Sökning: "X-chromosome inactivation"

Visar resultat 1 - 5 av 16 avhandlingar innehållade orden X-chromosome inactivation.

  1. 1. Molecular Analysis of Normal Human Skin and Basal Cell Carcinoma Using Microdissection Based Methods

    Författare :Anna Asplund; Fredrik Pontén; Uffe Birk Jenssen; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pathology; skin; basal cell carcinoma; microdissection; X-chromosome inactivation; Patologi; Pathology; Patologi;

    Sammanfattning : The aim of this thesis was to gain further insight into the biology of normal human skin and basal cell carcinoma (BCC). Morphology in combination with microdissection was used as primary tool for sampling. LÄS MER

  3. 2. Molecular Pathogenesis of Cervical Carcinoma : Analysis of Clonality, HPV16 Sequence Variations and Loss of Heterozygosity

    Författare :Xinrong Hu; Björn Hagmar; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; cervical carcinoma; CIN; HPV; LOH; X-chromosome inactivation; clonality; molecular pathogenesis; Genetik; Clinical genetics; Klinisk genetik; Pathology; patologi;

    Sammanfattning : A previous model of morphological pathogenesis assumed that cervical carcinoma is of monoclonal origin and progresses through multiple steps from normal epithelium via CINS into invasive carcinomas. The aim of this study was to investigate the molecular mechanism of pathogenesis of cervical neoplasia. LÄS MER

  4. 3. Molecular mechanisms in cervical carcinogenesis : Studies of clonality, somatic genetic alterations and human papillomavirus variants in cervical pre-invasive and invasive cancer

    Författare :Zhongmin Guo; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; cervical cancer; CIN; clonality; X-chromosome inactivation; LOH; HPV; chromosome 3p; chromosome 6; Genetik; Clinical genetics; Klinisk genetik; Pathology; patologi;

    Sammanfattning : Cervical cancer derives from a series of pre-invasive cervical neoplastic lesions termed CIN I-III (Cervical Intraepithelial Neoplasia) via typical multiple-step processes. In contrast to premalignant disorders in other organs, different degrees of CIN possess a distinct biological behaviour where a proportion spontaneously regress or persist, whereas some progress to invasive cancer. LÄS MER

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

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

    Sammanfattning : 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. LÄS MER

  7. 5. Sexually Dimorphic Gene Expression in the Mammalian Brain

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

    Sammanfattning : 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. LÄS MER