Sökning: "null mutation"

Visar resultat 1 - 5 av 28 avhandlingar innehållade orden null mutation.

1. 1. Regulation of neurotrophins and their receptors : molecular aspects and functional implications

   Författare :Tuija Salin; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :neurotrophin; nerve growth factor; brain-derived neurotrophic factor; neurotrophin-3; neurotrophin-4; glia; gliosis; neuron; tyrosine kinase receptor; transgenic; null mutation; gene; exon; intron; mRNA;

   Sammanfattning : The aim of this work was to study the regulation of neurotrophins and their receptors in a functional aspect. The studies included analysis of neuronal and glial neurotrophin gene expression, that was investigated by using molecular biological techniques. LÄS MER

3. 2. Haemophilia in Sweden – Studies on mutations and clinical implications

   Författare :Annika Mårtensson; Enheten för pediatrisk hematologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; haemophilia; factor VIII; factor IX; factor 8 gene; factor 9 gene; carriers; prenatal diagnosis; mutations; inhibitors; haplotype;

   Sammanfattning : Introduction: Haemophilia A (HA) and B (HB) are two of our most common inherited bleeding disorders and are due to a variety of gene mutations. Aims: The overall objective of the present research was to perform clinical and basic scientific studies on haemophilia in Sweden to further improve and individualise the care of haemophilia patients and their relatives. LÄS MER

4. 3. Genetic analysis of genes found on the 4th chromosome of Drosophila - emphasizing the developmental context of Pax6

   Författare :Jesper Kronhamn; Åsa Rasmuson-Lestander; Kevin Moses; Umeå universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; Pax6; twin of eyeless; headless flies; head development; eye development; eyeless; Minute; RpS3A; regulatory region; Drosophila; Genetik; Genetics; Genetik; Genetics; genetik;

   Sammanfattning : The small size and the lack of recombination set the fourth chromosome of Drosophila melanogaster apart from the other chromosomes. I have shown that the Minute gene on chromosome 4, earlier named Minute-4, encodes the ribosomal protein RpS3A. Two Pax6 genes, eyeless (ey) and twin of eyeless (toy) are also located on chromosome 4. LÄS MER

5. 4. Equine trait mapping : from disease loci to the discovery of a major gene controlling vertebrate locomotion

   Författare :Lisa Andersson; Sveriges lantbruksuniversitet; Sveriges lantbruksuniversitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES;

   Sammanfattning : Assigning function to genes is essential for a better understanding of biological systems. To date, approximately half of the genes in the vertebrate genome have known function. Domestic animals are a rich source for trait mapping and in this thesis we have mapped three distinct equine phenotypes. LÄS MER

7. 5. Functional Studies of Collagen-Binding Integrins α2β1 and α11β1 : Interplay between Integrins and Platelet-Derived Growth Factor Receptors

   Författare :Gunilla Grundström; Kristofer Rubin; Karl-Eric Magnusson; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Cell and molecular biology; Cell- och molekylärbiologi; Cell and molecular biology; Cell- och molekylärbiologi;

   Sammanfattning : Integrins are heterodimeric cell surface receptors, composed of an α- and a β-subunit, which mediate cell-extracellular matrix (ECM) interactions. Integrins mediate intracellular signals in response to extracellular stimuli, and cooperate with growth factor and other cytokine receptors. LÄS MER