Sökning: "Gene Frequency"

Visar resultat 6 - 10 av 383 avhandlingar innehållade orden Gene Frequency.

1. 6. Genetics of Parkinson's disease - with focus on genes of relevance for inflammation and dopamine neruon development

   Författare :Anna Zettergren; Göteborgs universitet; []
   Nyckelord :Parkinson s disease; genetics; inflammation; single nucleotide polymorphism; dopamine neuron development; estrogen; gene; age of onset; Pitx3; estrogen receptor beta; interleukin 6;

   Sammanfattning : Abstract GENETICS OF PARKINSON’S DISEASE - WITH FOCUS ON GENES OF RELEVANCE FOR INFLAMMATION AND DOPAMINE NEURON DEVELOPMENT Introduction: The risk to be affected by Parkinson’s disease (PD) is considered to be influenced by genetic factors. In some rare cases of familial PD, mutations in some specific genes are known to cause the disease, but in the more common sporadic form of PD the causes are probably environmental factors interacting with genetic vulnerability. LÄS MER

3. 7. Enhancing neuronal inhibition by cell and gene therapy as a novel treatment for Epilepsy

   Författare :Ana Gonzalez Ramos; Epilepsicentrum; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Epilepsy; Interneurons; GABA; Human pluripotent stem cells; Cell therapy; Gene therapy; Chemogenetics; Hippocampus; TLE; Cntnap2;

   Sammanfattning : Epilepsy is a family of heterogeneous and multifactorial neurological disorders, unified by the occurrence of spontaneous recurrent seizures. Overall, it affects 50 million people worldwide of all ages and genders. LÄS MER

4. 8. Defining human adaptive immune gene diversity

   Författare :Sanjana Narang; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : The lymphocytes (B and T cells) of the adaptive immune system undergo variable (V), diversity (D), and junctional (J) gene recombination, resulting in highly diverse antigen receptor repertoires capable of recognizing a wide variety of invading pathogens. The B cell receptor (BCR) contains two identical heavy and light chains. LÄS MER

5. 9. Advancing gene therapy for epilepsy. Translational pre-clinical studies with neuropeptide Y and glial cell-line derived neurotrophic factor

   Författare :Esbjörn Melin; Epilepsicentrum; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Epilepsy; Gene Therapy; neuropeptide Y NPY ; Y2 receptor; GDNF; Encapsulated cell biodelivery; seizure; In-vivo;

   Sammanfattning : Epilepsy is a neurological disorder, affecting approximately 1% of the population. The high rate of drug-resistance in epilepsy in general (30%), and temporal lobe epilepsy (TLE) in particular, pose a serious clinical problem. Thus, novel treatments for drug-resistant epilepsy is highly warranted. LÄS MER

7. 10. Haemophilia in Sweden – Studies on mutations and clinical implications

   Författare :Annika Mårtensson; Enheten för pediatrisk hematologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; haemophilia; factor VIII; factor IX; factor 8 gene; factor 9 gene; carriers; prenatal diagnosis; mutations; inhibitors; haplotype;

   Sammanfattning : Introduction: Haemophilia A (HA) and B (HB) are two of our most common inherited bleeding disorders and are due to a variety of gene mutations. Aims: The overall objective of the present research was to perform clinical and basic scientific studies on haemophilia in Sweden to further improve and individualise the care of haemophilia patients and their relatives. LÄS MER