Sökning: "chromosomal translocation"

Visar resultat 1 - 5 av 51 avhandlingar innehållade orden chromosomal translocation.

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

   Författare :Ylva Stewénius; Avdelningen för klinisk genetik; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

3. 2. Molecular Characterisation of Structural Chromosomal Abnormalities Associated with Congenital Disorders

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

   Sammanfattning : 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. LÄS MER

4. 3. Resolving the Genomic Complexity of Pediatric Acute Lymphoblastic Leukemia

   Författare :Yanara Marincevic-Zuniga; Ann-Christine Syvänen; Caroline Heckman; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Acute lymphoblastic leukemia ALL ; 450k array; DNA methylation; RNA-sequencing; linked-read WGS; B-other; fusion gene; chromosomal translocation; Medicinsk genetik; Medical Genetics;

   Sammanfattning : Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer in the Nordic countries. Structural chromosomal rearrangements are a hallmark of ALL and represent key markers for diagnosis, risk stratification and prognosis. LÄS MER

5. 4. Molecular studies of genetic changes in myxoid and round cell liposarcoma

   Författare :Sofia Järnum; Institutionen för experimentell medicinsk vetenskap; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cancerology; Cytologi; onkologi; cancer; Medicine human and vertebrates ; Medicin människa och djur ; oncology; Cytology; autocrine loop; RDA; persephin; RET; LEPREL1; translocation; fusion gene; liposarcoma; TLS; CHOP;

   Sammanfattning : Chromosomal translocations commonly result in the production of fusion genes and the fusion genes are often tumor-type specific. In myxoid and round cell liposarcomas (MLS/RCLS), almost 95% of the cases carry a t(12;16)(q13;p11). In the remaining 5% of the MLS/RCLS tumors, another translocation and fusion gene can be found, i.e. LÄS MER

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

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

   Sammanfattning : 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. LÄS MER