Sökning: "genetic polymorphisms"

Visar resultat 16 - 20 av 428 avhandlingar innehållade orden genetic polymorphisms.

1. 16. Understanding the genetic basis of complex traits

   Författare :Yanjun Zan; Örjan Carlborg; Pär Ingvarsson; Uppsala universitet; []
   Nyckelord :genetic architecture; complex traits; epistasis; multi-allelic; genotype by environment interaction; polygenic adaptation; Biology with specialization in Evolutionary Genetics; Biologi med inriktning mot evolutionär genetik;

   Sammanfattning : Recent advances in genetics and genomics have provided numerous opportunities to study the genetic basis of complex traits. Nevertheless, dissecting the genetic basis of complex traits is still challenged by the complex genetic architecture, in which many genes are involved, and many have small contributions to phenotypic variation, interactions with other genes or environmental factors. LÄS MER

3. 17. Biochemical and genetic markers after subarachnoid haemorrhage

   Författare :Ludvig Z Csajbok; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; subarachnoid haemorrhage; biochemical marker; genetic marker; outcome;

   Sammanfattning : ABSTRACT Background: Subarachnoid haemorrhage is a devastating disease with high morbidity and mortality despite novel treatment options are available. There are no established methods to measure the brain damage occurring due to the bleed and its complications and to predict early neurological outcome of the disease. LÄS MER

4. 18. 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

5. 19. 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

7. 20. A Clinical and Genetic Study of Psoriatic Arthritis

   Författare :Gerd-Marie Alenius; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Public health; Psoriatic arthritis; prevalence; inflammatory manifestations; genetic loci; HLA; TNFB; Folkhälsomedicin; Public health medicine research areas; Folkhälsomedicinska forskningsområden; Clinical Genetics; klinisk genetik;

   Sammanfattning : Psoriatic arthritis (PsA) is an inflammatory joint disease associated with psoriasis. PsA has a heterogeneous pattern, expressed by different manifestations such as mild mono-oligoarthritis or very severe, erosive and destructive polyarthritis. Measurable inflammatory activity is not always prominent. LÄS MER