Sökning: "Genetisk Association"

Visar resultat 1 - 5 av 50 avhandlingar innehållade orden Genetisk Association.

  1. 1. Dissecting the Genetic Basis of Systemic Lupus Erythematosus : The Pursuit of Functional Variants

    Författare :Angélica María Delgado Vega; Ulf Gyllensten; Marta E. Alarcon-Riquelme; Jane Worthington; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Systemic Lupus Erythematosus; SLE; Genetic Mapping; Association Studies; Functional Variants; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Systemisk Lupus Erythematosus; SLE; Genetik; Genetisk Association; Funktionella Varianter; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Lupus Eritematoso Sistémico; LES; Estudios de Asociación Genética; Variantes Funcionales; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Medical Genetics; Medicinsk genetik; Medical Science; Medicinsk vetenskap;

    Sammanfattning : Systemic lupus erythematosus (SLE) is a chronic and systemic autoimmune disease that primarily affects women during the childbearing years. SLE is characterized by the production of autoantibodies against nucleic acids and their interacting proteins. LÄS MER

  2. 2. Neuronal Networks of Movement : Slc10a4 as a Modulator & Dmrt3 as a Gait-keeper

    Författare :Martin Larhammar; Klas Kullander; Leif Andersson; Åsa Wallén-Mackenzie; Robert Fyffe; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Synaptic vesicle transporter; Neuromodulation; Dopamine; Central Pattern Generator; Locomotion; Gait; Horse; Mouse; Commissural Inhibitory Interneuron; Neuroscience; Neurovetenskap;

    Sammanfattning : Nerve cells are organized into complex networks that comprise the building blocks of our nervous system. Neurons communicate by transmitting messenger molecules released from synaptic vesicles. Alterations in neuronal circuitry and synaptic signaling contribute to a wide range of neurological conditions, often with consequences for movement. LÄS MER

  3. 3. Hereditary risk factors for stroke in humans - Association studies with emphasis on familial and genotypic factors

    Författare :Håkan Lövkvist; Lund Neurologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; allelic association; candidate genes; case-control; family history; ischemic stroke; polymorphisms.;

    Sammanfattning : Background Stroke is a serious vascular disorder that comprises intracerebral hemorrhages, subarachnoid hemorrhages and ischemic stroke (IS). The etiology of stroke, including hereditary components induced by cellular mechanisms, is therefore a research field of vital importance. LÄS MER

  4. 4. Genetic variants and the risk of type 2 diabetes

    Författare :Anna Jonsson; diabetes och endokrinologi Genomik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; insulin secretion; Type 2 diabetes; genome-wide association studies; genetic association;

    Sammanfattning : Type 2 diabetes is rapidly increasing worldwide thereby posing a severe burden on individual and public health. Although this increase can be ascribed to both genetic and environmental factors, until 2007, the genetic factors have been largely restricted to a few candidate genes based upon our limited knowledge of the pathogenesis of the disease. LÄS MER

  5. 5. Fuchs’ endothelial corneal dystrophy : Genetic aetiology and as a risk factor in cataract surgery

    Författare :Andreas Viberg; Berit Byström; Irina Golovleva; Patrik Danielson; Madeleine Zetterberg; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Fuchs’ endothelial corneal dystrophy; genetics; TCF4; trinucleotide repeat disorder; registry-based study; cataract surgery; outcome; PROM; corneal transplantation; dense cataract; posterior capsule rupture; oftalmiatrik; ophthalmology; Clinical Genetics; klinisk genetik;

    Sammanfattning : Fuchs’ endothelial corneal dystrophy (FECD) is a bilateral, often hereditary degenerative corneal disease, in which the disrupted endothelial cell function causes corneal swelling and reduced vision. An early clinical sign of FECD is corneal guttata, an irregularity of the endothelial layer. LÄS MER