Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 179

1.

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.

Aza-Carmona M, Shears DJ, Yuste-Checa P, Barca-Tierno V, Hisado-Oliva A, Belinchón A, Benito-Sanz S, Rodríguez JI, Argente J, Campos-Barros A, Scambler PJ, Heath KE.

Hum Mol Genet. 2011 Apr 15;20(8):1547-59. doi: 10.1093/hmg/ddr032. Epub 2011 Jan 24.

PMID:
21262861
2.

NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.

Aza-Carmona M, Barca-Tierno V, Hisado-Oliva A, Belinchón A, Gorbenko-del Blanco D, Rodriguez JI, Benito-Sanz S, Campos-Barros A, Heath KE.

PLoS One. 2014 Jan 8;9(1):e83104. doi: 10.1371/journal.pone.0083104. eCollection 2014.

3.

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.

Benito-Sanz S, Royo JL, Barroso E, Paumard-Hernández B, Barreda-Bonis AC, Liu P, Gracía R, Lupski JR, Campos-Barros Á, Gómez-Skarmeta JL, Heath KE.

J Med Genet. 2012 Jul;49(7):442-50. doi: 10.1136/jmedgenet-2011-100678.

PMID:
22791839
4.

FGFR3 is a target of the homeobox transcription factor SHOX in limb development.

Decker E, Durand C, Bender S, Rödelsperger C, Glaser A, Hecht J, Schneider KU, Rappold G.

Hum Mol Genet. 2011 Apr 15;20(8):1524-35. doi: 10.1093/hmg/ddr030. Epub 2011 Jan 27.

PMID:
21273290
5.

Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.

Schneider KU, Marchini A, Sabherwal N, Röth R, Niesler B, Marttila T, Blaschke RJ, Lawson M, Dumic M, Rappold G.

Hum Mutat. 2005 Jul;26(1):44-52.

PMID:
15931687
6.

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

Benito-Sanz S, Thomas NS, Huber C, Gorbenko del Blanco D, Aza-Carmona M, Crolla JA, Maloney V, Rappold G, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE.

Am J Hum Genet. 2005 Oct;77(4):533-44. Epub 2005 Aug 15. Erratum in: Am J Hum Genet. 2005 Dec;77(6):1131. Huber, Celine [corrected to Huber, Céline]; Del Blanco, Darya Gorbenko [corrected to Gorbenko del Blanco, Darya]; Rappold, Gudrun [added]; Argente, Jesus [corrected to Argente, Jesús]; Cormier-Daire, Valerie [corrected to Cormier-Daire, Valrie].

7.

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.

Benito-Sanz S, Aza-Carmona M, Rodríguez-Estevez A, Rica-Etxebarria I, Gracia R, Campos-Barros A, Heath KE.

Eur J Hum Genet. 2012 Jan;20(1):125-7. doi: 10.1038/ejhg.2011.210. Epub 2011 Nov 9.

8.

L-Sox5 and Sox6 drive expression of the aggrecan gene in cartilage by securing binding of Sox9 to a far-upstream enhancer.

Han Y, Lefebvre V.

Mol Cell Biol. 2008 Aug;28(16):4999-5013. doi: 10.1128/MCB.00695-08. Epub 2008 Jun 16.

9.

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.

Jorge AA, Souza SC, Nishi MY, Billerbeck AE, Libório DC, Kim CA, Arnhold IJ, Mendonca BB.

Clin Endocrinol (Oxf). 2007 Jan;66(1):130-5.

PMID:
17201812
10.

[From gene to disease; from SHOX to Lèri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature].

Kant SG, Drop SL.

Ned Tijdschr Geneeskd. 2001 Jul 28;145(30):1456-9. Review. Dutch.

PMID:
11503314
11.

The transcription factors SOX9 and SOX5/SOX6 cooperate genome-wide through super-enhancers to drive chondrogenesis.

Liu CF, Lefebvre V.

Nucleic Acids Res. 2015 Sep 30;43(17):8183-203. doi: 10.1093/nar/gkv688. Epub 2015 Jul 6.

12.

Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment.

Jorge AA, Funari MF, Nishi MY, Mendonca BB.

Pediatr Endocrinol Rev. 2010 Dec;8(2):79-85. Review.

PMID:
21150837
13.

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.

Hirschfeldova K, Solc R, Baxova A, Zapletalova J, Kebrdlova V, Gaillyova R, Prasilova S, Soukalova J, Mihalova R, Lnenicka P, Florianova M, Stekrova J.

Gene. 2012 Jan 10;491(2):123-7. doi: 10.1016/j.gene.2011.10.011. Epub 2011 Oct 14.

PMID:
22020182
14.

Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome.

Sabherwal N, Schneider KU, Blaschke RJ, Marchini A, Rappold G.

J Cell Sci. 2004 Jun 15;117(Pt 14):3041-8. Epub 2004 Jun 1.

15.

PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.

Benito-Sanz S, del Blanco DG, Aza-Carmona M, Magano LF, Lapunzina P, Argente J, Campos-Barros A, Heath KE.

Hum Mutat. 2006 Oct;27(10):1062.

PMID:
16941489
16.

Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis.

Rodríguez FA, Unanue N, Hernandez MI, Basaure J, Heath KE, Cassorla F.

J Pediatr Endocrinol Metab. 2013;26(7-8):729-34. doi: 10.1515/jpem-2013-0023.

PMID:
23729538
17.

Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

Benito-Sanz S, Barroso E, Heine-Suñer D, Hisado-Oliva A, Romanelli V, Rosell J, Aragones A, Caimari M, Argente J, Ross JL, Zinn AR, Gracia R, Lapunzina P, Campos-Barros A, Heath KE.

J Clin Endocrinol Metab. 2011 Feb;96(2):E404-12. doi: 10.1210/jc.2010-1689. Epub 2010 Dec 8.

PMID:
21147883
18.

Different approaches in the molecular analysis of the SHOX gene dysfunctions.

Stuppia L, Gatta V, Antonucci I, Giuliani R, Palka G.

J Endocrinol Invest. 2010 Jun;33(6 Suppl):30-3.

PMID:
21057183
19.

The SHOX region and its mutations.

Capone L, Iughetti L, Sabatini S, Bacciaglia A, Forabosco A.

J Endocrinol Invest. 2010 Jun;33(6 Suppl):11-4.

PMID:
21057179
20.

Complete SHOX deficiency causes Langer mesomelic dysplasia.

Zinn AR, Wei F, Zhang L, Elder FF, Scott CI Jr, Marttila P, Ross JL.

Am J Med Genet. 2002 Jun 15;110(2):158-63.

PMID:
12116254

Supplemental Content

Support Center