about function. We used this approach to investigate the basis for three distinct genetic disorders; Obesity, Ichthyosis Prematurity Syndrome and Meniere's disease. LÄS MER

  5. 4. Identification of Candidate Genes in Four Human Disorders

    Författare :Malin Melin; Niklas Dahl; Anders Isaksson; Juha Kere; Uppsala universitet; []
    Nyckelord :Genetics; Ichthyosis; Leukodystrophy; Kostmann disease; Autism; Genetic disorders; Candidate gene; Genetik;

    Sammanfattning : The aim of this thesis has been to identify genes and gene regions underlying four different disorders. In papers I-IV, positional cloning methods, such as linkage, association and haplotype analysis have been used for the identification of genomic regions associated with the ichthyosis prematurity syndrome (IPS), adult-onset autosomal dominant leukodystrophy (ADLD) and Kostmann disease. LÄS MER

  7. 5. Mechanism of action of autosomal recessive juvenile parkinsonism gene mutations

    Författare :Anna Sandebring; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Parkinson Disease (PD) is the most common neurodegenerative movement disorder. Although PD is a largely sporadic disease, several genes has been linked to familial forms of PD. This thesis focuses on the mechanism of function of the Autosomal Recessively Juvenile Parkinsonism (AR-JP) associated genes parkin, PTEN induced kinase 1 (PINK1) and DJ-1. LÄS MER