Sökning: "keratin mutation"

Visar resultat 1 - 5 av 8 avhandlingar innehållade orden 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

   Författare :Jean Christopher Chamcheu; Anders Vahlquist; Hans Törmä; Harshad Navsaria; Marie Virtanen; Torbjörn Egelrud; Uppsala universitet; []
   Nyckelord :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; Dermatology and venerology; Dermatologi och venerologi; Dermatologi och venereologi; Dermatology and Venerology;

   Sammanfattning : 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. LÄS MER

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

   Författare :Marie Virtanen; Uppsala universitet; []
   Nyckelord :Medical sciences; EHK; keratin; retinoids; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Dermatology and Venerology; dermatologi och venereologi;

   Sammanfattning : 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. LÄS MER

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

   Författare :Ylva Rosengardten; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : 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. LÄS MER

5. 4. Epithelial stem cells in Hutchinson-Gilford progeria syndrome

   Författare :Tomás McKenna; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : 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. LÄS MER

7. 5. 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