Search for dissertations about: "chromosome 8"

Showing result 16 - 20 of 253 swedish dissertations containing the words chromosome 8.

  1. 16. Exploring the multiscale 3D architecture of human chromosome contact networks

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

    Abstract : 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. READ MORE

  2. 17. Cryptic chromosome abnormalities in idiopathic mental retardation

    Author : Britt-Marie Anderlid; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : 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. READ MORE

  3. 18. Conservation genomics in inbred Scandinavian wolves using bioinformatic methods

    Author : Linnéa Smeds; Hans Ellegren; Giorgio Bertorelle; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; conservation genomics; Canis lupus; bioinformatics; Y chromosome; admixture; genetic load; structural variation; GWAS; Biology with specialization in Evolutionary Genetics; Biologi med inriktning mot evolutionär genetik;

    Abstract : With the recent and unprecedented progress in retrieving DNA sequence information from a large number of individuals of any species, conservation genetic research has entered a new phase. Specifically, it has become possible to study how genomes of endangered species respond to reductions in population size. READ MORE

  4. 19. Chicken Genomics - Linkage and QTL mapping

    Author : Per Wahlberg; Leif Andersson; Ruedi Fries; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; chicken; quantitative genetics; linkage map; QTL mapping; recombination; long-term selection; Z chromosome; selective sweep; SNP; Genetics; Genetik;

    Abstract : This thesis presents results from genetic studies conducted in the chicken (Gallus gallus). The domestication of chicken is believed to have been initiated approximately 7,000 – 9,000 years ago in Southeast Asia. READ MORE

  5. 20. Molecular investigations on chromosome 21 in relation to Down syndrome and familial congenital hypothyroidism

    Author : Bodil Edman Ahlbom; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Abstract : Chromosomal abnormalities as well as mutations in single genes are genetic changes that can cause syndromes or inherited diseases. Down syndrome (DS), usually a consequence of trisomy 21, is a gene dosage disorder caused by an extra copy of genes on chromosome 21, but the mechanisms whereby specific genes contribute to the clinical features of DS are not known. READ MORE