Search for dissertations about: "X-chromosome inactivation XCI ."

Showing result 1 - 5 of 6 swedish dissertations containing the words X-chromosome inactivation XCI ..

  2. 1. Genetic studies of neurological disorders : Rett syndrome and HD-like familial prion disease

    Author : Fengqing Xiang; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Huntington s disease HD ; MECP2 gene; mutation; linkage analysis; prion disease; prion protein PrP ; Rett syndrome RTT ; X-chromosome inactivation XCI .;

    Abstract : Rett syndrome (RTT) is a severe childhood neurodevelopmental disorder, which almost exclusively affects females with a prevalence of 1 in 10 000-15 000, >99% of the cases are sporadic. It is commonly thought of as an X-linked dominant disorder lethal to males. READ MORE

  4. 2. Sexually Dimorphic Gene Expression in the Mammalian Brain

    Author : Björn Reinius; Elena Jazin; Klas Kullander; Arthur Arnold; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Developmental biology; Utvecklingsbiologi;

    Abstract : In recent times, major advances have been made towards understanding sexual dimorphism in the brain on a molecular basis. This thesis summarises my modest contributions to these endeavours. Sexual dimorphisms are manifested throughout the spectrum of biological complexity, and can be studied by numerous approaches. READ MORE

  5. 3. Laminins in stemness and germ cell development in human

    Author : Magdalena Kurek; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Stem cell niches regulate the fine balance between self-renewal and differentiation of various stem cells. Although crucial hallmarks of stem cell niches, such as the mechanical signalling, neural inputs communicating distant cues, the proximity to blood vessels and the structural support by the surrounding basement membrane (BM), have been evaluated in different niches, little much attention has been directed to the specific composition of the BM. READ MORE

  6. 4. Exploring mammalian preimplantation development and pluripotency

    Author : John Paul Schell; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Our current understanding of how stem cells arise and transition during embryonic development has been limited by analysis tools that have lacked single-cell, whole-genome resolution. This thesis emphasizes the use of novel techniques and cutting-edge technology to better evaluate the biological underpinning of stem cell dynamics in both mouse and human. READ MORE

  7. 5. The Epigenetics of Gene Transcription and Higher Order Chromatin Conformation

    Author : Vijay Kumar Tiwari; Rolf Ohlsson; Terumi Kohwi-Shigematsu; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Developmental biology; DNA-protein interactions; Nuclear organization; Transcriptional regulation; Higher order chromatin conformations; Epigenetic reprogramming; Utvecklingsbiologi; Developmental biology; Utvecklingsbiologi;

    Abstract : It is becoming increasingly clear that long-range control of gene expression is mediated through direct physical interactions between genes and regulatory elements, either intra- or interchromosomally. In addition to transcriptional initiation, formation of active chromatin hubs seem to be crucial for increased transcriptional efficiency as well as insulation from neighbouring heterochromatic environment. READ MORE