@article{HarrisonClausJiangetal.2013,
  author    = {Harrison, Odile B. and Claus, Heike and Jiang, Ying and Bennett, Julia S. and Bratcher, Holly B. and Jolley, Keith A. and Corton, Craig and Care, Rory and Poolman, Jan T. and Zollinger, Wendell D. and Frasch, Carl E. and Stephens, David S. and Feavers, Ian and Frosch, Matthias and Parkhill, Julian and Vogel, Ulrich and Quail, Michael A. and Bentley, Stephen D. and Maiden, Martin C. J.},
  title     = {Description and Nomenclature of Neisseria meningitidis Capsule Locus},
  series = {Emerging Infectious Diseases},
  volume    = {19},
  journal   = {Emerging Infectious Diseases},
  number    = {4},
  doi       = {10.3201/eid1904.111799},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-131703},
  pages     = {566-573},
  year      = {2013},
  abstract  = {Pathogenic Neisseria meningitidis isolates contain a polysaccharide capsule that is the main virulence determinant for this bacterium. Thirteen capsular polysaccharides have been described, and nuclear magnetic resonance spectroscopy has enabled determination of the structure of capsular polysaccharides responsible for serogroup specificity. Molecular mechanisms involved in N. meningitidis capsule biosynthesis have also been identified, and genes involved in this process and in cell surface translocation are clustered at a single chromosomal locus termed cps. The use of multiple names for some of the genes involved in capsule synthesis, combined with the need for rapid diagnosis of serogroups commonly associated with invasive meningococcal disease, prompted a requirement for a consistent approach to the nomenclature of capsule genes. In this report, a comprehensive description of all N. meningitidis serogroups is provided, along with a proposed nomenclature, which was presented at the 2012 XVIIIth International Pathogenic Neisseria Conference.},
  language  = {en}
}
@article{DoerhoeferLammertKraneetal.2013,
  author    = {D{\"o}rh{\"o}fer, Lena and Lammert, Alexander and Krane, Vera and Gorski, Mathias and Banas, Bernhard and Wanner, Christoph and Kr{\"a}mer, Bernhard K. and Heid, Iris M. and B{\"o}ger, Carsten A.},
  title     = {Study design of DIACORE (DIAbetes COhoRtE) - a cohort study of patients with diabetes mellitus type 2},
  series = {BMC Medical Genetics},
  volume    = {14},
  journal   = {BMC Medical Genetics},
  number    = {25},
  issn      = {1471-2350},
  doi       = {10.1186/1471-2350-14-25},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-122040},
  year      = {2013},
  abstract  = {Background: Diabetes mellitus type 2 (DM2) is highly associated with increased risk for chronic kidney disease (CKD), end stage renal disease (ESRD) and cardiovascular morbidity. Epidemiological and genetic studies generate hypotheses for innovative strategies in DM2 management by unravelling novel mechanisms of diabetes complications, which is essential for future intervention trials. We have thus initiated the DIAbetes COhoRtE study (DIACORE). Methods: DIACORE is a prospective cohort study aiming to recruit 6000 patients of self-reported Caucasian ethnicity with prevalent DM2 for at least 10 years of follow-up. Study visits are performed in University-based recruiting clinics in Germany using standard operating procedures. All prevalent DM2 patients in outpatient clinics surrounding the recruiting centers are invited to participate. At baseline and at each 2-year follow-up examination, patients are subjected to a core phenotyping protocol. This includes a standardized online questionnaire and physical examination to determine incident micro-and macrovascular DM2 complications, malignancy and hospitalization, with a primary focus on renal events. Confirmatory outcome information is requested from patient records. Blood samples are obtained for a centrally analyzed standard laboratory panel and for biobanking of aliquots of serum, plasma, urine, mRNA and DNA for future scientific use. A subset of the cohort is subjected to extended phenotyping, e. g. sleep apnea screening, skin autofluorescence measurement, non-mydriatic retinal photography and non-invasive determination of arterial stiffness. Discussion: DIACORE will enable the prospective evaluation of factors involved in DM2 complication pathogenesis using high-throughput technologies in biosamples and genetic epidemiological studies.},
  language  = {en}
}
@article{BremGruenblattDrechsleretal.2014,
  author    = {Brem, Silvia and Gr{\"u}nblatt, Edna and Drechsler, Renate and Riederer, Peter and Walitza, Susanne},
  title     = {The neurobiological link between OCD and ADHD},
  series = {Attention Deficit and Hyperactivity Disorders},
  volume    = {6},
  journal   = {Attention Deficit and Hyperactivity Disorders},
