Search for dissertations about: "Chromosomal"

Showing result 1 - 5 of 445 swedish dissertations containing the word Chromosomal.

2. 1. Mechanisms and Consequences of Chromosomal Instability in Malignant tumours

   Author : Ylva Stewénius; Avdelningen för klinisk genetik; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; structural rearrangement; Ewing family tumour; Chromosomal instability; nephroblastoma; Wilms tumour; chromosomal aberration; anaphase bridge; subtelomeric FISH; breakage-fusion-bridge cycle;

   Abstract : In this thesis, telomere deficiency with subsequent anaphase bridging was found to be associated with chromosomal instability in established colorectal cancer cell lines and in Wilms tumour. In colorectal cancer cell lines, anaphase bridging was observed to generate both numerical and structural chromosomal aberrations and was also associated with the presence of multipolar mitoses. READ MORE

4. 2. Decoding the Structural Layer of Transcriptional Regulation : Computational Analyses of Chromatin and Chromosomal Aberrations

   Author : Robin Andersson; Jan Komorowski; Jan Dumanski; Claes Wadelius; Anders Krogh; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Chromatin; Nucleosome positioning; Histone modifications; Chromosomal aberrations; Transcriptional regulation; Array-CGH; Next generation sequencing; ChIP-chip; Bioinformatics; Bioinformatik; Bioinformatics; Bioinformatik;

   Abstract : Gene activity is regulated at two separate layers. Through structural and chemical properties of DNA – the primary layer of encoding – local signatures may enable, or disable, the binding of proteins or complexes of them with regulatory potential to the DNA. READ MORE

5. 3. The effect on chromosomal stability of some dietary constituents

   Author : Louise Durling; Per Eriksson; Jan Alexander; Uppsala universitet; []
   Keywords : Biology; Genotoxicity; chromosomal stability; heterocyclic amines; furan; HMF; folic acid; micronucleus test; comet assay; Biologi;

   Abstract : When food is heated, a vast number of compounds are formed. Some of these are known to be toxic. Among these are furan, HMF, PhIP, IQ, and MeIQx, the subjects of this thesis. All these compounds are known or suspected carcinogens but the detailed mechanisms behind their carcinogenicity have not yet been fully examined. READ MORE

6. 4. Molecular Characterisation of Structural Chromosomal Abnormalities Associated with Congenital Disorders

   Author : Mahmoud R. Mansouri; Niklas Dahl; Hans Van Bokhoven; Uppsala universitet; []
   Keywords : Genetics; Chromosomal abnormalities; Mental retardation; Hypospadias and anal malformation; Premature ovarian failure; Autism; Array-CGH; ZDHHC15; Genetik;

   Abstract : Chromosomal abnormalities are defined as changes in the chromosome structure and fall in one of two categories. The first category is numerical alterations while the second category consists of structural abnormalities. Structural chromosomal abnormalities do not always interrupt genes in order to cause disease. READ MORE

7. 5. Cytogenetic and molecular analysis of chromosomal rearrangements associated with neuropsychiatric disorders

   Author : Dmitry Tentler; Niels Tommerup; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mental retardation; autism; Asperger syndrome; chromosomal rearrangement; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Abstract : Genetic factors are important in the aetiology of neuropsychiatric disorders. Analysis of chromosomal abnormalities associated with these disorders may provide locus specific information for the identification of candidate genes and, subsequently, for our understanding of brain development and functioning. READ MORE