Sökning: "genetic system"

Visar resultat 21 - 25 av 1051 avhandlingar innehållade orden genetic system.

  1. 21. Genetic and Epigenetic Variation in the Human Genome : Analysis of Phenotypically Normal Individuals and Patients Affected with Brain Tumors

    Författare :Cecilia De Bustos; Jan P. Dumanski; Joseph F. Costello; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; genetic variation; epigenetics; brain tumor; array-CGH; glioblastoma; ependymoma; microarray; methylation; Genetik; Genetics; Genetik;

    Sammanfattning : Genetic and epigenetic variation is a key determinant of human diversity and has an impact on disease predisposition. Single nucleotide polymorphisms (SNPs) and copy number polymorphisms (CNPs) are the main forms of genetic variation. The challenge is to distinguish normal variations from disease-associated changes. LÄS MER

  3. 22. Preproenkephalin Gene and mRNA : Studies of Structure, Function, Cocaine Responses in an Animal Model, and Genetic Association with Human Opiate Addiction

    Författare :Karl Steven LaForge; Fred Nyberg; Peter S. Eriksson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Biological research on drug dependence; Neuropeptides; Endogenous opioid system; Drug addiction; Heroin; Cocaine; Gene expression; Genetic association; Biologisk beroendeforskning; Biological research on drug dependence; Biologisk beroendeforskning;

    Sammanfattning : The endogenous opioid enkephalin neuropeptides are mediators of pain perception and have been implicated in human addictions. The preproenkephalin gene and its mRNA have also provided many examples of tissue- and species-specific variations in mRNA structure produced through a variety of transcriptional and post-transcriptional mechanisms. LÄS MER

  4. 23. Chronic Arthritis in Rats; Pathogenesis and genetic factors

    Författare :Carina Vingsbo Lundberg; Immunologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; rheumatology locomotion; muscle system; Skeleton; autoimmunity inflammation adjuvans MHC association; Skelett; muskelsystem; reumatologi;

    Sammanfattning : The immune pathology and MHC association of chronic arthritis was studied in three rat models for reumatoid arthritis (RA). Susceptible rat strains develop a T cell dependent chronic disease after immunization with rat collagen type II (CII). LÄS MER

  5. 24. Genetic Screening in Patients Suspected of Inherited Bleeding Disorders

    Författare :Marcus Fager Ferrari; Malmö Klinisk koagulationsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Bleeding; Inherited Bleeding Disorders; Platelet Dysfunction; Thrombocytopenia; Genetic Screening; High-Throughput Sequencing; STX11; STXBP2; UNC13D; FGB; COL1A1; COL3A1; COL5A1; COL5A2; GNE; Sialic Acid; Oseltamivir;

    Sammanfattning : Inherited bleeding disorders constitute a heterogeneous group of genetic diseases, affecting virtually all major components of the hemostatic system. The diagnostics are potentially complex, and a high proportion of patients remain without a conclusive diagnosis following work-up. LÄS MER

  7. 25. THE ANDROGEN RECEPTOR GGN POLYMORPHISM. Genetic and functional analyses

    Författare :Kristina Lundin; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medicine human and vertebrates ; Functional domain; Genetic predisposition; Reproductive function; Sex hormone; Transactivation function; Repeat; Polymorphism; Androgen receptor; Transcription factor; Medicin människa och djur ; Endocrinology; secreting systems; diabetology; Endokrinologi; sekretion; diabetologi;

    Sammanfattning : Male sex development and reproductive function is regulated by androgens acting via the androgen receptor (AR). The AR harbours two polymorphic repeats of CAG and GGN triplets, encoding glutamines and glycines, respectively. LÄS MER