Sökning: "chromosome"
Visar resultat 11 - 15 av 802 avhandlingar innehållade ordet chromosome.
11. Chromosomal Instability and Genomic Amplification in Bone and Soft Tissue Tumours
Sammanfattning : Acquired genetic abnormalities are found in all types of malignant tumours and may contribute to neoplastic processes by altering protein structure or dosage. Many bone and soft tissue tumours (BSTT) are characterised by complex patterns of chromosome changes, including extensive intratumour heterogeneity and amplification of DNA sequences. LÄS MER
12. Genetic investigations of four neurological disorders : From phenotype to mutation
Sammanfattning : More than 5000, more or less rare, genetic diseases are known in man. A genetic disease is in most casesinherited from one generation to the next, and is caused by a change in the genetic code, a mutation. LÄS MER
13. Molecular studies of pancreatic cancer: Characterization of the transforming growth factor beta signaling pathway
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
14. Turner syndrome. Relation between genotype and phenotype and long-term follow-up studies
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
15. Identification and Characterization of Novel Candidate Oncogenes
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