Sökning: "chromosome rearrangements"

Visar resultat 6 - 10 av 54 avhandlingar innehållade orden chromosome rearrangements.

  1. 6. Cryptic chromosome abnormalities in idiopathic mental retardation

    Författare :Britt-Marie Anderlid; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Mental retardation is a common disorder, affecting 1-3% of the population. In spite of improved diagnostic tools, the etiology can still not be established in half of the cases. Several lines of evidence indicate a genetic origin in a significant number of individuals with idiopathic mental retardation. LÄS MER

  3. 7. Trisomies in Hematologic Malignancies

    Författare :Kajsa Paulsson; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Clinical genetics; Klinisk genetik; cytogenetik; Genetik; cytogenetics; Genetics; leukemia; chromosome aberration; trisomy;

    Sammanfattning : Acquired clonal chromosome aberrations, closely associated with leukemogenesis, are found in many hematologic malignancies. Although the balanced rearrangements, such as translocations and inversions, are the ones most commonly thought of in the context of leukemias, gains of chromosomes ? e.g.. LÄS MER

  4. 8. Rates and patterns of genome evolution in Lepidoptera

    Författare :Karin Näsvall; Niclas Backström; Simon Martin; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Chromosomal rearrangements; karyotype evolution; recombination rate; Lepidoptera; genome structure; molecular evolution; Biology with specialization in Evolutionary Genetics; Biologi med inriktning mot evolutionär genetik;

    Sammanfattning : The evolutionary consequences of genome restructuring and chromosomal rearrangements can be significant, but the underlying mechanisms are poorly understood. This thesis explores the relationships between genome restructuring, recombination, and maintenance of genetic diversity in different butterfly species. LÄS MER

  5. 9. Exploring the multiscale 3D architecture of human chromosome contact networks

    Författare :Dolores Bernenko; Ludvig Lizana; Martin Rosvall; Petter Holme; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; community detection; DNA 3D organization; Hi-C; network science; DNA-DNA contact data;

    Sammanfattning : Cells regulate genes to coordinate essential functions allowing cells to grow, divide, specialize, and respond to stresses. While regulatory proteins are the most common way to control these genes, the DNA’s 3D structure also plays a critical role as it affects how proteins access genes and how regulatory DNA elements interact over large genomic distances. LÄS MER

  7. 10. Studies of gene fusions and copy number alterations in salivary and adnexal neoplasms

    Författare :Marta Persson; Göteborgs universitet; []
    Nyckelord :cancer genetics; fusion oncogenes; chromosome translocation; MYB; NFIB; CRTC1; MAML2; salivary gland; breast; adenoid cystic carcinoma; mucoepidermoid carcinoma; hidradenoma;

    Sammanfattning : Cancer is a genetic disease caused by the accumulation of genetic changes such as mutations and chromosomal rearrangements. An increasing number of genetic studies of both hematological and solid neoplasms have shown that recurrent chromosome translocations often result in fusion oncogenes. LÄS MER