Search for dissertations about: "inherited diseases"

Showing result 1 - 5 of 82 swedish dissertations containing the words inherited diseases.

2. 1. Protein Misfolding in Human Diseases

   Author : Karin Almstedt; Per Hammarström; Daniel Otzen; Linköpings universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Misfolding; carbonic anhydrase; prion protein; protein stability; Biochemistry; Biokemi;

   Abstract : There are several diseases well known that are due to aberrant protein folding. These types of diseases can be divided into three main categories:Loss-of-function diseasesGain-of-toxic-function diseasesInfectious misfolding diseases Most loss-of-function diseases are caused by aberrant folding of important proteins. READ MORE

4. 2. Underlying genetic mechanisms of hereditary dystrophies in retina and cornea

   Author : Jonsson Frida; Irina Golovleva; Carlo Rivolta; Umeå universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Cornea; retina; gene; mutation detection; inherited diseases; genetik; Genetics;

   Abstract : Inherited retinal and corneal dystrophies represent a group of disorders with great genetic heterogeneity. Over 250 genes are associated with retinal diseases and 16 genes are causative of corneal dystrophies. READ MORE

5. 3. Hidden patterns that matter : statistical methods for analysis of DNA and RNA data

   Author : Therese Kellgren; Patrik Rydén; Sara Sjöstedt de Luna; Rebecka Jörnsten; Umeå universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Genome; Next-generation sequence; statistics; microarrays; bacteria; antibiotic resistance; inherited diseases; Co-expression networks; centralization within subgroups;

   Abstract : Understanding how the genetic variations can affect characteristics and function of organisms can help researchers and medical doctors to detect genetic alterations that cause disease and reveal genes that causes antibiotic resistance. The opportunities and progress associated with such data come however with challenges related to statistical analysis. READ MORE

6. 4. Gene mapping and molecular characterisation of inherited diseases in man : with special reference to X linked retinoschisis, the fragile X syndrome, and the Norrbottnian type of Gaucher disease type III

   Author : Niklas Dahl; Uppsala universitet; []
   Keywords : MEDICINE; MEDICIN;

   Abstract : .... READ MORE

7. 5. Genetic Screening in Patients Suspected of Inherited Bleeding Disorders

   Author : Marcus Fager Ferrari; Malmö Klinisk koagulationsmedicin; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Bleeding; Inherited Bleeding Disorders; Platelet Dysfunction; Thrombocytopenia; Genetic Screening; High-Throughput Sequencing; STX11; STXBP2; UNC13D; FGB; COL1A1; COL3A1; COL5A1; COL5A2; GNE; Sialic Acid; Oseltamivir;

   Abstract : Inherited bleeding disorders constitute a heterogeneous group of genetic diseases, affecting virtually all major components of the hemostatic system. The diagnostics are potentially complex, and a high proportion of patients remain without a conclusive diagnosis following work-up. READ MORE