1 | GDF6
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| Bone morphogenetic protein 13 in hepatic stellate cells and hepatic fibrosis.
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| Peschl V, Seitz T, Sommer J, Thasler W, Bosserhoff A, Hellerbrand C.
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| J Cell Biochem. Oct;123(10):1544-1552. doi: 10.1002/jcb.30248. Epub 2022 Apr 20 2022
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2 | DFNB118, GDF6
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| Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.
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| Bademci G, Abad C, Cengiz FB, Seyhan S, Incesulu A, Guo S, Fitoz S, Atli EI, Gosstola NC, Demir S, Colbert BM, Seyhan GC, Sineni CJ, Duman D, Gurkan H, Morton CC, Dykxhoorn DM, Walz K, Tekin M.
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| J Clin Invest. Aug 3;130(8):4213-4217. doi: 10.1172/JCI136951. 2020
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3 | GDF6
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| Regenerative Response of Degenerate Human Nucleus Pulposus Cells to GDF6 Stimulation
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| Hodgkinson T, Gilbert HTJ, Pandya T, Diwan AD, Hoyland JA, Richardson SM.
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| Int J Mol Sci. Sep 27;21(19):7143. doi: 10.3390/ijms21197143. 2020
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4 | GDF6, SYNS4
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| A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss.
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| Drage Berentsen R, Haukanes BI, Júlíusson PB, Rosendahl K, Houge G.
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| Mol Syndromol. Jan;9(5):228-234. doi: 10.1159/000492418. Epub 2018 Aug 15. 2019
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5 | GDF6, SYNS4
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| Further delineation of the GDF6 related multiple synostoses syndrome
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| Terhal PA, Verbeek NE, Knoers N, Nievelstein RJAJ, van den Ouweland A, Sakkers RJ, Speleman L, van Haaften G.
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| Am J Med Genet A. Jan;176(1):225-229. doi: 10.1002/ajmg.a.38503. Epub 2017 Nov 12. 2018
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6 | GDF6, MITF, SOX9
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| Ligand-activated BMP signaling inhibits cell differentiation and death to promote melanoma.
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| Venkatesan AM, Vyas R, Gramann AK, Dresser K, Gujja S, Bhatnagar S, Chhangawala S, Gomes CBF, Xi HS, Lian CG, Houvras Y, Edwards YJK, Deng A, Green M, Ceol CJ.
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| J Clin Invest. Jan 2;128(1):294-308. doi: 10.1172/JCI92513. Epub 2017 Dec 4 2018
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7 | GDF6, ROR2
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| Ror2 signaling is required for local upregulation of GFD6 and activation of BMP signaling at the neural plate border.
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| Schille C, Bayerlová M, Bleckmann A, Schambony A.
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| Development 143(17):3182-94. doi: 10.1242/dev.135426.
2016
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8 | GDF6
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| Expression of growth differentiation factor 6 in the human developing fetal spine retreats from vertebral ossifying regions and is restricted to cartilaginous tissues.
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| Wei A, Shen B, Williams LA, Bhargav D, Gulati T, Fang Z, Pathmanandavel S, Diwan AD.
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| J Orthop Res 34(2):279-89. doi: 10.1002/jor.22983. Epub 2015 Aug 6.
2016
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9 | GDF6, MCOP4
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| Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.
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| Huang X, Xiao X, Jia X, Li S, Li M, Guo X, Liu X, Zhang Q.
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| Int J Mol Med 36(4):1111-7. doi: 10.3892/ijmm.2015.2325. Epub 2015 Aug 24.
2015
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10 | GDF6, SDC2
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| Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.
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| Banka S, Cain SA, Carim S, Daly SB, Urquhart JE, Erdem G, Harris J, Bottomley M, Donnai D, Kerr B, Kingston H, Superti-Furga A, Unger S, Ennis H, Worthington J, Herrick AL, Merry CL, Yue WW, Kielty CM, Newman WG.
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| Ann Rheum Dis 74(6):1249-56. doi: 10.1136/annrheumdis-2013-204309. Epub 2014 Jan 17.
2015
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11 | GDF6, LCA17
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| Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.
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| 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.
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| Hum Mol Genet 22(7):1432-42. doi: 10.1093/hmg/dds560. Epub 2013 Jan 9.
2013
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12 | GDF6
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| Gdf6 induces commitment of pluripotent mesenchymal C3H10T1/2 cells to the adipocyte lineage.
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| Wang SS, Huang HY, Chen SZ, Li X, Zhang WT, Tang QQ.
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| FEBS J 280(11):2644-51. doi: 10.1111/febs.12256. Epub 2013 Apr 19.
2013
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13 | GDF6
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| The BMP ligand Gdf6 prevents differentiation of coronal suture mesenchyme in early cranial development.
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| Clendenning DE, Mortlock DP.
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| PLoS One 7(5):e36789. doi: 10.1371/journal.pone.0036789. Epub 2012 May 31.
2012
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14 | GDF6, KFS1
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| Klippel-Feil syndrome associated with situs inversus: description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes.
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| Chacón-Camacho O, Camarillo-Blancarte L, Pelaez-González H, Mendiola J, Zenteno JC.
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| Eur J Med Genet 55(6-7):414-7. doi: 10.1016/j.ejmg.2012.03.007. Epub 2012 Mar 28.
2012
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15 | GDF3, GDF6, KFS1, KFS3
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| Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
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| 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.
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| Hum Mol Genet 19(2):287-98. Epub 2009 Oct 28.PMID: 19864492 2010
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16 | GDF6, SCDO5
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| Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG.
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| Gucev ZS, Tasic V, Pop-Jordanova N, Sparrow DB, Dunwoodie SL, Ellard S, Young E, Turnpenny PD.
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| Am J Med Genet A 152A(6):1378-82.
2010
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17 | GDF6, MCOP4
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| Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
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| 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.
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| Hum Mol Genet 18(6):1110-21. doi: 10.1093/hmg/ddp008. Epub 2009 Jan 6.
2009
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18 | GDF6, KFS1
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| Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
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| 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.
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| Hum Mutat 29(8):1017-27.
2008
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19 | DEL8QV, GDF6
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| GDF6, a Novel Locus for a Spectrum of Ocular Developmental Anomalies.
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| Asai-Coakwell M, French CR, Berry KM, Ye M, Koss R, Somerville M, Mueller R, van Heyningen V, Waskiewicz AJ, Lehmann OJ.
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| Am J Hum Genet 80(2):306-15. Epub 2006 Dec 29. 2007
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20 | GDF6
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| Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer.
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| Portnoy ME, McDermott KJ, Antonellis A, Margulies EH, Prasad AB, Kingsley DM, Green ED, Mortlock DP; NISC Comparative Sequencing Program.
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| Genomics 86(3):295-305. 2005
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21 | GDF6
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| Comparative sequence analysis of the Gdf6 locus reveals a duplicon-mediated chromosomal rearrangement in rodents and rapidly diverging coding and regulatory sequences.
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| Mortlock DP, Portnoy ME, Chandler RL, Green ED; NISC Comparative Sequencing Program.
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| Genomics 84(5):814-23. 2004
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22 | GDF5, GDF6
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| Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes.
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| Settle SH Jr, Rountree RB, Sinha A, Thacker A, Higgins K, Kingsley DM.
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| Dev Biol 254(1):116-30. 2003
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