Search for dissertations about: "keratin mutation"

Showing result 1 - 5 of 9 swedish dissertations containing the words keratin mutation.

  1. 1. Disease-causing Keratin Mutations and Cytoskeletal Dysfunction in Human Skin In vitro Models and new Pharmacologic Strategies for Treating Epidermolytic Genodermatoses

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Jean Christopher Chamcheu; Anders Vahlquist; Hans Törmä; Harshad Navsaria; Marie Virtanen; Torbjörn Egelrud; [2010]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; epidermolysis bullosa simplex; epidermolytic ichthyosis; genodermatoses; keratin; keratin mutation; keratinocytes; gene therapy; pharmacological therapy; immortalization; gene regulation; trimethylamine N-oxide TMAO ; sodium 4-phenylbutyrate 4-PBA ; tissue engineering; cell culture; heat shock proteins; MAP kinases; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Dermatology and venerology; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Dermatologi och venerologi; Dermatologi och venereologi; Dermatology and Venerology;

    Abstract : Epidermolysis bullosa simplex (EBS) and epidermolytic ichthyosis (EI) are rare skin fragility diseases characterized by intra-epidermal blistering due to autosomal dominant-negative mutations in basal (KRT5 or KRT14) and suprabasal (KRT1 or KRT10) keratin genes,  respectively. Despite vast knowledge in the disease pathogenesis, the pathomechanisms are not fully understood, and no effective remedies exist. READ MORE

  2. 2. On keratin mutations in epidermolytic hyperkeratosis and the regulation of keratin expression by retinoids

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Marie Virtanen; [2001]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medical sciences; EHK; keratin; retinoids; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Dermatology and Venerology; dermatologi och venereologi;

    Abstract : Epidermolytic hyperkeratosis is a rare inherited disease of the skin caused by a dominant-negative mutation in keratin 1 (K1) or 10 (K10). Keratins are the major structural protein in epidermis and mutations causes instability of intermediate filament and keratinocyte fragility. READ MORE

  3. 3. Mouse models for understanding the molecular mechanism of bone disease in Hutchinson-Gilford progeria syndrome

    University dissertation from Stockholm : Karolinska Institutet, Dept of Biosciences and Nutrition

    Author : Eva Schmidt; Karolinska Institutet.; Karolinska Institutet.; [2011]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Abstract : Aging is a complex process affecting all people. Intense research is applied to elucidate the biological basis of aging and disease that develop with aging. Studies of progeroid syndromes, where aging happens in an accelerated speed, might be useful to understand the molecular mechanisms in physiological aging. READ MORE

  4. 4. Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance

    University dissertation from Stockholm : Karolinska Institutet, Dept of Biosciences and Nutrition

    Author : Ylva Rosengardten; Karolinska Institutet.; Karolinska Institutet.; [2011]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Abstract : Hutchinson-Gilford progeria syndrome (HGPS) is a very rare genetic disease that presents some features of accelerated aging. Children with the disease are born appearing healthy but start to develop signs of the disease within their first years of life. READ MORE

  5. 5. Epithelial stem cells In Hutchinson-Gilford progeria syndrome

    University dissertation from Stockholm : Karolinska Institutet, Dept of Biosciences and Nutrition

    Author : Tomás McKenna; Karolinska Institutet.; Karolinska Institutet.; [2015]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Abstract : Hutchinson-Gilford progeria syndrome (HGPS) and restrictive dermopathy (RD) are two rare genetic disorders that affect children. Complications from cardiovascular disease, including atherosclerosis, are the most common cause of death in HGPS, which occurs at around 13 years of age. READ MORE