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Items: 13

Select item 69550221.

Roles and regulation of SOX transcription factors in skeletogenesis

Véronique Lefebvre

Curr Top Dev Biol. Author manuscript; available in PMC 2020 Jan 12.

Published in final edited form as: Curr Top Dev Biol. 2019; 133: 171–193. Published online 2019 Feb 26. doi: 10.1016/bs.ctdb.2019.01.007

PMCID:: PMC6955022

Abstract Article PDF–998K

Select item 64656592.

Identifying pathogenic variants in the Follistatin‐like 1 gene (FSTL1) in patients with skeletal and atrioventricular valve disorders

Stuti Prakash, Andrea Mattiotti, Marc Sylva, Barbara J. M. Mulder, Alex V. Postma, Maurice J. B. van den Hoff

Mol Genet Genomic Med. 2019 Apr; 7(4): e00567. Published online 2019 Feb 5. doi: 10.1002/mgg3.567

PMCID:: PMC6465659

Abstract Article PDF–443K

Select item 45109933.

Construction and characterization of a sox9b transgenic reporter line

Jessica S. Plavicki, Tracie. R. Baker, Felipe R. Burns, Kong M. Xiong, Alex J. Gooding, Peter Hofsteen, Richard E. Peterson, Warren Heideman

Int J Dev Biol. Author manuscript; available in PMC 2015 Jul 22.

Published in final edited form as: Int J Dev Biol. 2014; 58(9): 693–699. doi: 10.1387/ijdb.140288jp

PMCID:: PMC4510993

Abstract Article PDF–4.2M

Select item 36588994.

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia

Ana Carolina S Fonseca, Adriano Bonaldi, Débora R Bertola, Chong A Kim, Paulo A Otto, Angela M Vianna-Morgante

BMC Med Genet. 2013; 14: 50. Published online 2013 May 7. doi: 10.1186/1471-2350-14-50

PMCID:: PMC3658899

Abstract Article PDF–1.4M

Select item 33549165.

Unraveling the transcriptional regulatory machinery in chondrogenesis

Haruhiko Akiyama, Véronique Lefebvre

J Bone Miner Metab. Author manuscript; available in PMC 2012 May 17.

Published in final edited form as: J Bone Miner Metab. 2011 Jul; 29(4): 390–395. Published online 2011 May 19. doi: 10.1007/s00774-011-0273-9

PMCID:: PMC3354916

Abstract Article PDF–288K

Select item 30790546.

Sox9 function in craniofacial development and disease

Young-Hoon Lee, Jean-Pierre Saint-Jeannet

Genesis. Author manuscript; available in PMC 2012 Apr 1.

Published in final edited form as: Genesis. 2011 Apr; 49(4): 200–208. Published online 2011 Apr 1. doi: 10.1002/dvg.20717

PMCID:: PMC3079054

Abstract Article PDF–243K

Select item 17481677.

Dominance of SOX9 function over RUNX2 during skeletogenesis

Guang Zhou, Qiping Zheng, Feyza Engin, Elda Munivez, Yuqing Chen, Eiman Sebald, Deborah Krakow, Brendan Lee

Proc Natl Acad Sci U S A. 2006 Dec 12; 103(50): 19004–19009. Published online 2006 Dec 1. doi: 10.1073/pnas.0605170103

PMCID:: PMC1748167

Abstract Article PDF–2.4M

Select item 15232018.

A zebrafish screen for craniofacial mutants identifies wdr68 as a highly conserved gene required for endothelin-1 expression

Robert M Nissen, Adam Amsterdam, Nancy Hopkins

BMC Dev Biol. 2006; 6: 28. Published online 2006 Jun 7. doi: 10.1186/1471-213X-6-28

PMCID:: PMC1523201

Abstract Article PDF–1.7M

Select item 11993039.

Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia

Katherine L. Hill-Harfe, Lee Kaplan, Heather J. Stalker, Roberto T. Zori, Ramona Pop, Gerd Scherer, Margaret R. Wallace

Am J Hum Genet. 2005 Apr; 76(4): 663–671. Published online 2005 Feb 16. doi: 10.1086/429254

PMCID:: PMC1199303

Abstract Article PDF–171K

Select item 119930210.

Position Effects Due to Chromosome Breakpoints that Map ∼900 Kb Upstream and ∼1.3 Mb Downstream of SOX9 in Two Patients with Campomelic Dysplasia

Gopalrao V. N. Velagaleti, Gabriel A. Bien-Willner, Jill K. Northup, Lillian H. Lockhart, Judy C. Hawkins, Syed M. Jalal, Marjorie Withers, James R. Lupski, Pawel Stankiewicz

Am J Hum Genet. 2005 Apr; 76(4): 652–662. Published online 2005 Feb 22. doi: 10.1086/429252

PMCID:: PMC1199302

Abstract Article PDF–896K

Select item 105137211.

Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.

R Savarirayan, A Bankier

J Med Genet. 1998 Jul; 35(7): 597–599. doi: 10.1136/jmg.35.7.597

PMCID:: PMC1051372

Summary Page Browse PDF–831K

Select item 23208212.

SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen gene.

V Lefebvre, W Huang, V R Harley, P N Goodfellow, B de Crombrugghe

Mol Cell Biol. 1997 Apr; 17(4): 2336–2346. doi: 10.1128/mcb.17.4.2336

PMCID:: PMC232082

Summary PDF–1.4M

Select item 11103713.

Cloning and characterisation of the Sry-related transcription factor gene Sox8

Goslik E. Schepers, Monica Bullejos, Brett M. Hosking, Peter Koopman

Nucleic Acids Res. 2000 Mar 15; 28(6): 1473–1480. doi: 10.1093/nar/28.6.1473

PMCID:: PMC111037

Abstract Article PDF–813K

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FAD-dependent oxidoreductase [Agrilactobacillus composti]
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gi|737474064|ref|WP_035453946.1|

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alginate lyase family protein [Agrilactobacillus composti]
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