Sökning: "chromosome 2"

Visar resultat 1 - 5 av 407 avhandlingar innehållade orden chromosome 2.

  1. 1. Development and Application of Human Chromosome 22 Genomic Microarray : Chromosome 22-Associated Disorders Analyzed by Array-Based Comparative Genomic Hybridization

    Författare :Magdalena Benetkiewicz; Jan Dumanski; Niklas Dahl; Frank Speleman; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; DNA copy number changes; chromosome 22; genomic microarray; array-CGH; schwannoma; neurofibromatosis type 2; ovarian carcinoma; breast cancer; Wilms tumor; Genetik; Genetics; Genetik;

    Sammanfattning : The array-based form of comparative genomic hybridization (array-CGH) is a new methodology that has shown to be of significant importance. This thesis focuses on the development of array-CGH with the aim to define candidate regions/genes on chromosome 22 in a wide spectrum of cancer-related conditions. LÄS MER

  3. 2. Development and Application of Microarray-Based Comparative Genomic Hybridization : Analysis of Neurofibromatosis Type-2, Schwannomatosis and Related Tumors

    Författare :Patrick Buckley; Jan Dumanski; Olivier Delattre; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genomic microarray; Array-CGH; DNA copy number variation; Neurofibromatosis type-2; Schwannomatosis; Schwannoma; Meningioma; NF2; Chromosome 22; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : Neurofibromatosis type-2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilateral eighth cranial nerve schwannomas. However, the diagnostic criterion is complicated by the presence of a variable phenotype, with the severe form presenting with additional tumors such as peripheral schwannoma, meningioma and ependymoma. LÄS MER

  4. 3. Mosaic loss of chromosome Y : methods for detection and consequences for affected leukocytes and men

    Författare :Marcus Danielsson; Lars A. Forsberg; Ståhl Patrik; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mosaic loss of chromosome Y; mLOY; somatic mosaicism; Medicinsk genetik; Medical Genetics;

    Sammanfattning : It has been known for centuries that men live shorter lives than women, but until recently, the biological mechanisms driving this sex bias has been poorly understood. Mosaic loss of chromosome Y (mLOY) refers to chromosome Y aneuploidy, a male specific and the most common somatic mutation in human blood cells. LÄS MER

  5. 4. Genetic Variations in Type 2 Diabetes and Cardiovascular Disease: A Focus on Gene-Lifestyle Interactions and Mendelian Randomization

    Författare :George Hindy; Diabetes - kardiovaskulär sjukdom; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Type 2 diabetes; cardiovascular disease; coronary heart disease; metabolic syndrome; genetics; gene-lifestyle interactions; diet; TCF7L2; WNT signaling; chromosome 9p21; Mendelian randomization;

    Sammanfattning : Type 2 diabetes (T2D) and cardiovascular disease (CVD) are highly prevalent complex diseases that result from lifestyle and genetic factors. Gene-lifestyle interactions are also believed to contribute to the etiology of these diseases. LÄS MER

  7. 5. A Unified Multitude : Experimental Studies of Bacterial Chromosome Organization

    Författare :Eva Garmendia; Diarmaid Hughes; Linus Sandegren; John R. Roth; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; bacterial evolution; chromosome organization and structure; chromosomal inversions; EF-Tu; horizontal gene transfer; Biologi med inriktning mot mikrobiologi; Biology with specialization in Microbiology;

    Sammanfattning : Bacteria are many, old and varied; different bacterial species have been evolving for millions of years and show many disparate life-styles and types of metabolism. Nevertheless, some of the characteristics regarding how bacteria organize their chromosomes are relatively conserved, suggesting that they might be both ancient and important, and that selective pressures inhibit their modification. LÄS MER