Sökning: "Fusion : genetics"

Visar resultat 1 - 5 av 38 avhandlingar innehållade orden Fusion : genetics.

1. 1. Expression and Mutation Analyses of Candidate Cancer Genes In Situ

   Författare :Sara Kiflemariam; Tobias Sjöblom; Fredrik Pontén; Mef Nilbert; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cancer; in situ; in situ hybridization; padlock probes; mRNA; tyrosine kinases; tyrosine phosphatases; fusion transcripts;

   Sammanfattning : Cancers display heterogeneity in genetic profiles of the individual cancer cells and in the composition of different malignant and non-malignant cell populations. Such intra-tumor heterogeneity plays a role in treatment response and the emergence of resistance to cancer therapies. LÄS MER

3. 2. Genetic Adaptation and Speciation in Darwin’s Finches and Atlantic Herring

   Författare :Fan Han; Leif Andersson; Kjetill Sigurd Jakobsen; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Darwin s finches; Atlantic herring; Population genetics; Evolution; Ecological adaptation; Speciation; Biologi med inriktning mot zooekologi; Biology with specialization in Animal Ecology; Bioinformatics; Bioinformatik;

   Sammanfattning : Natural selection acts on existing genetic variation to drive genetic adaptation of organisms to various ecological niches. Interaction between closely related populations, through processes such as competition and hybridization, may either lead to their divergence or population fusion, which has consequences for adaptation and the formation of species. LÄS MER

4. 3. Identification and Characterization of Novel Candidate Oncogenes

   Författare :Marina Mencinger; Avdelningen för klinisk genetik; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

5. 4. Genetic Characterization of Bone and Soft Tissue Tumors

   Författare :Anna Dahlen; Avdelningen för klinisk genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Clinical genetics; Klinisk genetik; cytogenetik; Genetik; cytogenetics; mesenchymal tumor; pericytoma; Genetics; chondroma; lipoma;

   Sammanfattning : Bone and soft tissue tumors (BSTT) constitute a heterogeneous group of neoplasms of mesenchymal and neuroectodermal origin. Although many BSTT are rare, it has become clear that BSTT are characterized by recurrent acquired chromosomal aberrations, and the general aim of this thesis have been to apply molecular genetic and molecular cytogenetic techniques to further characterize recurrent breakpoints and deletions, and to search for candidate target genes. LÄS MER

7. 5. Positional Cloning of Disease Causing Genes : A Genetic Study of Obesity, Ichthyosis Prematurity Syndrome and Meniere's Disease

   Författare :Joakim Klar; Niklas Dahl; Catharina Larsson; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Positional cloning; Obesity; Ichthyosis; Meniere’s disease; RORa; PIK3C2G; Genetik; Clinical genetics; Klinisk genetik;

   Sammanfattning : Positional cloning is a method to identify genes from their position in the genome without prior knowledge about function. We used this approach to investigate the basis for three distinct genetic disorders; Obesity, Ichthyosis Prematurity Syndrome and Meniere's disease. LÄS MER