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Items: 1 to 20 of 95

1.

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.

Asai-Coakwell M, French CR, Ye M, Garcha K, Bigot K, Perera AG, Staehling-Hampton K, Mema SC, Chanda B, Mushegian A, Bamforth S, Doschak MR, Li G, Dobbs MB, Giampietro PF, Brooks BP, Vijayalakshmi P, Sauvé Y, Abitbol M, Sundaresan P, van Heyningen V, Pourquié O, Underhill TM, Waskiewicz AJ, Lehmann OJ.

Hum Mol Genet. 2009 Mar 15;18(6):1110-21. doi: 10.1093/hmg/ddp008.

2.

Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies.

den Hollander AI, Biyanwila J, Kovach P, Bardakjian T, Traboulsi EI, Ragge NK, Schneider A, Malicki J.

BMC Genet. 2010 Nov 11;11:102. doi: 10.1186/1471-2156-11-102.

3.

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.

Ye M, Berry-Wynne KM, Asai-Coakwell M, Sundaresan P, Footz T, French CR, Abitbol M, Fleisch VC, Corbett N, Allison WT, Drummond G, Walter MA, Underhill TM, Waskiewicz AJ, Lehmann OJ.

Hum Mol Genet. 2010 Jan 15;19(2):287-98. doi: 10.1093/hmg/ddp496.

4.

A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal.

Wang J, Yu T, Wang Z, Ohte S, Yao RE, Zheng Z, Geng J, Cai H, Ge Y, Li Y, Xu Y, Zhang Q, Gusella JF, Fu Q, Pregizer S, Rosen V, Shen Y.

J Bone Miner Res. 2016 Apr;31(4):882-9. doi: 10.1002/jbmr.2761.

PMID:
26643732
5.
6.

Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.

Asai-Coakwell M, March L, Dai XH, Duval M, Lopez I, French CR, Famulski J, De Baere E, Francis PJ, Sundaresan P, Sauvé Y, Koenekoop RK, Berry FB, Allison WT, Waskiewicz AJ, Lehmann OJ.

Hum Mol Genet. 2013 Apr 1;22(7):1432-42. doi: 10.1093/hmg/dds560.

7.

GDF6, a novel locus for a spectrum of ocular developmental anomalies.

Asai-Coakwell M, French CR, Berry KM, Ye M, Koss R, Somerville M, Mueller R, van Heyningen V, Waskiewicz AJ, Lehmann OJ.

Am J Hum Genet. 2007 Feb;80(2):306-15.

8.

Apoptotic and proliferative defects characterize ocular development in a microphthalmic BMP model.

French CR, Stach TR, March LD, Lehmann OJ, Waskiewicz AJ.

Invest Ophthalmol Vis Sci. 2013 Jul 10;54(7):4636-47. doi: 10.1167/iovs.13-11674.

PMID:
23737474
9.

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.

Gestri G, Osborne RJ, Wyatt AW, Gerrelli D, Gribble S, Stewart H, Fryer A, Bunyan DJ, Prescott K, Collin JR, Fitzgerald T, Robinson D, Carter NP, Wilson SW, Ragge NK.

Hum Genet. 2009 Dec;126(6):791-803. doi: 10.1007/s00439-009-0730-x.

10.

Molecular mechanisms regulating ocular apoptosis in zebrafish gdf6a mutants.

Pant SD, March LD, Famulski JK, French CR, Lehmann OJ, Waskiewicz AJ.

Invest Ophthalmol Vis Sci. 2013 Aug 28;54(8):5871-9. doi: 10.1167/iovs.12-11315.

PMID:
23847306
11.

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.

Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA.

Hum Mutat. 2008 Aug;29(8):1017-27. doi: 10.1002/humu.20741.

PMID:
18425797
12.
13.

The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome.

Bourgeois P, Bolcato-Bellemin AL, Danse JM, Bloch-Zupan A, Yoshiba K, Stoetzel C, Perrin-Schmitt F.

Hum Mol Genet. 1998 Jun;7(6):945-57.

14.

Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).

Thornhill P, Bassett D, Lochmüller H, Bushby K, Straub V.

Brain. 2008 Jun;131(Pt 6):1551-61. doi: 10.1093/brain/awn078.

PMID:
18477595
15.

Isolation of zebrafish gdf7 and comparative genetic mapping of genes belonging to the growth/differentiation factor 5, 6, 7 subgroup of the TGF-beta superfamily.

Davidson AJ, Postlethwait JH, Yan YL, Beier DR, van Doren C, Foernzler D, Celeste AJ, Crosier KE, Crosier PS.

Genome Res. 1999 Feb;9(2):121-9.

16.

Xenopus GDF6, a new antagonist of noggin and a partner of BMPs.

Chang C, Hemmati-Brivanlou A.

Development. 1999 Aug;126(15):3347-57.

17.

The BMP ligand Gdf6 prevents differentiation of coronal suture mesenchyme in early cranial development.

Clendenning DE, Mortlock DP.

PLoS One. 2012;7(5):e36789. doi: 10.1371/journal.pone.0036789.

18.

Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes.

Settle SH Jr, Rountree RB, Sinha A, Thacker A, Higgins K, Kingsley DM.

Dev Biol. 2003 Feb 1;254(1):116-30.

19.

Sexual dimorphism in the effect of GDF-6 deficiency on murine tendon.

Mikic B, Rossmeier K, Bierwert L.

J Orthop Res. 2009 Dec;27(12):1603-11. doi: 10.1002/jor.20916.

20.

Reverse genetic screening reveals poor correlation between morpholino-induced and mutant phenotypes in zebrafish.

Kok FO, Shin M, Ni CW, Gupta A, Grosse AS, van Impel A, Kirchmaier BC, Peterson-Maduro J, Kourkoulis G, Male I, DeSantis DF, Sheppard-Tindell S, Ebarasi L, Betsholtz C, Schulte-Merker S, Wolfe SA, Lawson ND.

Dev Cell. 2015 Jan 12;32(1):97-108. doi: 10.1016/j.devcel.2014.11.018.

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