Kliniken & Institute … Institute Institute of Human… Research Publikationen 2019

Publikationen 2019

1.      Lerche M, Eichstaedt CA, Hinderhofer K, Grünig E, Tausche K, Ziemssen T, Halank M, Seyfarth HJ Mutually reinforcing effects of genetic variants and interferon β-1a therapy for pulmonary arterial hypertension development in multiple sclerosis patients. Pulmonary Circulation. In Press (2019).

2.      Schmitteckert S, Ziegler C, Rappold GA, Niesler B*, Rolletschek A Molecular characterization of embryonic stem cell-derived cardiac neural crest-like cell International Journal of Stem Cells (2019) in press.

3.      Thoeni C, Waldherr R, Scheuerer J, Schmitteckert S, Roeth R, Niesler B, Flechtenmacher C, Goeppert B, Schirmacher P, Lasitschka F Altered Expression of ATP-binding cassette transporters ABCB11 and ABCB4 in primary sclerosing cholangitis Canadian Journal of Gastroenterology and Hepatology (2019) in press.

4.      Per-Ole Carstens, Eva Schwaibold, Katharina Schregel, Carolin Obermaier, Arne Wrede, Sabrina Zechel, Silke Pauli, and Jens Schmidt Recurrent spontaneous pneumothorax in X-linked myotubular myopathy: a new phenotype? Neurology: Genetics (2019) 5(3):e327 doi:10.1212/NXG.0000000000000327.

5.      Baraghithy S, Smoum R, Drori A, Hadar R, Gammal A, Hirsch S, Attar-Namdar M, Nemirovski A, Gabet Y, Langer Y, Pollak Y, Schaaf CP, Rech ME, Gross-Tsur V, Bab I, Mechoulam R, Tam J Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity J Bone Miner Res (2019) 34(1):93-105 doi:10.1002/jbmr.3591.

6.      Goin-Kochel RP, Scaglia F, Schaaf CP, Berry LN, Dang D, Nowel KP, Laakman AL, Dowell LR, Minard CG, Loh A, Beaudet AL. Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study Glob Pediatr Health (2019) 6:2333794X19830696 doi:10.1177/2333794X19830696.

7.      Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study, Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies Genet Med (2019) 21(3):663-675 doi:10.1038/s41436-018-0085-6.

8.      Thomann AK, Reindl W, Wüstenberg T, Kmuche D, Ebert MP, Szabo K, Wolf RC, Hirjak D, Niesler B, Griebe M, Thomann PA Aberrant brain structural large-scale connectome in Crohn’s disease Neurogastroenterology and Motility (2019) 31(6):e13593 doi:10.1111/nmo.13593.

9.      Muenchau S, Deutsch R, Hielscher T, Heber N, Niesler B, Stanifer ML, Boulant S Hypoxic environment promotes barrier formation in human intestinal epithelial cells through regulation of miR-320a expression Molecular and Cellular Biology (2019) 39(14). pii: e00553-18 doi:10.1128/MCB.00553-18.

10.      Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. Reanalysis of Clinical Exome Sequencing Data N Engl J Med (2019) 380(25):2478-2480 doi:10.1056/NEJMc1812033.

11.      Erger F, Schaaf CP, Netzer C. Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. Mol Cell Probes (2019) 45:84-88 doi:10.1016/j.mcp.2019.03.006.

12.      Orlik C, Deibel D, Küblbeck J, Balta E, Ganskih S, Habicht J, Niesler B, Schröder-Braunstein J, Schäkel K, Wabnitz G and Samstag Y Keratinocytes costimulate naive human T cells via CD2: a potential target to prevent the development of proinflammatory Th1 cells in the skin Cell Mol Immunol (2019) doi:10.1038/s41423-019-0261-x.

13.      Czogalla B, Kahaly M, Mayr D, Schmoeckel E, Niesler B, Hester A, Zeder-Göß C, Kolben T, Burges A, Mahner S, Jeschke U, Trillsch F. Correlation of NRF2 and progesterone receptor and its effects on ovarian cancer biology Cancer management and research (2019) 11:7673-7684 doi:10.2147/CMAR.S210004.

14.      Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies Genet Med (2019) 21(8):1797-1807 doi:10.1038/s41436-019-0433-1.

