@article{KoenigerBellMifkaetal.2021,
  author    = {Koeniger, Tobias and Bell, Luisa and Mifka, Anika and Enders, Michael and Hautmann, Valentin and Mekala, Subba Rao and Kirchner, Philipp and Ekici, Arif B. and Schulz, Christian and W{\"o}rsd{\"o}rfer, Philipp and Mencl, Stine and Kleinschnitz, Christoph and Erg{\"u}n, S{\"u}leyman and Kuerten, Stefanie},
  title     = {Bone marrow-derived myeloid progenitors in the leptomeninges of adult mice},
  series = {Stem Cells},
  volume    = {39},
  journal   = {Stem Cells},
  number    = {2},
  doi       = {10.1002/stem.3311},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-224452},
  pages     = {227 -- 239},
  year      = {2021},
  abstract  = {Although the bone marrow contains most hematopoietic activity during adulthood, hematopoietic stem and progenitor cells can be recovered from various extramedullary sites. Cells with hematopoietic progenitor properties have even been reported in the adult brain under steady-state conditions, but their nature and localization remain insufficiently defined. Here, we describe a heterogeneous population of myeloid progenitors in the leptomeninges of adult C57BL/6 mice. This cell pool included common myeloid, granulocyte/macrophage, and megakaryocyte/erythrocyte progenitors. Accordingly, it gave rise to all major myelo-erythroid lineages in clonogenic culture assays. Brain-associated progenitors persisted after tissue perfusion and were partially inaccessible to intravenous antibodies, suggesting their localization behind continuous blood vessel endothelium such as the blood-arachnoid barrier. Flt3\(^{Cre}\) lineage tracing and bone marrow transplantation showed that the precursors were derived from adult hematopoietic stem cells and were most likely continuously replaced via cell trafficking. Importantly, their occurrence was tied to the immunologic state of the central nervous system (CNS) and was diminished in the context of neuroinflammation and ischemic stroke. Our findings confirm the presence of myeloid progenitors at the meningeal border of the brain and lay the foundation to unravel their possible functions in CNS surveillance and local immune cell production.},
  language  = {en}
}
@article{GruenblattOnedaEkicietal.2017,
  author    = {Gr{\"u}nblatt, Edna and Oneda, Beatrice and Ekici, Arif B. and Ball, Juliane and Geissler, Julia and Uebe, Steffen and Romanos, Marcel and Rauch, Anita and Walitza, Susanne},
  title     = {High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder},
  series = {BMC Medical Genomics},
  volume    = {10},
  journal   = {BMC Medical Genomics},
  number    = {68},
  doi       = {10.1186/s12920-017-0299-5},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-172791},
  year      = {2017},
  abstract  = {Background Obsessive-Compulsive Disorder (OCD) is a common and chronic disorder in which a person has uncontrollable, reoccurring thoughts and behaviours. It is a complex genetic condition and, in case of early onset (EO), the patients manifest a more severe phenotype, and an increased heritability. Large (>500 kb) copy number variations (CNVs) previously associated with autism and schizophrenia have been reported in OCD. Recently, rare CNVs smaller than 500 kb overlapping risk loci for other neurodevelopmental conditions have also been reported in OCD, stressing the importance of examining CNVs of any size range. The aim of this study was to further investigate the role of rare and small CNVs in the aetiology of EO-OCD. Methods We performed high-resolution chromosomal microarray analysis in 121 paediatric OCD patients and in 124 random controls to identify rare CNVs (>50 kb) which might contribute to EO-OCD. Results The frequencies and the size of the observed rare CNVs in the patients did not differ from the controls. However, we observed a significantly higher frequency of rare CNVs affecting brain related genes, especially deletions, in the patients (OR = 1.98, 95\% CI 1.02-3.84; OR = 3.61, 95\% CI 1.14-11.41, respectively). Similarly, enrichment-analysis of CNVs gene content, performed with three independent methods, confirmed significant clustering of predefined genes involved in synaptic/brain related functional pathways in the patients but not in the controls. In two patients we detected \(de-novo\) CNVs encompassing genes previously associated with different neurodevelopmental disorders \(\textit{NRXN1, ANKS1B, UHRF1BP1}\)). Conclusions Our results further strengthen the role of small rare CNVs, particularly deletions, as susceptibility factors for paediatric OCD.},
  language  = {en}
}
@article{ZahnleiterUebeEkicietal.2013,
  author    = {Zahnleiter, Diana and Uebe, Steffen and Ekici, Arif B. and Hoyer, Juliane and Wiesener, Antje and Wieczorek, Dagmar and Kunstmann, Erdmute and Reis, Andr{\´e} and Doerr, Helmuth-Guenther and Rauch, Anita and Thiel, Christian T.},
  title     = {Rare Copy Number Variants Are a Common Cause of Short Stature},
  series = {PLoS Genetics},
  volume    = {9},
  journal   = {PLoS Genetics},
  number    = {3},
  issn      = {1553-7404},
  doi       = {10.1371/journal.pgen.1003365},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-127645},
  pages     = {e1003365},
  year      = {2013},
  abstract  = {Human growth has an estimated heritability of about 80\%-90\%. Nevertheless, the underlying cause of shortness of stature remains unknown in the majority of individuals. Genome-wide association studies (GWAS) showed that both common single nucleotide polymorphisms and copy number variants (CNVs) contribute to height variation under a polygenic model, although explaining only a small fraction of overall genetic variability in the general population. Under the hypothesis that severe forms of growth retardation might also be caused by major gene effects, we searched for rare CNVs in 200 families, 92 sporadic and 108 familial, with idiopathic short stature compared to 820 control individuals. Although similar in number, patients had overall significantly larger CNVs \((p-value <1 x 10^{-7})\). In a gene-based analysis of all non-polymorphic CNVs >50 kb for gene function, tissue expression, and murine knock-out phenotypes, we identified 10 duplications and 10 deletions ranging in size from 109 kb to 14 Mb, of which 7 were de novo (p < 0.03) and 13 inherited from the likewise affected parent but absent in controls. Patients with these likely disease causing 20 CNVs were smaller than the remaining group (p < 0.01). Eleven (55\%) of these CNVs either overlapped with known microaberration syndromes associated with short stature or contained GWAS loci for height. Haploinsufficiency (HI) score and further expression profiling suggested dosage sensitivity of major growth-related genes at these loci. Overall 10\% of patients carried a disease-causing CNV indicating that, like in neurodevelopmental disorders, rare CNVs are a frequent cause of severe growth retardation.},
  language  = {en}
}