Search for dissertations about: "identification candidate gene"

Showing result 1 - 5 of 128 swedish dissertations containing the words identification candidate gene.

2. 1. Identification of Candidate Genes in Four Human Disorders

   Author : Malin Melin; Niklas Dahl; Anders Isaksson; Juha Kere; Uppsala universitet; []
   Keywords : Genetics; Ichthyosis; Leukodystrophy; Kostmann disease; Autism; Genetic disorders; Candidate gene; Genetik;

   Abstract : The aim of this thesis has been to identify genes and gene regions underlying four different disorders. In papers I-IV, positional cloning methods, such as linkage, association and haplotype analysis have been used for the identification of genomic regions associated with the ichthyosis prematurity syndrome (IPS), adult-onset autosomal dominant leukodystrophy (ADLD) and Kostmann disease. READ MORE

4. 2. Identification and characterization of candidate genes for neuroblastoma development

   Author : Cecilia Krona; Göteborgs universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; cancer; tumor; child; embryonal; neural crest; neuroblastoma; chromosome 1; 1p36; mutation; expression; tumor suppressor gene; UBE4B; KIF1B; PGD; CORT; DFFA; PEX14; ICAT; CASP9; ENO1; MBP1; APITD1; PHOX2B;

   Abstract : Neuroblastoma (NB) is the most common tumor during infancy. It arises from undifferentiated cells in the sympathetic nervous system and is characterized by both clinical and genetic heterogeneity. One of the features of NBs with unfavorable outcome is loss on distal chromosome 1p. READ MORE

5. 3. Identification and Characterization of Novel Candidate Oncogenes

   Author : Marina Mencinger; Avdelningen för klinisk genetik; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Klinisk genetik; Clinical genetics; RBP56; APRIL; TFG; FUS; EWS; EST database; fusion genes; chromosome; molecular genetics; cancer; Cytology; oncology; cancerology; Cytologi; onkologi;

   Abstract : Using computer-assisted sequence homology searches we identified three genes encoding proteins similar to certain fusion partner proteins in cancer. The novel APRIL gene was localized to 15q25 and encodes a protein, containing an acidic amino-acid region similar to that/those of leukemia-associated fusion partner proteins DEK and SET. READ MORE

6. 4. Gene Expression Patterns in a Rat Model of Human Endometrial Adenocarcinoma

   Author : Sandra Karlsson; Göteborgs universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; rat; complex disease; Endometrial adenocarcinoma; gene expression profiling; cDNA microarrays; candidate genes; Molecular biology; Medical sciences;

   Abstract : Endometrial cancer develops from the endometrium of the uterus and is the most common pelvic malignancy diagnosed in women in the western society. Similar to all cancer diseases, endometrial cancer is a disorder that results from complex patterns of genetic and epigenetic alterations involved in the malignant transformation. READ MORE

7. 5. Computational Modelling of Gene Regulation in Cancer : Coding the noncoding genome

   Author : Husen Muhammad Umer; Jan Komorowski; Claes Wadelius; Jan Korbel; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Regulatory elements; gene regulation; cancer; motif; integrative database; software solutions for cancer data; Bioinformatics; Bioinformatik;

   Abstract : Technological advancements have enabled quantification of processes within and around us. The information stored within our body converts into petabytes of data. Processing and learning from such data requires comprehensive computational programs and software systems. READ MORE