  number    = {3},
  doi       = {10.1007/s12402-014-0146-x},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-121312},
  pages     = {175-202},
  year      = {2014},
  abstract  = {Obsessive compulsive disorder (OCD) and attention deficit hyperactivity disorder (ADHD) are two of the most common neuropsychiatric diseases in paediatric populations. The high comorbidity of ADHD and OCD with each other, especially of ADHD in paediatric OCD, is well described. OCD and ADHD often follow a chronic course with persistent rates of at least 40-50 \%. Family studies showed high heritability in ADHD and OCD, and some genetic findings showed similar variants for both disorders of the same pathogenetic mechanisms, whereas other genetic findings may differentiate between ADHD and OCD. Neuropsychological and neuroimaging studies suggest that partly similar executive functions are affected in both disorders. The deficits in the corresponding brain networks may be responsible for the perseverative, compulsive symptoms in OCD but also for the disinhibited and impulsive symptoms characterizing ADHD. This article reviews the current literature of neuroimaging, neurochemical circuitry, neuropsychological and genetic findings considering similarities as well as differences between OCD and ADHD.},
  language  = {en}
}
@article{BoelchJansenMeffertetal.2015,
  author    = {Boelch, S. P. and Jansen, H. and Meffert, R. H. and Frey, S. P.},
  title     = {Six Sesamoid Bones on Both Feet: Report of a Rare Case},
  series = {Journal of Clinical and Diagnostic Research},
  volume    = {9},
  journal   = {Journal of Clinical and Diagnostic Research},
  number    = {8},
  doi       = {10.7860/JCDR/2015/12842.6394},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-126073},
  pages     = {RD04-RD05},
  year      = {2015},
  abstract  = {There is a variation of the total number of distinct bones in the human in the literature. This difference is mainly caused by the variable existence of sesamoid bones. Sesamoid bones at the first MTP are seen regularly. In contrast additional sesamoid bones at the divond to fifth MTP are rare. We report a case of additional sesamoid bones at every metatarsophalangeal joint (MTP) of both feet. A 22-year-old female Caucasian presented with weight-dependent pain of the divond MTP of the left foot. In the radiographs of both feet additional sesamoid bones at every MTP could be seen. This case reports a very rare variation in human anatomy. A similar case has not been displayed to the academic society and therefore should be acknowledged.},
  language  = {en}
}
@article{MergetKoetschanHackletal.2012,
  author    = {Merget, Benjamin and Koetschan, Christian and Hackl, Thomas and F{\"o}rster, Frank and Dandekar, Thomas and M{\"u}ller, Tobias and Schultz, J{\"o}rg and Wolf, Matthias},
  title     = {The ITS2 Database},
  series = {Journal of Visual Expression},
  volume    = {61},
  journal   = {Journal of Visual Expression},
  number    = {e3806},
  doi       = {10.3791/3806},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-124600},
  year      = {2012},
  abstract  = {The internal transcribed spacer 2 (ITS2) has been used as a phylogenetic marker for more than two decades. As ITS2 research mainly focused on the very variable ITS2 sequence, it confined this marker to low-level phylogenetics only. However, the combination of the ITS2 sequence and its highly conserved secondary structure improves the phylogenetic resolution1 and allows phylogenetic inference at multiple taxonomic ranks, including species delimitation. The ITS2 Database presents an exhaustive dataset of internal transcribed spacer 2 sequences from NCBI GenBank accurately reannotated. Following an annotation by profile Hidden Markov Models (HMMs), the secondary structure of each sequence is predicted. First, it is tested whether a minimum energy based fold (direct fold) results in a correct, four helix conformation. If this is not the case, the structure is predicted by homology modeling. In homology modeling, an already known secondary structure is transferred to another ITS2 sequence, whose secondary structure was not able to fold correctly in a direct fold. The ITS2 Database is not only a database for storage and retrieval of ITS2 sequence-structures. It also provides several tools to process your own ITS2 sequences, including annotation, structural prediction, motif detection and BLAST search on the combined sequence-structure information. Moreover, it integrates trimmed versions of 4SALE and ProfDistS for multiple sequence-structure alignment calculation and Neighbor Joining tree reconstruction. Together they form a coherent analysis pipeline from an initial set of sequences to a phylogeny based on sequence and secondary structure. In a nutshell, this workbench simplifies first phylogenetic analyses to only a few mouse-clicks, while additionally providing tools and data for comprehensive large-scale analyses.},
