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ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant.
Haupt J, Deichsel A, Stange K, Ast C, Bocciardi R, Ravazzolo R, Di Rocco M, Ferrari P, Landi A, Kaplan FS, Shore EM, Reissner C, Seemann P. Haupt J, et al. Among authors: reissner c. Hum Mol Genet. 2014 Oct 15;23(20):5364-77. doi: 10.1093/hmg/ddu255. Epub 2014 May 22. Hum Mol Genet. 2014. PMID: 24852373 Free PMC article.
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.
Seemann P, Brehm A, König J, Reissner C, Stricker S, Kuss P, Haupt J, Renninger S, Nickel J, Sebald W, Groppe JC, Plöger F, Pohl J, Schmidt-von Kegler M, Walther M, Gassner I, Rusu C, Janecke AR, Dathe K, Mundlos S. Seemann P, et al. Among authors: reissner c. PLoS Genet. 2009 Nov;5(11):e1000747. doi: 10.1371/journal.pgen.1000747. Epub 2009 Nov 26. PLoS Genet. 2009. PMID: 19956691 Free PMC article.
A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.
Degenkolbe E, König J, Zimmer J, Walther M, Reißner C, Nickel J, Plöger F, Raspopovic J, Sharpe J, Dathe K, Hecht JT, Mundlos S, Doelken SC, Seemann P. Degenkolbe E, et al. Among authors: reissner c. PLoS Genet. 2013;9(10):e1003846. doi: 10.1371/journal.pgen.1003846. Epub 2013 Oct 3. PLoS Genet. 2013. PMID: 24098149 Free PMC article.
Modulation of synaptic function through the α-neurexin-specific ligand neurexophilin-1.
Born G, Breuer D, Wang S, Rohlmann A, Coulon P, Vakili P, Reissner C, Kiefer F, Heine M, Pape HC, Missler M. Born G, et al. Among authors: reissner c. Proc Natl Acad Sci U S A. 2014 Apr 1;111(13):E1274-83. doi: 10.1073/pnas.1312112111. Epub 2014 Mar 17. Proc Natl Acad Sci U S A. 2014. PMID: 24639499 Free PMC article.
Unveiled α-neurexins take center stage.
Reissner C, Missler M. Reissner C, et al. Structure. 2011 Jun 8;19(6):749-50. doi: 10.1016/j.str.2011.05.005. Structure. 2011. PMID: 21645846 Free article.
Dendritic spine formation and synaptic function require neurobeachin.
Niesmann K, Breuer D, Brockhaus J, Born G, Wolff I, Reissner C, Kilimann MW, Rohlmann A, Missler M. Niesmann K, et al. Among authors: reissner c. Nat Commun. 2011 Nov 22;2:557. doi: 10.1038/ncomms1565. Nat Commun. 2011. PMID: 22109531 Free PMC article.
Common exonic missense variants in the C2 domain of the human KIBRA protein modify lipid binding and cognitive performance.
Duning K, Wennmann DO, Bokemeyer A, Reissner C, Wersching H, Thomas C, Buschert J, Guske K, Franzke V, Flöel A, Lohmann H, Knecht S, Brand SM, Pöter M, Rescher U, Missler M, Seelheim P, Pröpper C, Boeckers TM, Makuch L, Huganir R, Weide T, Brand E, Pavenstädt H, Kremerskothen J. Duning K, et al. Among authors: reissner c. Transl Psychiatry. 2013 Jun 18;3(6):e272. doi: 10.1038/tp.2013.49. Transl Psychiatry. 2013. PMID: 23778582 Free PMC article.
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