Search for dissertations about: "Recessive"

Showing result 1 - 5 of 120 swedish dissertations containing the word Recessive.

2. 1. Congenital Recessive Ichthyosis : Studies of Gene Expressions Related to Keratinocyte Differentiation and Skin Barrier Repair

   Author : Hanqian Zhang; Hans Törmä; Anders Vahlquist; Marie Virtanen; Mikael Ivarsson; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; genodermatoses; oligoarray; trancriptomics; transglutaminase-1; cornified envelope; peroxisome proliferator-activated receptor δ; all-trans retinoic acids.; Dermatologi och venereologi; Dermatology and Venerology;

   Abstract : Autosomal recessive congenital ichthyosis (ARCI) is a rare monogenetic disorder characterized by a defective skin barrier, hyperkeratosis, and dry, scaly skin. It affects keratinocyte differentiation and is caused by mutations in any of at least 12 genes believed to control the formation of ω-O-acylceramide and the corneocyte lipid envelope (CLE): ABCA12, ALOXE3, ALOX12B, CERS3, CYP4F22, ELOVL4, LIPN, NIPAL4, PNPLA1, SDR9C7, SLC27A4, and TGM1. READ MORE

4. 2. Insights into breast cancer: New familial patterns and identification of a potential predictive marker

   Author : Carolina Ellberg; Tumörmikromiljö; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; BRCA1; BRCA2; Spider telangiectasias; Heredity; Parental inheritance; Recessive; familial; Breast cancer;

   Abstract : The last proportion of heredity in breast cancer has proven to be somewhat elusive despite massive attempts to identify the associated factors. Approximately 50 percent of breast cancer caused by familial factors is currently explained. READ MORE

5. 3. Recessive parkinsonism, mitochondria and translational regulation

   Author : Jeff Blackinton; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : Three genes are known to cause recessive forms of Parkinson disease (PD) in humans: parkin, PINK1 and DJ-1. Of these, the rarest is DJ-1; less than fifty known cases worldwide are due to mutations in DJ-1. READ MORE

6. 4. Living with recessive limb-girdle muscular dystrophy : affected young adults’ and parents’ perspectives, studied througha salutogenic framework

   Author : Anna Carin Aho; Katarina Hjelm; Gerd Ahlström; Linnéuniversitetet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic diseases; LGMD2; muscular dystrophy; parents; salutogenic; sense of coherence; young adults; Vårdvetenskap; Caring Science;

   Abstract : Aim: The overall aim of this thesis, using a salutogenic framework, was to develop knowledge about experiences and perceptions of living with recessive limb-girdle muscular dystrophy and its influences on health, from the affected young adults’ and their parents’ perspectives.Methods: A qualitative explorative and descriptive study design was used. READ MORE

7. 5. Molecular genetic studies of three autosomal recessive disorders : Sjögren-Larsson syndrome, glutathione synthetase deficiency and congenital ichthyosis

   Author : Maritta Pigg; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Sjögren-Larsson syndrome; glutathione synthetase deficiency; congenital ichthyosis; linkage analysis; allelic association; mutation analysis; transglutaminase 1 gene; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Abstract : Investigations at the DNA level were performed in order to characterise the molecular basis forthree genetic disorders:Sjögren-Larsson syndrome (SLS) is characterised by congenital ichthyosis and severeneurological symptoms. Linkage analysis and allelic association of 24 Swedish families affectedby SLS showed linkage between the disease and the marker D17S805 on chromosome 17. READ MORE