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Abstracts » Biological sciences

Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis

Article Abstract:

A Swedish Epidemiological Investigation of Rheumatoid Arthritis (EIRA) and North American RA Consortium (NARAC) was conducted to compare three different definitions of interaction between the two major genetic risk factors of rheumatoid arthritis (RA)-the histocompatibility complex, class II, DR beta 1 (HLA-DRB1) shared epitope alleles and the protein tyrosine phosphatase R620W allele. The linkage disequilibrium approach indicated a gene-gene interaction in EIRA and NARAC.

Author: Klareskog, Lars, Plenge, Robert M., Kallberg, Henrik, Padyukov, Leonid, Ronnelid, Johan, Grefersen, Peter K., van der Helm-van Mil, Annette H.M., Toes, Rene E.M., Huizinga, Tom W., Alfredsson, Lars
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Analysis, Risk factors, Rheumatoid arthritis, Protein tyrosine kinase, Protein-tyrosine kinase, Histocompatibility testing

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Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance

Article Abstract:

The vector-mediated gene therapy with adeno-associated virus (AAV) is capable of inducing tolerance to introduced glucosidase (GAA) and enhancing the efficacy of enzyme replacement therapy (ERT) in cross-reacting immunologic material (CRIM)-negative patients with Pompe disease and in patients with other lysosomal storage diseases.

Author: Baodong Sun, Bird, Andrew, Young, Sarah P., Kishnani, Priya S., Y.-T. Chen, Koeberl, Dwight D.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
All Other Basic Organic Chemical Manufacturing, Industrial organic chemicals, not elsewhere classified, Glucosides, Enzymes, Immune system, Adenoviruses, Human, Human adenoviruses, Enzyme therapy, Glycogenosis, Glycogen storage diseases, Report

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Marfan syndrome: from molecules to medicine

Article Abstract:

Harry C. Dietz achieved the 2006 curt stern award address for his research on pediatric cardiology.

Author: Dietz, Harry C.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Achievements and awards, Geneticists, Pediatric cardiology, Marfan syndrome, Dietz, Harry C.

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Subjects list: Research, United States, Genetic aspects
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