Publications

 2019

• Capri Y, Flex E, Krumbach OHF, Carpentieri G, Cecchetti S, Lißewski C, Rezaei Adariani S, Schanze D, Brinkmann J, Piard J, Pantaleoni F, Lepri FR, Goh ES, Chong K, Stieglitz E, Meyer J, Kuechler A, Bramswig NC, Sacharow S, Strullu M, Vial Y, Vignal C, Kensah G, Cuturilo G, Kazemein Jasemi NS, Dvorsky R, Monaghan KG, Vincent LM, Cavé H, Verloes A, Ahmadian MR, Tartaglia M, Zenker M. Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. Am J Hum Genet 2019; 104:1223-1232. PMID: 31130282
• Motta M, Sagi-Dain L, Krumbach OHF, Hahn A, Peleg A, German A, Lissewski C, Coppola S, Pantaleoni F, Kocherscheid L, Altmüller F, Schanze D, Logeswaran T, Chahrokh-Zadeh S, Munzig A, Nakhaei-Rad S, Cavé H, Ahmadian MR, Tartaglia M, Zenker M. Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy. Hum Mol Genet 2019 May 21. [Epub ahead of print] PMID: 31108500
• Andelfinger G, Marquis C, Raboisson MJ, Théoret Y, Waldmüller S, Wiegand G, Gelb BD, Zenker M, Delrue MA, Hofbeck M. Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition. J Am Coll Cardiol 2019; 73:2237-2239. PMID: 31047013
• Motta M, Fidan M, Bellacchio E, Pantaleoni F, Schneider-Heieck K, Coppola S, Borck G, Salviati L, Zenker M, Cirstea IC, Tartaglia M. Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling. Hum Mol Genet 2019; 28:1007-1022. PMID: 30481304

2018

• Haghighi F, Dahlmann J, Nakhaei-Rad S, Lang A, Kutschka I, Zenker M, Kensah G, Piekorz RP, Ahmadian MR. bFGF-mediated pluripotency maintenance in human induced pluripotent stem cells is associated with NRAS-MAPK signaling. Cell Commun Signal 2018; 16:96. PMID: 30518391
• Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gérard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Rivière JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Am J Hum Genet 2018; 103:752-768. PMID: 30388402
• Grant AR, Cushman BJ, Cavé H, Dillon MW, Gelb BD, Gripp KW, Lee JA, Mason-Suares H, Rauen KA, Tartaglia M, Vincent LM, Zenker M. Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework. Hum Mutat. 2018; 39:1485-1493. PMID: 30311384
• Meyer Zum Büschenfelde U, Brandenstein LI, von Elsner L, Flato K, Holling T, Zenker M, Rosenberger G, Kutsche K. RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1. PLoS Genet 2018; 14:e1007370 PMID: 29734338
• Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med. 2018 Feb 22. PMID: 29469822
• Gelb BD, Cavé H, Dillon MW, Gripp KW, Lee JA, Mason-Suares H, Rauen KA, Williams B, Zenker M, Vincent LM. ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. Genet Med. 2018 Mar 1. PMID: 29493581
• Hain A, Krämer M, Linka RM, Nakhaei-Rad S, Ahmadian MR, Häussinger D, Borkhardt A, Münk C. IL-2 Inducible Kinase ITK is Critical for HIV-1 Infection of Jurkat T-cells. Sci Rep 2018 Feb 16;8 (1):3217. PMID: 29453458
• Nakhaei-Rad S, Haghighi F, Nouri P, Rezaei Adariani S, Lissy J, Kazemein Jasemi NS, Dvorsky R, Ahmadian MR. Structural fingerprints, interactions, and signaling networks of RAS family proteins beyond RAS isoforms. Crit Rev Biochem Mol Biol. 2018 Apr;53(2):130-156. PMID: 29457927
• Harms FL, Alawi M, Amor DJ, Tan TY, Cuturilo G, Lissewski C, Brinkmann J, Schanze D, Kutsche K, Zenker M. The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor. Am J Med Genet A. 2018 Feb;176(2):470-476. PMID: 29271604
• Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX; University of Washington Center for Mendelian Genomics, Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM. Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. Am J Hum Genet. 2018 Jan 17. PMID: 29394990
• zum Büschenfelde UM, Brandenstein LI, von Elsner L, Flato K, Holling T, Zenker M, Rosenberger G, Kutsche K. RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1. PLOS Genet. 2018 May 7;14(5):e1007370. PMID: 29734338
• Baran P, Hansen S, Waetzig GH, Akbarzadeh M, Lamertz L, Huber HJ, Ahmadian MR, Moll JM, Scheller J. The balance of Interleukin (IL)-6, IL-6:soluble IL-6 receptor (IL6R) and IL-6:sIL-6R:sgp130 complexes allows simultaneous classic and trans-signaling. J Biol Chem. 2018 May 4;293(18):6762-6775. PMID: 29559558
• Dahlmann J, Awad G, Dolny C, Weinert S, Richter K, Fischer KD, Munsch T, Leßmann V, Volleth M, Zenker M, Chen Y, Merkl C, Schnieke A, Baraki H, Kutschka I, Kensah G. Generation of functional cardiomyocytes from ratembryonic and induced pluripotent stem cells using feeder-free expansion and differentiation in suspension culture. PLoS One. 2018 Mar 7;13(3):e0192652. PMID: 29513687

2017

• Altmüller F, Lissewski C, Bertola D, Flex E, Stark Z, Spranger S, Baynam G, Buscarilli de Moraes M, Dyack S, Gillis J, Yntema HG, Pantaleoni F, van Loon RL, MacKay S, Mina K, Schanze I, Tan TY, Walsh M, White SM, Niewisch MR, García-Miñaúr S, Plaza D, Ahmadian MR, Cavé H, Tartaglia M, Zenker M. Genotype and phenotype spectrum of NRAS germline mutations. Eur J Hum Genet. 2017 Jun;25(7):823-831. PMID: 28594414
• Altmüller F, Pothula S, Annamneedi A, Nakhaei-Rad S, Montenegro-Venegas C, Pina-Fernández E, Marini C, Santos M, Schanze D, Montag D, Ahmadian MR, Stork O, Zenker M, Fejtova A. Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy. PLoS Genet. 2017 Mar 27;13(3):e1006684. PMID: 28346493
• Gripp KW, Kolbe V, Brandenstein LI, Rosenberger G. Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics. Clin Genet. 2017 Jan 31. PMID: 28139825

2016

• Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez MJ, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med. 2016 Dec;18(12):1226-1234. PMID: 27101134
• Nakhaeizadeh H, Amin E, Nakhaei-Rad S, Dvorsky R, Ahmadian MR. The RAS-Effector Interface: Isoform-Specific Differences in the Effector Binding Regions. PLoS One. 2016 Dec 9;11(12):e0167145. doi: 10.1371/journal.pone.0167145. eCollection 2016. PMID: 27936046
• Brand K, Kentsch H, Glashoff C, Rosenberger G. RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR. Hum Mutat. 2014 Nov;35(11):1372-81. PMID: 25178484
• Boppudi S, Bögershausen N, Hove HB, Percin EF, Aslan D, Dvorsky R, Kayhan G, Li Y, Cursiefen C, Tantcheva-Poor I, Toft PB, Bartsch O, Lissewski C, Wieland I, Jakubiczka S, Wollnik B, Ahmadian MR, Heindl LM, Zenker M. Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. Clin Genet. 2016 Oct;90(4):334-42. PMID: 26970110