  language  = {en}
}
@phdthesis{GlotzbachSchoon2013,
  author    = {Glotzbach-Schoon, Evelyn},
  title     = {Contextual fear conditioning in humans: The return of contextual anxiety and the influence of genetic polymorphisms},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-87955},
  school      = {Universit{\"a}t W{\"u}rzburg},
  year      = {2013},
  abstract  = {Als Angst bezeichnet man einen nicht auf spezifische Objekte gerichteten l{\"a}nger anhaltenden zukunfts-orientierten Zustand der Besorgnis. Diese ist kennzeichnend f{\"u}r Angstst{\"o}rungen wie Panikst{\"o}rung, generalisierte Angstst{\"o}rung und Posttraumatische Belastungsst{\"o}rung (PTBS). Experimentell kann Angst durch kontextuelle Furchtkonditionierung ausgel{\"o}st werden. Bei dieser Art der Konditionierung werden aversive Ereignisse als unvorhersehbar erlebt, wodurch der gesamte Kontext mit der Gefahr assoziiert wird. Diese Arbeit hat zum Ziel, Mechanismen der Entstehung und Aufrechterhaltung von Kontextangst zu untersuchen. Dies sind zum einem erleichterte Akquisition von Kontextkonditionierungen und deren fehlerhafte Extinktion. Hier ist vor allem die Fragestellung relevant, wie dies durch genetische Varianten moduliert wird (Studie 1). Zum anderen soll die Wiederkehr der Angst nach der Extinktion mit einem neuen Reinstatement-Paradigma untersucht werden (Studie 2). Zur Untersuchung dieser Forschungsfragen wurden zwei kontextuelle Furchtkonditionierungsstudien in virtueller Realit{\"a}t (VR) durchgef{\"u}hrt. W{\"a}hrend der Akquisition wurden leicht schmerzhafte elektrische Reize (unkonditionierter Stimulus, US) unvorhersehbar pr{\"a}sentiert, w{\"a}hrend die Probanden in einem virtuellen B{\"u}roraum waren. Dadurch wurde dieser Raum zum Angstkontext (CXT+). Ein zweiter B{\"u}roraum wurde nie mit dem US gepaart, deshalb wurde dieser Raum zum Sicherheitskontext (CXT-). Die Extinktion, in der die Kontexte ohne US pr{\"a}sentiert wurden, fand 24 h sp{\"a}ter statt, und ein Test zum Abruf der Extinktion bzw. zur Wiederkehr der Angst nochmals 24 h sp{\"a}ter. In beiden Studien wurde die Angst auf drei verschiedenen Ebenen gemessen: Verhalten (angstpotenzierter Schreckreflex), Physiologie (tonische Hautleitf{\"a}higkeit), und verbale Ebene (explizite Ratings). Die Probanden f{\"u}r Studie 1 wurden anhand der 5-HTTLPR (S+ Risikoallel vs. LL nicht-Risikoallel) und NPSR1 rs324981 (T+ Risikoallel vs. AA nicht-Risikoallel) Polymorphismen stratifiziert, sodass vier kombinierte Genotyp Gruppen (S+/T+, S+/LL, LL/T+ und LL/AA) mit je 20 Probanden vorlagen. Es zeigte sich, dass der angstpotenzierte Schreckreflex durch die Interaktion zwischen beiden genetischen Polymorphismen moduliert wurde. Nur Tr{\"a}ger beider Risikoallele (S+ Tr{\"a}ger des 5-HTTLPR und T+ Tr{\"a}ger des NPSR1 Polymorphismus) zeigten einen h{\"o}heren Schreckreflex im CXT+ als im CXT- w{\"a}hrend der Akquisition. Der Abruf der Extinktion an Tag 3, gemessen anhand des Schreckreflexes, wurde allerdings nicht durch die Genotypen moduliert. Interessanterweise zeigte sich auf dem expliziten Angstlevel (Valenz- und Angstratings) nur ein Einfluss des NPSR1 Polymorphismus, und zwar bewerteten die nicht-Risikoallel Tr{\"a}ger (AA) den CXT+ mit negativerer Valenz und h{\"o}herer Angst im Vergleich zum CXT-; die Risikoallel Tr{\"a}ger (T+) taten dies nicht. In der zweiten Studie wurde fast das gleiche Paradigma benutzt wie in der ersten Studie mit der Ausnahme, dass eine Versuchsgruppe (Reinstatementgruppe) den US noch einmal am Anfang des dritten Untersuchungstages vor der Pr{\"a}sentation von CXT+ und CXT- appliziert bekam. Die zweite Versuchsgruppe (Kontrollgruppe) erhielt keinen US, sondern wurde direkt durch CXT+ und CXT- gef{\"u}hrt. Es zeigte sich, dass nur in der Reinstatementgruppe die Angst auf impliziter und expliziter Ebene wiederkehrte, d.h. die Probanden zeigten einen h{\"o}heren Schreckreflex und h{\"o}here Angstratings auf den CXT+ im Vergleich zum CXT-. Wichtig war vor allem, dass die Wiederkehr der Angst in der Reinstatementgruppe mit der Ver{\"a}nderung der Zustandsangst und der Stimmung (von der Extinktion zum Test) korrelierte. D.h. je gr{\"o}ßer die Angst und je negativer die Stimmung wurden, desto h{\"o}her war die Wiederkehr der Angst. Zusammengefasst belegt Studie 1, dass erleichterte kontextuelle Furchtkonditionierung auf impliziter Ebene (Schreckreflex) ein Endoph{\"a}notyp f{\"u}r Angstst{\"o}rungen sein k{\"o}nnte, was zu unserem Verst{\"a}ndnis der {\"A}tiologie von Angstst{\"o}rungen beitragen k{\"o}nnte. Die Ergebnisse der zweiten Studie legen nahe, dass eine {\"a}ngstliche und negative Stimmung nach der Extinktion die R{\"u}ckkehr von Angst beg{\"u}nstigen k{\"o}nnte. Dar{\"u}ber hinaus scheint das VR-basierte kontextuelle Furchtkonditionierungsparadigma ein geeignetes Mittel zu sein, um Mechanismen der Angstentstehung und Angstwiederkehr experimentell zu erforschen. Weiterf{\"u}hrende Studien k{\"o}nnten nun auch Angstpatienten untersuchen und das Paradigma auf evolution{\"a}r-relevante Kontexte (z.B. H{\"o}he, Dunkelheit, weite Pl{\"a}tze) ausweiten.},
