@article{StepniakKaestnerPoggietal.2015,
  author    = {Stepniak, Beata and K{\"a}stner, Anne and Poggi, Giulia and Mitjans, Marina and Begemann, Martin and Hartmann, Annette and Van der Auwera, Sandra and Sananbenesi, Farahnaz and Kr{\"u}ger-Burg, Dilja and Matuszko, Gabriela and Brosi, Cornelia and Homuth, Georg and V{\"o}lzke, Henry and Benseler, Fritz and Bagni, Claudia and Fischer, Utz and Dityatev, Alexander and Grabe, Hans-J{\"o}rgen and Rujescu, Dan and Fischer, Andre and Ehrenreich, Hannelore},
  title     = {Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes},
  series = {EMBO Molecular Medicine},
  volume    = {7},
  journal   = {EMBO Molecular Medicine},
  number    = {12},
  doi       = {10.15252/emmm.201505696},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-136893},
  pages     = {1565-1579},
  year      = {2015},
  abstract  = {Fragile X syndrome (FXS) is mostly caused by a CGG triplet expansion in the fragile X mental retardation 1 gene (FMR1). Up to 60\% of affected males fulfill criteria for autism spectrum disorder (ASD), making FXS the most frequent monogenetic cause of syndromic ASD. It is unknown, however, whether normal variants (independent of mutations) in the fragile X gene family (FMR1, FXR1, FXR2) and in FMR2 modulate autistic features. Here, we report an accumulation model of 8 SNPs in these genes, associated with autistic traits in a discovery sample of male patients with schizophrenia (N = 692) and three independent replicate samples: patients with schizophrenia (N = 626), patients with other psychiatric diagnoses (N = 111) and a general population sample (N = 2005). For first mechanistic insight, we contrasted microRNA expression in peripheral blood mononuclear cells of selected extreme group subjects with high-versus low-risk constellation regarding the accumulation model. Thereby, the brain-expressed miR-181 species emerged as potential "umbrella regulator", with several seed matches across the fragile X gene family and FMR2. To conclude, normal variation in these genes contributes to the continuum of autistic phenotypes.},
  language  = {en}
}
@article{HartmannPluetschowMottoketal.2019,
  author    = {Hartmann, Sylvia and Pl{\"u}tschow, Annette and Mottok, Anja and Bernd, Heinz-Wolfram and Feller, Alfred C. and Ott, German and Cogliatti, Sergio and Fend, Falko and Quintanilla-Martinez, Leticia and Stein, Harald and Klapper, Wolfram and M{\"o}ller, Peter and Rosenwald, Andreas and Engert, Andreas and Hansmann, Martin-Leo and Eichenauer, Dennis A.},
  title     = {The time to relapse correlates with the histopathological growth pattern in nodular lymphocyte predominant Hodgkin lymphoma},
  series = {American Journal of Hematology},
  volume    = {94},
  journal   = {American Journal of Hematology},
  number    = {11},
  doi       = {10.1002/ajh.25607},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-212594},
  pages     = {1208 -- 1213},
  year      = {2019},
  abstract  = {Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) can present with different histopathological growth patterns. The impact of these histopathological growth patterns on relapse characteristics is unknown. We therefore analyzed paired biopsies obtained at initial diagnosis and relapse from 33 NLPHL patients who had received first-line treatment within German Hodgkin Study Group (GHSG) trial protocols, and from a second cohort of 41 relapsed NLPHL patients who had been treated outside GHSG studies. Among the 33 GHSG patients, 21 patients presented with a typical growth pattern at initial diagnosis, whereas 12 patients had a variant histology. The histopathological growth patterns at initial diagnosis and at relapse were consistent in 67\% of cases. A variant histology at initial diagnosis was associated with a shorter median time to lymphoma recurrence (2.8 vs 5.2 years; P = .0219). A similar tendency towards a shorter median time to lymphoma recurrence was observed for patients presenting with a variant histology at relapse, irrespective of the growth pattern at initial diagnosis. Results obtained from the 41 NLPHL patients who had been treated outside GHSG studies were comparable (median time to lymphoma recurrence for variant histology vs typical growth pattern at initial diagnosis: 1.5 vs 7.0 years). In conclusion, the histopathological growth pattern remains consistent at relapse in the majority of NLPHL cases, and has major impact on the time of relapse.},
  language  = {en}
}