Sökning: "disease gene"

Visar resultat 1 - 5 av 2161 avhandlingar innehållade orden disease gene.

1. 1. Functional association networks for disease gene prediction

   Författare :Dimitri Guala; Erik L L Sonnhammer; Hjalmar Brismar; Yves Moreau; Stockholms universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; network biology; biological networks; network prediction; functional association; functional coupling; network integration; functional association networks; genome-wide association networks; gene networks; protein networks; fret; functional enrichment analysis; network cross-talk; pathway annotation; gene prioritisation; network-based gene prioritization; benchmarking; Biochemistry towards Bioinformatics; biokemi med inriktning mot bioinformatik;

   Sammanfattning : Mapping of the human genome has been instrumental in understanding diseasescaused by changes in single genes. However, disease mechanisms involvingmultiple genes have proven to be much more elusive. Their complexityemerges from interactions of intracellular molecules and makes them immuneto the traditional reductionist approach. LÄS MER

3. 2. Polyglandular Autoimmune (PGA) Syndromes and associations to sarcoidosis

   Författare :Konstantinos I Papadopoulos; Malmö Institutionen för kliniska vetenskaper; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; angiotensin converting enzyme ACE ; DQB1; DRB1; HLA; H K ATPase; antigliadin; autoantibodies; pernicious anaemia; coeliac disease; sarcoidosis; Hashimoto thyroiditis; Graves disease; autoimmune thyroid disease; Addison s disease; Polyglandular autoimmune PGA syndromes; autoimmunity; ACE gene polymorphism; Immunology; serology; transplantation; Immunologi; serologi;

   Sammanfattning : Polyglandular Autoimmune (PGA) syndrome type II in idiopathic Addison's disease: In a retrospective study of idiopathic Ad-dison's disease (median age at diagnosis 32.5 years, range 8-62; median observation time 17 years, range 0.5-41), 50% met the criteria for PGA syndrome type II. In PGA syndrome type II, 73% had ATD and 41% had IDDM. LÄS MER

4. 3. CRISPR/Cas9-based therapies and the role of astrocytes in Alzheimer’s disease and Parkinson’s disease

   Författare :Evangelos Konstantinidis; Martin Ingelsson; Anna Erlandsson; Vilmantas Giedraitis; Magnus Essand; Harald Steiner; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Alzheimer s disease; Parkinson s disease; gene editing; CRISPR Cas9; amyloid-beta; astrocytes; neurons; iPSCs; electrophysiology;

   Sammanfattning : Alzheimer’s disease (AD) and Parkinson’s disease (PD) are the two most common neurodegenerative disorders. Whereas the AD brain features plaques of amyloid-beta (Aβ) and neurofibrillary tangles of tau, the PD brain is characterized by Lewy bodies and Lewy neurites containing α-synuclein (αSyn). LÄS MER

5. 4. Precision mapping of gene expression and proteins in the brain using gene editing and barcoded viral vectors

   Författare :Martino Avallone; Molekylär neuromodulering; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Gene editing; CRISPR Cas9; Barcodes; AAV; PLA; gene therapy; Parkinson’s disease; single nuclei RNAseq; alpha-synuclein;

   Sammanfattning : The human brain is a masterpiece of intricate design and impeccable functionality. It serves as the ultimate command center for our thoughts, sensations, and actions, which define our very existence. LÄS MER

7. 5. Gene Therapy for Neurological Disorders

   Författare :Jan Tönnesen; Lund Neurologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; epileptiform activity; striatum; organotypic culture; electrophysiology; Wnt5a; synaptic connectivity.; cell transplantation; hippocampus; neural stem cells; epilepsy; functional integration; Parkinson’s disease; optogenetics; Gene therapy;

   Sammanfattning : Gene therapy is an attractive strategy for neurological disorders, such as Parkinson’s disease and epilepsy, for several reasons. Introduction of genes with a therapeutic potential can be achieved locally, by accurate injections in the compromised tissue, and release of a transgene therapeutic substance can be regulated by the surrounding host neural circuitry. LÄS MER