Sökning: "gene deletion"

Visar resultat 1 - 5 av 387 avhandlingar innehållade orden gene deletion.

1. 1. Novel Fatty Acid Dioxygenases of Human and Plant Pathogenic Fungi : Studies by Gene Deletion and Expression

   Författare :Fredrik Jernerén; Ernst Oliw; Ivo Feussner; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; aspergilli; dioxygenase; oxygenase; Magnaporthe oryzae; Gaeumannomyces graminis; Lasiodiplodia theobromae; jasmonic acid; linoleate diol synthase; cyclooxygenase; prostaglandin H synthase; cytochrome P450; oxylipin; hydroperoxide isomerase; allene oxide synthase; Pharmaceutical pharmacology; Farmaceutisk farmakologi; Biochemical Pharmacology; Biokemisk farmakologi;

   Sammanfattning : The dioxygenase-cytochrome P450 fusion proteins (DOX-CYP) comprise a heme-containing enzyme family that shares structural and catalytic properties with mammalian prostaglandin H (PGH) synthases. 7,8-Linoleate diol synthase (7,8-LDS) of Gaeumannomyces graminis was first characterized, and DOX-CYP enzymes are of mechanistic and biological interest. LÄS MER

3. 2. Evolutionary genomics in Corvids : – From single nucleotides to structural variants

   Författare :Matthias H. Weissensteiner; Jochen B.W. Wolf; Manfred Grabherr; Kateryna M. Makova; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; evolutionary genetics; genomics; population genetics; selection; recombination; chromosomal features; colouration; insertion; deletion; inversion; crow; tandem repeat; transposable element; gene expression;

   Sammanfattning : Heritable genetic variation is the raw material of evolution and can occur in many different forms, from altering single nucleotides to rearranging stretches of millions at once. DNA mutations that result in phenotypic differences are the basis upon which natural selection can act, leading to a shift of the frequency of those mutations. LÄS MER

4. 3. Genetic Variability in Human Bone Phenotypes : The Vitamin D Receptor Gene and the Estrogen Receptor-α Cofactor RIZ Gene

   Författare :Elin Grundberg; Andreas Kindmark; Östen Ljunggren; Helena Brändström; André G. Uitterlinden; Uppsala universitet; []
   Nyckelord :Medicine; Bone mineral density; candidate gene approach; polymorphism; the vitamin D receptor; the estrogen receptor α; RIZ1; cofactor; allelic imbalance; Medicin;

   Sammanfattning : Important candidate genes to human bone phenotypes are those involved in the regulation of hormonal action, such as the vitamin D receptor (VDR) and the estrogen receptor-α (ERα) genes and their cofactors. RIZ1 is a specific ERα cofactor proved to strongly enhance the function of the ERα. LÄS MER

5. 4. Vector development for suicide gene therapy

   Författare :Alar Aints; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Suicide gene therapy; VP22; selection markers; Ouabain resistance gene; GvHD; retroviral gene transfer;

   Sammanfattning : Gene therapy is used to treat conditions that arise from errors in the genetic makeup of cells either congenital diseases resulting from a deletion or mutation in a gene or malignant diseases where genetic regulation mechanisms have been deranged. Suicide gene therapy is one of several gene therapeutic approaches to treat cancer. LÄS MER

7. 5. Detecting Deletions by Analysis of Genetic Markers in Pedigrees

   Författare :Anna Johansson; Biologiska institutionen; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; cytogenetics; Genetik; Genetics; Biologi; genetic marker; pedigree; Protein S deficiency; Biology; PROS1; deletion; null allele; cytogenetik;

   Sammanfattning : A deletion is defined as a missing piece of a chromosome, ranging in size from as small as a single base pair to as much as an entire arm of a chromosome. Deletions can cause diseases, but may also have a neutral effect in the genome. LÄS MER