Sökning: "developmental disorders"

Visar resultat 1 - 5 av 131 avhandlingar innehållade orden developmental disorders.

  1. 1. Children with visual disorders : cognitive development, developmental disorders and consequences for treatment and counselling

    Författare :Ulla Ek; Michael Brambring; Stockholms universitet; []
    Nyckelord :SAMHÄLLSVETENSKAP; SOCIAL SCIENCES; visually impaired; children; development; developmental disorders; assessment; Psychology; Psykologi; psykologi; Psychology;

    Sammanfattning : The causes of visual impairment and blindness has changed over the years, in Sweden and in other industrialised countries, giving rise to a new population of visually impaired children. Damages to the posterior visual pathway and the brain are now common causes of visual impairment. LÄS MER

  3. 2. Developmental exposure to mixtures of environmental pollutants : Studies on metabolism, developmental processes, and reproductive organs in zebrafish and chicken embryos

    Författare :Anna Mentor; Maria Jönsson; Patrick Babin; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Mixtures; Developmental toxicology; Endocrine disrupting chemicals; Metabolism; Feminization; Zebrafish; Chicken embryo; Biology with specialization in Environmental Toxicology; Biologi med inriktning mot miljötoxikologi; Biology with specialization in Environmental Toxicology; Biologi med inriktning mot miljötoxikologi; Biology with specialization in Environmental Toxicology; Biologi med inriktning mot miljötoxikologi; Biology with specialization in Environmental Toxicology; Biologi med inriktning mot miljötoxikologi;

    Sammanfattning : Humans and wildlife are continuously exposed to mixtures of environmental pollutants. Mixture toxicity can be challenging to predict due to interactions between chemicals and thus whole-mixture approaches are crucial in toxicology. LÄS MER

  4. 3. PARN - A Tale of A de-Tailor : Functional importance of poly(A) degradation in developmental and telomere biology disorders

    Författare :Sethu Madhava Rao Gunja; Anders Virtanen; Jonas von Hofsten; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; PARN; Telomere biology disorders; snoRNAs; scaRNAs; TR TERC; Zebrafish; Biology with specialization in Molecular Cell Biology; Biologi med inriktning mot molekylär cellbiologi; Molekylär genetik; Molecular Genetics; Molekylär cellbiologi; Molecular Cellbiology;

    Sammanfattning : Poly(A)-specific ribonuclease (PARN) is a eukaryotic 3’-5’exoribonuclease that removes poly(A) tails of many coding and non-coding RNAs. In this thesis, we have studied the physiological role of PARN. LÄS MER

  5. 4. Long Noncoding RNA Mediated Regulation of Imprinted Genes

    Författare :Faizaan Mohammad; Chandrasekhar Kanduri; Kristian Helin; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Genomic imprinting; noncoding RNA; epigenetics; chromatin; DNA methylation; Developmental biology; Utvecklingsbiologi; Molecular biology; Molekylärbiologi; Biology with specialization in Molecular Biology; Biologi med inriktning mot molekylärbiologi;

    Sammanfattning : Genomic imprinting is an epigenetic phenomenon that causes a subset of mammalian genes to be expressed from only one allele in a parent-of-origin manner. The defects in the imprinting regulation result in disorders that affect development, growth and metabolism. LÄS MER

  7. 5. Models of Retinal Development and Disease

    Författare :Minas Hellsand; Finn Hallböök; Emma Andersson; Department of Cell and Molecular Biology Karolinska Institutet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Developmental neurobiology; retinal organoids; retinoblastoma; MYCN; Stargardt disease; Bardet-Biedl syndrome; model systems;

    Sammanfattning : For a model of a human disease to be valid and useful, it is important that key genotypic and phenotypic traits are shared between model system and human. The work in this thesis has been focused on generating new and characterizing spontaneous models of three genetic disorders affecting the retina: retinoblastoma, a childhood cancer with its origin in the fetal retina, Stargardt disease, a juvenile form of macular degeneration, and Bardet-Biedl syndrome, a pleiotropic ciliopathy featuring retinal degeneration. LÄS MER