Experts and Doctors on alleles in Jena, Thuringia, Germany


Locale: Jena, Thuringia, Germany
Topic: alleles

Top Publications

  1. Seidel J, Streck S, Bellstedt K, Vianey Saban C, Pedersen C, Vockley J, et al. Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. J Inherit Metab Dis. 2003;26:37-42 pubmed
    ..To our knowledge, this case is the first description of a patient with proven SCAD deficiency presenting with recurrent emesis but without other symptoms, and emphasizes the wide clinical phenotype of this disorder. ..
  2. El Adawy H, Hotzel H, Tomaso H, Neubauer H, Taboada E, Ehricht R, et al. Detection of genetic diversity in Campylobacter jejuni isolated from a commercial turkey flock using flaA typing, MLST analysis and microarray assay. PLoS ONE. 2013;8:e51582 pubmed publisher
    ..DNA microarray-based assays had the highest discriminatory power when compared with other genotyping tools. ..
  3. Kliebenstein D, Lambrix V, Reichelt M, Gershenzon J, Mitchell Olds T. Gene duplication in the diversification of secondary metabolism: tandem 2-oxoglutarate-dependent dioxygenases control glucosinolate biosynthesis in Arabidopsis. Plant Cell. 2001;13:681-93 pubmed
    ..A third member of this gene family, AOP1, is present in at least two forms and found in all ecotypes examined. However, its catalytic role is still uncertain. ..
  4. Qu N, Schittko U, Baldwin I. Consistency of Nicotiana attenuata's herbivore- and jasmonate-induced transcriptional responses in the allotetraploid species Nicotiana quadrivalvis and Nicotiana clevelandii. Plant Physiol. 2004;135:539-48 pubmed
    ..Elicitation decreases the expression of growth-related genes in all three species. We propose that this is a valuable system to examine the modification of complex, polygenic, adaptive responses during allopolyploid speciation. ..
  5. Kaufmann K, Anfang N, Saedler H, Theissen G. Mutant analysis, protein-protein interactions and subcellular localization of the Arabidopsis B sister (ABS) protein. Mol Genet Genomics. 2005;274:103-18 pubmed
    ..Thus the evolutionary developmental genetics of B(sister) genes can probably only be understood as part of a complex and redundant gene network that may govern ovule formation in a conserved manner, which has yet to be fully explored. ..
  6. Guo F, Weih D, Meier E, Weih F. Constitutive alternative NF-kappaB signaling promotes marginal zone B-cell development but disrupts the marginal sinus and induces HEV-like structures in the spleen. Blood. 2007;110:2381-9 pubmed
    ..Thus, constitutive activation of the alternative NF-kappaB pathway favors MZ B-cell development and accumulation but leads to a disorganized spleen microarchitecture. ..
  7. Siddiqui R, Sauermann U, Altmuller J, Fritzer E, Nothnagel M, Dalibor N, et al. X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected women. Am J Hum Genet. 2009;85:228-39 pubmed publisher
    ..Elucidating the mechanisms underlying this sex-specific effect will promote the development of antiretroviral therapies with high efficacy in both sexes. ..
  8. Huang M, Abel C, Sohrabi R, Petri J, Haupt I, Cosimano J, et al. Variation of herbivore-induced volatile terpenes among Arabidopsis ecotypes depends on allelic differences and subcellular targeting of two terpene synthases, TPS02 and TPS03. Plant Physiol. 2010;153:1293-310 pubmed publisher
    ..Our studies show that both pseudogenization in the TPS family and subcellular segregation of functional TPS enzymes control the variation and plasticity of induced volatile emissions in wild plant species. ..
  9. Valkova C, Albrizio M, Röder I, Schwake M, Betto R, Rudolf R, et al. Sorting receptor Rer1 controls surface expression of muscle acetylcholine receptors by ER retention of unassembled alpha-subunits. Proc Natl Acad Sci U S A. 2011;108:621-5 pubmed publisher
    ..Our data show that Rer1 is a functionally important unique factor that controls surface expression of muscle acetylcholine receptors by localizing unassembled ?-subunits to the early secretory pathway. ..

More Information


  1. Huebner A, Gandía M, Frommolt P, Maak A, Wicklein E, Thiele H, et al. Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. Am J Hum Genet. 2011;88:621-7 pubmed publisher
    ..Because responsivity to physical force is a characteristic feature of the protein, we propose that long-term maintenance of mechanically stressed inner-ear cells critically depends on SMPX function. ..
  2. Stepanow S, Reichwald K, Huse K, Gausmann U, Nebel A, Rosenstiel P, et al. Allele-specific, age-dependent and BMI-associated DNA methylation of human MCHR1. PLoS ONE. 2011;6:e17711 pubmed publisher
    ..Conceivably, this epigenetic regulation contributes to the age- and/or population specific effects reported for MCHR1 in several human obesity studies. ..
  3. Jaradat S, Ababneh K, Jaradat S, Abbadi M, Taha A, Karasneh J, et al. Association of interleukin-10 gene promoter polymorphisms with chronic and aggressive periodontitis. Oral Dis. 2012;18:271-9 pubmed publisher
  4. Erdmann S, Freihorst D, Raudaskoski M, Schmidt Heck W, Jung E, Senftleben D, et al. Transcriptome and functional analysis of mating in the basidiomycete Schizophyllum commune. Eukaryot Cell. 2012;11:571-89 pubmed publisher
    ..In contrast, mating type locus B-dependent transcriptome changes were observed in 208 genes, with a specific impact on genes related to cell wall and membrane metabolism, stress response, and the redox status of the cell...
  5. Kirschner J, Weber D, Neuschl C, Franke A, Böttger M, Zielke L, et al. Mapping of quantitative trait loci controlling lifespan in the short-lived fish Nothobranchius furzeri--a new vertebrate model for age research. Aging Cell. 2012;11:252-61 pubmed publisher
    ..Our work provides first results on the way to identify loci controlling lifespan in N. furzeri and illustrates the potential of this vertebrate species as a genetic model for age research. ..
  6. Knabe N, Jung E, Freihorst D, Hennicke F, Horton J, Kothe E. A central role for Ras1 in morphogenesis of the basidiomycete Schizophyllum commune. Eukaryot Cell. 2013;12:941-52 pubmed publisher
    ..At the transcriptome level, specific regulation highlighting the phenotypic differences of the mutants is clearly visible. ..
  7. Zhou Z, Liu C, Li T, Bruhn C, Krueger A, Min W, et al. An essential function for the ATR-activation-domain (AAD) of TopBP1 in mouse development and cellular senescence. PLoS Genet. 2013;9:e1003702 pubmed publisher
    ..Our data suggest that, unlike the yeast models, the TopBP1-AAD is the major activator of ATR, sustaining cell proliferation and embryonic development. ..