Sökning: "mutagenesis human phenotype"

Visar resultat 1 - 5 av 6 avhandlingar innehållade orden mutagenesis human phenotype.

1. 1. Mutational analysis of melanocortin receptors 1 and 5

   Författare :Per-Anders Frändberg; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pharmaceutical biosciences; Melanocortin receptor; melanocortin peptide; MSH; NDP-MSH; mutagenesis human phenotype; Farmaceutisk biovetenskap; Biopharmacy; Biofarmaci; galenisk farmaci; Pharmaceutics;

   Sammanfattning : The melanocortin receptor family includes five subtypes, named MC1R to MC5R. Melanocortin receptors are predominantly coupled to second messenger pathway of cyclic AMP through coupling to G-protein. This study is focused on structure-function relationship of MC1R and MC5R. LÄS MER

3. 2. Human cytomegalovirus : development of resistance to antiviral drugs and mechanisms of NK-cell evasion

   Författare :Mehrdad Mousavi-Jazi; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Human cytomegalovirus (HCMV), a member of the herpesviridae, is ubiquitous and causes persistent infections mostly without any clinical symptoms. However, HCMV infection is a major cause of morbidity and mortality among immunocompromised patients, especially transplant recipients and patients with AIDS. LÄS MER

4. 3. From gene therapy to somatic mutagenesis : insights into the common Hutchinson-Gilford progeria syndrome mutation

   Författare :Daniel Whisenant; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Mutations of the human genome can cause a large variety of genetic diseases, such as the Hutchinson-Gilford progeria syndrome (HGPS). The LMNA c.1824C>T point mutation amplifies a cryptic splice event within exon 11 of the LMNA gene, producing a toxic protein called progerin. LÄS MER

5. 4. Functional and structural studies on CYP21 mutants in congenital adrenal hyperplasia

   Författare :Tiina Robins; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Congenital adrenal hyperplasia; CAH; CYP21; enzyme activity; modeling; genotype phenotype relationships; structure function relationships.;

   Sammanfattning : Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders, affecting around 1/10 000 newborns worldwide. A defect in the gene encoding steroid 21-hydroxylase, CYP21, results in impaired synthesis of cortisol and in most cases also aldosterone. LÄS MER

7. 5. Studies of genetic mosaicism in rare diseases

   Författare :Sofia Frisk; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Mosaicism in human genetics refers to an individual harboring two or more genetic compositions, all derived from the same fertilized egg. Common signs of genetic mosaicism are asymmetric growth, skin aberrations or vascular malformations. LÄS MER