15.      Gunn D, Garsed K, Lam C, Singh G, Lingaya M, Wahl V, Niesler B, Henry A, Hall I, Whorwell P, Spiller R Abnormalities of mucosal serotonin metabolism in IBS with diarrhoea predict responsiveness to Ondansetron, a 5-HT3 receptor antagonist Alimentary Pharmacology and Therapeutics (2019) 50(5):538-546 doi:10.1111/apt.15420.

16.      Fröhlich H, Kollmeyer ML, Linz V, Stuhlinger M, Groneberg D, Reigl A, Zizer E, Friebe A, Niesler B, Rappold, GA Gastrointestinal dysfunction in autism: altered motility and achalasia in Foxp1+/- mice Proc Natl Acad Sci USA (2019) 116(44):22237-22245 doi:10.1073/pnas.1911429116.

17.      Schmitteckert S, Mederer T, Roeth R, Guenther P., Holland-Cunz S, Metzger M, Samstag Y, Schröder-Braunstein J, Wabnitz G, Kurzhals S, Scheuerer J, Beretta CA, Lasitschka F, Rappold GA, Romero P, Niesler B Postnatal human enteric neurospheres show a remarkable molecular complexity Neurogastroenterology and Motility (2019) 31(10):e13674 doi:10.1111/nmo.13674.

18.      Sonner JK, Keil M, Falk-Paulsen M, Mishra N, Rehman A, Kramer M, Deumelandt K, Röwe J, Sanghvi K, Wolf L, von Landenberg A, Wolff H, Bharti R, Oezen I, Lanz TV, Wanke F, Tang Y, Brandao I, Mohapatra SR, Epping L, Grill A, Röth R, Niesler B, Meuth SG, Opitz CA, Okun JG, Reinhardt C, Kurschus FC, Wick W, Bode HB, Rosenstiel P, Platten M. Dietary tryptophan links encephalogenicity of autoreactive T cells with gut 1 microbial ecology Nature Communication (2019) 10(1):4877 doi:10.1038/s41467-019-12776-4.

19.      Liu S, Tian M, He F, Li J, Xie H, Liu W, Zhang Y, Zhang R, Yi M, Che F, Ma X, Zheng Y, Deng H, Wang G, Chen L, Sun X, Xu Y, Wang J, Zang Y, Han M, Wang X, Guan H, Ge Y, Wu C, Wang H, Liang H, Li H, Ran N, Yang Z, Huang H, Wei Y, Zheng X, Sun X, Feng X, Zheng L, Zhu T, Luo W, Chen Q, Yan Y, Huang Z, Jing Z, Guo Y, Zhang X, Schaaf CP, Xing J, Wang C, Yu F, Guan JS. Mutations in ASH1L confer susceptibility to Tourette syndrome. Mol Psychiatry (2019) 25(2):476-490 doi:10.1038/s41380-019-0560-8.

20.      Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, Pereira FA, Pautler RG, Zoghbi HY, Schaaf CP. Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity Hum Mol Genet. (2019) pii: ddz233 doi:10.1093/hmg/ddz233.

21.      Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. The Genomic and Clinical Landscape of Fetal Akinesia Genet Med (2019) doi:10.1038/s41436-019-0680-1.

22.      Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat. (2019) 41(3):632-640 doi:10.1002/humu.23950.

23.      Crutcher E, Pal R, Naini F, Zhang P, Laugsch M, Kim J, Bajic A, Schaaf CP. mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome. Sci Rep. (2019) 9(1):15935 doi:10.1038/s41598-019-52287-2.

24.      Ballinger EC, Schaaf CP, Patel AJ, de Maio A, Tao H, Talmage DA, Zoghbi HY, Role LW. Mecp2 Deletion from Cholinergic Neurons Selectively Impairs Recognition Memory and Disrupts Cholinergic Modulation of the Perirhinal Cortex. eNeuro (2019) 6(6) doi:10.1523/ENEURO.0134-19.2019.

25.      Benjamin RH, Yu X, Navarro Sanchez ML, Chen H, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scheuerle AE, Scott DA, Northrup H, Schaaf CP, Ray JW, McLean SD, Lupo PJ, Agopian AJ. Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries. Birth Defects Res. (2019) 111(18):1356-1364 doi:10.1002/bdr2.1549.