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Items: 1 to 20 of 114

1.

New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.

Schwaerzer GK, Hiepen C, Schrewe H, Nickel J, Ploeger F, Sebald W, Mueller T, Knaus P.

J Bone Miner Res. 2012 Feb;27(2):429-42. doi: 10.1002/jbmr.532.

2.

Negative mutation screening of the NOG, BMPR1B, GDF5, and FGF9 genes indicates further genetic heterogeneity of the facioaudiosymphalangism syndrome.

van den Ende JJ, Borra V, Van Hul W.

Clin Dysmorphol. 2013 Jan;22(1):1-6. doi: 10.1097/MCD.0b013e3283590986.

PMID:
22968293
3.

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.

PLoS Genet. 2013;9(10):e1003846. doi: 10.1371/journal.pgen.1003846. Epub 2013 Oct 3.

4.

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.

PLoS Genet. 2009 Nov;5(11):e1000747. doi: 10.1371/journal.pgen.1000747. Epub 2009 Nov 26.

5.

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.

Bone. 2015 Apr;73:111-9. doi: 10.1016/j.bone.2014.12.017. Epub 2014 Dec 24.

PMID:
25543012
6.

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.

J Mol Biol. 2014 Sep 23;426(19):3221-31. doi: 10.1016/j.jmb.2014.07.029. Epub 2014 Aug 1.

PMID:
25092592
7.

GDF5 is a second locus for multiple-synostosis syndrome.

Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J 3rd, Mundlos S, Krakow D.

Am J Hum Genet. 2006 Apr;78(4):708-12. Epub 2006 Feb 24.

8.

L51P - A BMP2 variant with osteoinductive activity via inhibition of Noggin.

Albers CE, Hofstetter W, Sebald HJ, Sebald W, Siebenrock KA, Klenke FM.

Bone. 2012 Sep;51(3):401-6. doi: 10.1016/j.bone.2012.06.020. Epub 2012 Jun 30.

PMID:
22750402
9.

Simvastatin antagonizes tumor necrosis factor-alpha inhibition of bone morphogenetic proteins-2-induced osteoblast differentiation by regulating Smad signaling and Ras/Rho-mitogen-activated protein kinase pathway.

Yamashita M, Otsuka F, Mukai T, Otani H, Inagaki K, Miyoshi T, Goto J, Yamamura M, Makino H.

J Endocrinol. 2008 Mar;196(3):601-13. doi: 10.1677/JOE-07-0532.

10.

Trps1 plays a pivotal role downstream of Gdf5 signaling in promoting chondrogenesis and apoptosis of ATDC5 cells.

Itoh S, Kanno S, Gai Z, Suemoto H, Kawakatsu M, Tanishima H, Morimoto Y, Nishioka K, Hatamura I, Yoshida M, Muragaki Y.

Genes Cells. 2008 Apr;13(4):355-63. doi: 10.1111/j.1365-2443.2008.01170.x.

11.

Biphasic effects of transforming growth factor β on bone morphogenetic protein-induced osteoblast differentiation.

de Gorter DJ, van Dinther M, Korchynskyi O, ten Dijke P.

J Bone Miner Res. 2011 Jun;26(6):1178-87. doi: 10.1002/jbmr.313.

12.

A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome.

Tang L, Wu X, Zhang H, Lu S, Wu M, Shen C, Chen X, Wang Y, Wang W, Shen Y, Gu M, Ding X, Jin X, Fei J, Wang Z.

Hum Mol Genet. 2017 Apr 1;26(7):1280-1293. doi: 10.1093/hmg/ddx029.

PMID:
28169396
13.

Virtual screening and selection of drug-like compounds to block noggin interaction with bone morphogenetic proteins.

Ahmed S, Metpally RP, Sangadala S, Reddy BV.

J Mol Graph Model. 2010 Apr;28(7):670-82. doi: 10.1016/j.jmgm.2010.01.006. Epub 2010 Jan 22.

PMID:
20137990
14.

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Plöger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S.

J Clin Invest. 2005 Sep;115(9):2373-81. Epub 2005 Aug 25.

15.

Distinct functions of BMP4 and GDF5 in the regulation of chondrogenesis.

Hatakeyama Y, Tuan RS, Shum L.

J Cell Biochem. 2004 Apr 15;91(6):1204-17.

PMID:
15048875
16.
17.

Bone morphogenetic proteins in bone stimulate osteoclasts and osteoblasts during bone development.

Okamoto M, Murai J, Yoshikawa H, Tsumaki N.

J Bone Miner Res. 2006 Jul;21(7):1022-33.

18.

RNA interference for noggin enhances the biological activity of bone morphogenetic proteins in vivo and in vitro.

Takayama K, Suzuki A, Manaka T, Taguchi S, Hashimoto Y, Imai Y, Wakitani S, Takaoka K.

J Bone Miner Metab. 2009;27(4):402-11. doi: 10.1007/s00774-009-0054-x. Epub 2009 Feb 28.

PMID:
19252814
19.

Bone morphogenetic protein signals are required for cartilage formation and differently regulate joint development during skeletogenesis.

Tsumaki N, Nakase T, Miyaji T, Kakiuchi M, Kimura T, Ochi T, Yoshikawa H.

J Bone Miner Res. 2002 May;17(5):898-906.

20.

Upregulation of ID protein by growth and differentiation factor 5 (GDF5) through a smad-dependent and MAPK-independent pathway in HUVSMC.

Chen X, Zankl A, Niroomand F, Liu Z, Katus HA, Jahn L, Tiefenbacher C.

J Mol Cell Cardiol. 2006 Jul;41(1):26-33. Epub 2006 May 22.

PMID:
16716349

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