Sökning: "Niklas Dahl"

Visar resultat 11 - 15 av 17 avhandlingar innehållade orden Niklas Dahl.

  1. 11. Induced pluripotent stem cell (iPSC) modelling for the identification of mechanisms behind neurodevelopmental disorders

    Författare :Loora Laan; Niklas Dahl; Jens Schuster; Joakim Klar; Anna Falk; Jared Sterneckert; Uppsala universitet; []
    Nyckelord :Induced pluripotent stem cells; Neurogenesis; Neural differentiation; Down syndrome; Dravet syndrome; Ataxia; Medical Cell Biology; Medicinsk cellbiologi;

    Sammanfattning : Human induced pluripotent stem cells (iPSCs) have opened new possibilities to recapitulate disease mechanisms and to model disorders in vitro. In the studies presented here, iPSCs were established to model neural differentiation in Down syndrome (DS), caused by trisomy for chromosome 21 (T21); Dravet syndrome (DRS), caused by variants in the SCN1A gene; and an ataxia syndrome, caused by a variant in the NFASC gene. LÄS MER

  3. 12. Molecular Characterisation of Structural Chromosomal Abnormalities Associated with Congenital Disorders

    Författare :Mahmoud R. Mansouri; Niklas Dahl; Hans Van Bokhoven; Uppsala universitet; []
    Nyckelord :Genetics; Chromosomal abnormalities; Mental retardation; Hypospadias and anal malformation; Premature ovarian failure; Autism; Array-CGH; ZDHHC15; Genetik;

    Sammanfattning : Chromosomal abnormalities are defined as changes in the chromosome structure and fall in one of two categories. The first category is numerical alterations while the second category consists of structural abnormalities. Structural chromosomal abnormalities do not always interrupt genes in order to cause disease. LÄS MER

  4. 13. Studies of the Ribosomal Protein S19 in Erythropoiesis

    Författare :Hans Matsson; Niklas Dahl; Leif Carlsson; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; RPS19; Rps19; erythropoiesis; erythroblastopenia; Diamond-Blackfan; anemia; Genetik; Genetics; Genetik;

    Sammanfattning : Ribosomal proteins are components of the ribosome, the protein synthesis machinery. The ribosomal protein S19 gene (RPS19) is mutated in Diamond-Blackfan anemia, DBA, which is a rare congenital anemia with absence or reduction of erythroid precursors in bone marrow. In this thesis, the role of RPS19 in erythropoiesis is investigated. LÄS MER

  5. 14. 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. 15. Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling

    Författare :Doroteya Raykova; Niklas Dahl; Ann Nordgren; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Disease modeling; Mendelian disorders; iPSC; Whole exome sequencing; Transcriptome sequencing; Medical Science; Medicinsk vetenskap;

    Sammanfattning : Novel technologies for genome analysis have provided almost unlimited opportunities to uncover structural gene variants behind human disorders. Whole exome sequencing (WES) is especially useful for understanding rare Mendelian conditions, because it reduces the requirements for a priori clinical data, and can be applied on a small number of patients. LÄS MER