Seemann P - Search Results

1

Biophysical and structural characterization of a folded core domain within the proregion of growth and differentiation factor-5.

Thieme T, Patzschke R, Job F, Liebold J, Seemann P, Lilie H, Balbach J, Schwarz E. Thieme T, et al. Among authors: seemann p. FEBS J. 2014 Nov;281(21):4866-77. doi: 10.1111/febs.13025. Epub 2014 Sep 26. FEBS J. 2014. PMID: 25174448 Free article.

2

Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.

Stange K, Thieme T, Hertel K, Kuhfahl S, Janecke AR, Piza-Katzer H, Penttinen M, Hietala M, Dathe K, Mundlos S, Schwarz E, Seemann P. Stange K, et al. Among authors: seemann p. J Mol Biol. 2014 Sep 23;426(19):3221-3231. doi: 10.1016/j.jmb.2014.07.029. Epub 2014 Aug 1. J Mol Biol. 2014. PMID: 25092592

3

Brachydactyly type A2 associated with a defect in proGDF5 processing.

Plöger F, Seemann P, Schmidt-von Kegler M, Lehmann K, Seidel J, Kjaer KW, Pohl J, Mundlos S. Plöger F, et al. Among authors: seemann p. Hum Mol Genet. 2008 May 1;17(9):1222-33. doi: 10.1093/hmg/ddn012. Epub 2008 Jan 18. Hum Mol Genet. 2008. PMID: 18203755

4

Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

Stange K, Ott CE, Schmidt-von Kegler M, Gillesen-Kaesbach G, Mundlos S, Dathe K, Seemann P. Stange K, et al. Among authors: seemann p. J Hum Genet. 2015 Aug;60(8):419-25. doi: 10.1038/jhg.2015.48. Epub 2015 May 21. J Hum Genet. 2015. PMID: 25994865

5

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: seemann p. PLoS Genet. 2013;9(10):e1003846. doi: 10.1371/journal.pgen.1003846. Epub 2013 Oct 3. PLoS Genet. 2013. PMID: 24098149 Free PMC article.

6

Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome.

Degenkolbe E, Schwarz C, Ott CE, König J, Schmidt-Bleek K, Ellinghaus A, Schmidt T, Lienau J, Plöger F, Mundlos S, Duda GN, Willie BM, Seemann P. Degenkolbe E, et al. Among authors: seemann p. Bone. 2015 Apr;73:111-9. doi: 10.1016/j.bone.2014.12.017. Epub 2014 Dec 24. Bone. 2015. PMID: 25543012

7

The Fibrodysplasia Ossificans Progressiva (FOP) mutation p.R206H in ACVR1 confers an altered ligand response.

Hildebrand L, Stange K, Deichsel A, Gossen M, Seemann P. Hildebrand L, et al. Among authors: seemann p. Cell Signal. 2017 Jan;29:23-30. doi: 10.1016/j.cellsig.2016.10.001. Epub 2016 Oct 4. Cell Signal. 2017. PMID: 27713089

8

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.

Stange K, Désir J, Kakar N, Mueller TD, Budde BS, Gordon CT, Horn D, Seemann P, Borck G. Stange K, et al. Among authors: seemann p. Orphanet J Rare Dis. 2015 Jun 24;10:84. doi: 10.1186/s13023-015-0299-5. Orphanet J Rare Dis. 2015. PMID: 26105076 Free PMC article.

9

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: seemann p. 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.

10

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S. Lehmann K, et al. Among authors: seemann p. Am J Hum Genet. 2007 Aug;81(2):388-96. doi: 10.1086/519697. Epub 2007 Jun 8. Am J Hum Genet. 2007. PMID: 17668388 Free PMC article.

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