Sökning: "fluorescence in-situ hybridization"

Visar resultat 21 - 25 av 57 avhandlingar innehållade orden fluorescence in-situ hybridization.

1. 21. Gene Expression Studies of Hematologic Malignacies

   Författare :Anna Andersson; Avdelningen för klinisk genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; extracellular fluids; Haematology; cancer; onkologi; Cytologi; oncology; Cytology; acute myeloid leukemia; acute lymphoblastic leukemia; normal hematopoietic cells; cDNA microarray; gene expression profiling; hematopoiesis; pediatric leukemia; fusion gene; Pediatrics; Pediatri; Clinical genetics; Klinisk genetik; cancerology; Hematologi; extracellulära vätskor;

   Sammanfattning : The general aim of this thesis was to characterize hematologic malignancies using gene expression profiling in order to obtain an improved classification and to study deregulated transcriptional networks in leukemia. In the first study (Article I), the gene expression profiles of hematologic cell lines were analyzed to investigate whether such cell lines maintain expression profiles that are characteristic of their primary genetic changes. LÄS MER

3. 22. Molecular studies of pancreatic cancer: Characterization of the transforming growth factor beta signaling pathway

   Författare :Tord Jonson; Avdelningen för klinisk genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; SMAD4; PCR; FISH; cytogenetics; chromosome; pancreatic cancer; TGFB signaling; cytogenetik; Genetik; Genetics;

   Sammanfattning : In the present thesis, genetic abnormalities in pancreatic cancer were studied, with special emphasis on alterations of components involved in the transforming growth factor beta (TGFB) signaling pathway. In the first study, fluorescence in situ hybridization and cytogenetic analyses revealed aberrations of chromosome 18 in all 13 pancreatic carcinoma cell lines studied, in particular frequent breaks close to the centromere of chromosome arm 18q. LÄS MER

4. 23. 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

5. 24. Turner syndrome. Relation between genotype and phenotype and long-term follow-up studies

   Författare :Mohamed Mostafa El-Mansoury; Göteborgs universitet; []
   Nyckelord :Turner syndrome; chromosome; cardiovascular disease; body balance; fracture; hearing; hypothyroidism; liver;

   Sammanfattning : Turner syndrome (TS) is a chromosomal disorder with a prevalence of approximately 1/2 500 live female births. There is complete or partial absence of one of the two sex chromosomes, resulting in a genetic constellation of 45,X monosomy or 45,X/46,XX mosaic, respectively. LÄS MER

7. 25. Microfluidics and AI for single-cell microbiology

   Författare :Praneeth Karempudi; Johan Elf; Yoav Shechtman; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Microfluidics; Artificial intelligence; Deep learning; Single-cell microbiology; Biology with specialization in Molecular Biotechnology; Biologi med inriktning mot molekylär bioteknik;

   Sammanfattning : Most of the biological sciences deal with understanding the relationships between phenotypes and the underlying molecular mechanisms of organisms. This thesis is an engineering, computational, and experimental exercise in expanding the scope and scale of phenotype-genotype mapping techniques in single-cell microbiology using microscopy, microfluidics, and image processing. LÄS MER