Research Topics
Genomes and Genes
Species | Sabine HoffjanSummaryCountry: Germany Publications
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Detail Information
Publications
The genetics of multiple sclerosis: an update 2010Sabine Hoffjan
Department of Human Genetics, Ruhr University, Universitatsstrasse 150, 44801 Bochum, Germany
Mol Cell Probes 24:237-43. 2010....- The genetics of atopic dermatitis: recent findings and future optionsSabine Hoffjan
Department of Human Genetics, Ruhr University, Universitatsstrasse 150, 44801 Bochum, Germany
J Mol Med (Berl) 83:682-92. 2005..Candidate gene studies, on the other hand, have identified 19 genes that were shown to be associated with AD in at least one study. The results of genome-wide screens as well as candidate gene studies are evaluated here in detail... - Variation in the BDNF and NGFB genes in German atopic dermatitis patientsSabine Hoffjan
Department of Human Genetics, Ruhr University Bochum, Bochum, Germany
Mol Cell Probes 23:35-8. 2009..In this cohort, no significant association with AD was detected, refuting the hypothesis that variation in these two neurotrophin genes contributes substantially to AD... - No evidence of an association between polymorphisms in the IRAK-M gene and atopic dermatitis in a German cohortJasmin Beygo
Department of Human Genetics, Ruhr University Bochum, Bochum, Germany
Mol Cell Probes 23:16-9. 2009..Analysis of single SNPs and haplotypes did not reveal a significant association between polymorphisms in the IRAK-M gene and AD in this cohort... - Polymorphisms in genes encoding leptin, ghrelin and their receptors in German multiple sclerosis patientsLinda K Rey
Department of Human Genetics, Ruhr University Bochum, Universitatsstrasse 150, 44801 Bochum, Germany
Mol Cell Probes 25:255-9. 2011..However, a modest effect of GHSR variation cannot be ruled out and needs to be further evaluated in future studies... - Variation in genes encoding eosinophil granule proteins in atopic dermatitis patients from GermanyQumar Parwez
Department of Human Genetics, Ruhr University, Bochum, Germany
J Negat Results Biomed 7:9. 2008..We therefore genotyped selected single nucleotide polymorphisms within the ECP, EDN, EPO and MBP genes in a cohort of 361 German AD patients and 325 healthy controls... - Association of toll-interacting protein gene polymorphisms with atopic dermatitisTobias T Schimming
Department of Human Genetics, Ruhr University Bochum, Bochum, Germany
BMC Dermatol 7:3. 2007.... - Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitisFilippina Macaluso
Department of Human Genetics, Ruhr University Bochum, Bochum, Germany
Exp Dermatol 16:692-8. 2007..Investigations in other populations and functional studies are warranted to clarify contributions of NLR variation for this frequent skin disease... - Evaluation of the toll-like receptor 6 Ser249Pro polymorphism in patients with asthma, atopic dermatitis and chronic obstructive pulmonary diseaseSabine Hoffjan
Department of Human Genetics, Ruhr University Bochum, Germany
BMC Med Genet 6:34. 2005..We evaluated here the role of a coding variation, Ser249Pro, in the TLR6 gene in the pathogenesis of asthma, atopic dermatitis (AD) and chronic obstructive pulmonary disease (COPD)... - Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissectionsSabine Hoffjan
Department of Human Genetics, Ruhr University Bochum, Bochum, Germany
Eur J Hum Genet 19:520-4. 2011..Detailed clinical investigations of additional families are warranted to further explore the full range of phenotypic signs associated with the three novel mutations described here... - Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1Sabine Hoffjan
Department of Human Genetics, Ruhr University Bochum, Germany
Neuromuscul Disord 16:749-53. 2006..Thus, this family represents a remarkable phenotypic variation of XLMTM ranging from a congenital to a mild adult form... - Two common loss-of-function mutations within the filaggrin gene predispose for early onset of atopic dermatitisSusanne Stemmler
J Invest Dermatol 127:722-4. 2007 - Fine mapping and positional candidate studies on chromosome 5p13 identify multiple asthma susceptibility lociThorsten Kurz
Department of Human Genetics, University of Chicago, 920 East 58th Street, Chicago, IL 60637, USA
J Allergy Clin Immunol 118:396-402. 2006..CLINICAL IMPLICATIONS: Identifying asthma or BHR genes could lead to novel therapeutic approaches... - Viral infections, cytokine dysregulation and the origins of childhood asthma and allergic diseasesSamuel L Friedlander
Department of Medicine, Wisconsin State Laboratory of Hygiene, University of Wisconsin, Madison, WI, USA
Pediatr Infect Dis J 24:S170-6, discussion S174-5. 2005..The origins of asthma and allergic disease begin in early life for many individuals. It is vital to understand the factors and/or events leading to their development... - Gene-environment interaction effects on the development of immune responses in the 1st year of lifeSabine Hoffjan
Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
Am J Hum Genet 76:696-704. 2005.... - Are common disease susceptibility alleles the same in outbred and founder populations?Dina L Newman
Department of Human Genetics, University of Chicago, Chicago, IL, USA
Eur J Hum Genet 12:584-90. 2004..05), with five loci remaining significant after adjusting for multiple comparisons. These data indicate that this founder population is informative and offers considerable advantages for genetic studies of common complex diseases... - Genetic variation in immunoregulatory pathways and atopic phenotypes in infancySabine Hoffjan
Department of Human Genetics, University of Chicago, IL 60637, USA
J Allergy Clin Immunol 113:511-8. 2004..Although candidate gene studies have identified many potential asthma susceptibility genes in adult populations, few have studied associations with immune phenotypes in the first year that might be early clinical markers of asthma... - Effects of dog ownership and genotype on immune development and atopy in infancyJames E Gern
Department of Pediatrics, University of Wisconsin-Madison, Madison, Wis, USA
J Allergy Clin Immunol 113:307-14. 2004..These findings suggest that postnatal exposure to dogs can influence immune development in a genotype-specific fashion and thereby attenuate the development of atopy in at-risk children... - Association studies for asthma and atopic diseases: a comprehensive review of the literatureSabine Hoffjan
Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
Respir Res 4:14. 2003..These results suggest the potential for a great amount of heterogeneity underlying asthma. However, many of these studies are methodologically limited and their interpretation hampered by small sample sizes... - Novel case-control test in a founder population identifies P-selectin as an atopy-susceptibility locusCatherine Bourgain
Department of Human Genetics, University of Chicago, Chicago, IL, USA
Am J Hum Genet 73:612-26. 2003..10-6) between atopy and an amino acid polymorphism in the P-selectin gene, detected with the QLS test and also, but less significantly (P=.0014), with the transmission/disequilibrium test... - Present status on the genetic studies of asthmaSabine Hoffjan
Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
Curr Opin Immunol 14:709-17. 2002..In addition, many candidate genes have been associated with asthma phenotypes, such as the genes in the IL-4/IL-13 pathway...