  subject      = {Angst},
  language  = {en}
}
@phdthesis{Weissflog2011,
  author    = {Weißflog, Lena},
  title     = {Molecular Genetics of Emotional Dysregulation in Attention-Deficit/Hyperactivity Disorder},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-69345},
  school      = {Universit{\"a}t W{\"u}rzburg},
  year      = {2011},
  abstract  = {Attention-deficit/hyperactivity disorder (ADHD) is a genetically complex childhood onset neurodevelopmental disorder which is highly persistent into adulthood. Several chromo-somal regions associated with this disorder were identified previously in genome-wide linkage scans, association (GWA) and copy number variation (CNV) studies. In this work the results of case-control and family-based association studies using a can-didate gene approach are presented. For this purpose, possible candidate genes for ADHD have been finemapped using mass array-based SNP genotyping. The genes KCNIP4, CDH13 and DIRAS2 have been found to be associated with ADHD and, in addition, with cluster B and cluster C personality disorders (PD) which are known to be related to ADHD. Most of the associations found in this work would not withstand correction for multiple testing. However, a replication in several independent populations has been achieved and in conjunction with previous evidence from linkage, GWA and CNV studies, it is assumed that there are true associations between those genes and ADHD. Further investigation of DIRAS2 by quantitative real-time PCR (qPCR) revealed expression in the hippocampus, cerebral cortex and cerebellum of the human brain and a significant increase in Diras2 expression in the mouse brain during early development. In situ hybrid-izations on murine brain slices confirmed the results gained by qPCR in the human brain. Moreover, Diras2 is expressed in the basolateral amygdala, structures of the olfactory system and several other brain regions which have been implicated in the psychopatholo-gy of ADHD. In conclusion, the results of this work provide further support to the existence of a strong genetic component in the pathophysiology of ADHD and related disorders. KCNIP4, CDH13 and DIRAS2 are promising candidates and need to be further examined to get more knowledge about the neurobiological basis of this common disease. This knowledge is essential for understanding the molecular mechanisms underlying the emergence of this disorder and for the development of new treatment strategies.},
  subject      = {Aufmerksamkeits-Defizit-Syndrom},
  language  = {en}
}
@article{PoethkePfenningHovestadt2007,
  author    = {Poethke, Hans J. and Pfenning, Brenda and Hovestadt, Thomas},
  title     = {The relative contribution of individual and kin selection to the evolution of density-dependent dispersal rates},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-48225},
  year      = {2007},
  abstract  = {Questions: What are the relative contributions of kin selection and individual selection to the evolution of dispersal rates in fragmented landscapes? How do environmental parameters influence the relative contributions of both evolutionary forces? Features of the model: Individual-based simulation model of a metapopulation. Logistic local growth dynamics and density-dependent dispersal. An optional shuffling algorithm allows the continuous destruction of any genetic structure in the metapopulation. Ranges of key variables: Depending on dispersal mortality (0.05-0.4) and the strength of environmental fluctuations, mean dispersal probability varied between 0.05 and 0.5. Conclusions: For local population sizes of 100 individuals, kin selection alone could account for dispersal probabilities of up to 0.1. It may result in a ten-fold increase of optimal dispersal rates compared with those predicted on the basis of individual selection alone. Such a substantial contribution of kin selection to dispersal is restricted to cases where the overall dispersal probabilities are small (textless 0.1). In the latter case, as much as 30\% of the total fitness of dispersing individuals could arise from the increased reproduction of kin left in the natal patch.},
  language  = {en}
}