@article{MitjansBegemannJuetal.2017,
  author    = {Mitjans, M. and Begemann, M. and Ju, A. and Dere, E. and W{\"u}stefeld, L. and Hofer, S. and Hassouna, I. and Balkenhol, J. and Oliveira, B. and Van der Auwera, S. and Tammer, R. and Hammerschmidt, K. and V{\"o}lzke, H. and Homuth, G. and Cecconi, F. and Chowdhury, K. and Grabe, H. and Frahm, J. and Boretius, S. and Dandekar, T. and Ehrenreich, H.},
  title     = {Sexual dimorphism of \(AMBRA1\)-related autistic features in human and mouse},
  series = {Translational Psychiatry},
  volume    = {2017},
  journal   = {Translational Psychiatry},
  number    = {7},
  doi       = {10.1038/tp.2017.213},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-173782},
  year      = {2017},
  abstract  = {\(Ambra1\) is linked to autophagy and neurodevelopment. Heterozygous \(Ambra1\) deficiency induces autism-like behavior in a sexually dimorphic manner. Extraordinarily, autistic features are seen in female mice only, combined with stronger Ambra1 protein reduction in brain compared to males. However, significance of \(AMBRA1\) for autistic phenotypes in humans and, apart from behavior, for other autism-typical features, namely early brain enlargement or increased seizure propensity, has remained unexplored. Here we show in two independent human samples that a single normal \(AMBRA1\) genotype, the intronic SNP rs3802890-AA, is associated with autistic features in women, who also display lower \(AMBRA1\) mRNA expression in peripheral blood mononuclear cells relative to female GG carriers. Located within a non-coding RNA, likely relevant for mRNA and protein interaction, rs3802890 (A versus G allele) may affect its stability through modification of folding, as predicted by \(in\) \(silico\) analysis. Searching for further autism-relevant characteristics in \(Ambra1^{+/-}\) mice, we observe reduced interest of female but not male mutants regarding pheromone signals of the respective other gender in the social intellicage set-up. Moreover, altered pentylentetrazol-induced seizure propensity, an \(in\) \(vivo\) readout of neuronal excitation-inhibition dysbalance, becomes obvious exclusively in female mutants. Magnetic resonance imaging reveals mild prepubertal brain enlargement in both genders, uncoupling enhanced brain dimensions from the primarily female expression of all other autistic phenotypes investigated here. These data support a role of \(AMBRA1/Ambra1\) partial loss-of-function genotypes for female autistic traits. Moreover, they suggest \(Ambra1\) heterozygous mice as a novel multifaceted and construct-valid genetic mouse model for female autism.},
  language  = {en}
}
@article{TuetuencueOlmaKunzeetal.2022,
  author    = {T{\"u}t{\"u}nc{\"u}, Serdar and Olma, Manuel and Kunze, Claudia and Dietzel, Joanna and Schurig, Johannes and Fiessler, Cornelia and Malsch, Carolin and Haas, Tobias Eberhard and Dimitrijeski, Boris and Doehner, Wolfram and Hagemann, Georg and Hamilton, Frank and Honermann, Martin and Jungehulsing, Gerhard Jan and Kauert, Andreas and Koennecke, Hans-Christian and Mackert, Bruno-Marcel and Nabavi, Darius and Nolte, Christian H. and Reis, Joschua Mirko and Schmehl, Ingo and Sparenberg, Paul and Stingele, Robert and V{\"o}lzke, Enrico and Waldschmidt, Carolin and Zeise-Wehry, Daniel and Heuschmann, Peter U. and Endress, Matthias and Haeusler, Karl Georg},
  title     = {Off-label-dosing of non-vitamin K-dependent oral antagonists in AF patients before and after stroke: results of the prospective multicenter Berlin Atrial Fibrillation Registry},
  series = {Journal of Neurology},
  volume    = {269},
  journal   = {Journal of Neurology},
  number    = {1},
  issn      = {1432-1459},
  doi       = {10.1007/s00415-021-10866-2},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-266969},
  pages     = {470-480},
  year      = {2022},
  abstract  = {Aims We aimed to analyze prevalence and predictors of NOAC off-label under-dosing in AF patients before and after the index stroke. Methods The post hoc analysis included 1080 patients of the investigator-initiated, multicenter prospective Berlin Atrial Fibrillation Registry, designed to analyze medical stroke prevention in AF patients after acute ischemic stroke. Results At stroke onset, an off-label daily dose was prescribed in 61 (25.5\%) of 239 NOAC patients with known AF and CHA2DS2-VASc score ≥ 1, of which 52 (21.8\%) patients were under-dosed. Under-dosing was associated with age ≥ 80 years in patients on rivaroxaban [OR 2.90, 95\% CI 1.05-7.9, P = 0.04; n = 29] or apixaban [OR 3.24, 95\% CI 1.04-10.1, P = 0.04; n = 22]. At hospital discharge after the index stroke, NOAC off-label dose on admission was continued in 30 (49.2\%) of 61 patients. Overall, 79 (13.7\%) of 708 patients prescribed a NOAC at hospital discharge received an off-label dose, of whom 75 (10.6\%) patients were under-dosed. Rivaroxaban under-dosing at discharge was associated with age ≥ 80 years [OR 3.49, 95\% CI 1.24-9.84, P = 0.02; n = 19]; apixaban under-dosing with body weight ≤ 60 kg [OR 0.06, 95\% CI 0.01-0.47, P < 0.01; n = 56], CHA2DS2-VASc score [OR per point 1.47, 95\% CI 1.08-2.00, P = 0.01], and HAS-BLED score [OR per point 1.91, 95\% CI 1.28-2.84, P < 0.01]. Conclusion At stroke onset, off-label dosing was present in one out of four, and under-dosing in one out of five NOAC patients. Under-dosing of rivaroxaban or apixaban was related to old age. In-hospital treatment after stroke reduced off-label NOAC dosing, but one out of ten NOAC patients was under-dosed at discharge.},
  language  = {en}
}