Silve C - Search Results

1

Modulation of signaling through GPCR-cAMP-PKA pathways by PDE4 depends on stimulus intensity: Possible implications for the pathogenesis of acrodysostosis without hormone resistance.

Motte E, Le Stunff C, Briet C, Dumaz N, Silve C. Motte E, et al. Among authors: silve c. Mol Cell Endocrinol. 2017 Feb 15;442:1-11. doi: 10.1016/j.mce.2016.11.026. Epub 2016 Nov 28. Mol Cell Endocrinol. 2017. PMID: 27908835

2

Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis.

Le Stunff C, Tilotta F, Sadoine J, Le Denmat D, Briet C, Motte E, Clauser E, Bougnères P, Chaussain C, Silve C. Le Stunff C, et al. Among authors: silve c. J Bone Miner Res. 2017 Feb;32(2):333-346. doi: 10.1002/jbmr.2987. Epub 2016 Oct 24. J Bone Miner Res. 2017. PMID: 27589370 Free article.

3

Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3.

Briet C, Pereda A, Le Stunff C, Motte E, de Dios Garcia-Diaz J, de Nanclares GP, Dumaz N, Silve C. Briet C, et al. Among authors: silve c. Hum Mol Genet. 2017 Oct 15;26(20):3883-3894. doi: 10.1093/hmg/ddx271. Hum Mol Genet. 2017. PMID: 29016851

4

Acrodysostosis syndromes.

Silve C, Le-Stunff C, Motte E, Gunes Y, Linglart A, Clauser E. Silve C, et al. Bonekey Rep. 2012 Nov 21;1:225. doi: 10.1038/bonekey.2012.225. Bonekey Rep. 2012. PMID: 24363928 Free PMC article. Review.

5

Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance.

Linglart A, Menguy C, Couvineau A, Auzan C, Gunes Y, Cancel M, Motte E, Pinto G, Chanson P, Bougnères P, Clauser E, Silve C. Linglart A, et al. Among authors: silve c. N Engl J Med. 2011 Jun 9;364(23):2218-26. doi: 10.1056/NEJMoa1012717. N Engl J Med. 2011. PMID: 21651393 Free article.

6

Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.

Rhayem Y, Le Stunff C, Abdel Khalek W, Auzan C, Bertherat J, Linglart A, Couvineau A, Silve C, Clauser E. Rhayem Y, et al. Among authors: silve c. J Biol Chem. 2015 Nov 13;290(46):27816-28. doi: 10.1074/jbc.M115.656553. Epub 2015 Sep 24. J Biol Chem. 2015. PMID: 26405036 Free PMC article.

7

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

Linglart A, Fryssira H, Hiort O, Holterhus PM, Perez de Nanclares G, Argente J, Heinrichs C, Kuechler A, Mantovani G, Leheup B, Wicart P, Chassot V, Schmidt D, Rubio-Cabezas Ó, Richter-Unruh A, Berrade S, Pereda A, Boros E, Muñoz-Calvo MT, Castori M, Gunes Y, Bertrand G, Bougnères P, Clauser E, Silve C. Linglart A, et al. Among authors: silve c. J Clin Endocrinol Metab. 2012 Dec;97(12):E2328-38. doi: 10.1210/jc.2012-2326. Epub 2012 Oct 5. J Clin Endocrinol Metab. 2012. PMID: 23043190 Clinical Trial.

8

Methylation and transcripts expression at the imprinted GNAS locus in human embryonic and induced pluripotent stem cells and their derivatives.

Grybek V, Aubry L, Maupetit-Méhouas S, Le Stunff C, Denis C, Girard M, Linglart A, Silve C. Grybek V, et al. Among authors: silve c. Stem Cell Reports. 2014 Sep 9;3(3):432-43. doi: 10.1016/j.stemcr.2014.07.002. Epub 2014 Aug 7. Stem Cell Reports. 2014. PMID: 25241742 Free PMC article.

9

Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation.

Hoppmann J, Gesing J, Silve C, Leroy C, Bertsche A, Hirsch FW, Kiess W, Pfäffle R, Schuster V. Hoppmann J, et al. Among authors: silve c. J Clin Res Pediatr Endocrinol. 2017 Dec 15;9(4):360-365. doi: 10.4274/jcrpe.4488. Epub 2017 May 17. J Clin Res Pediatr Endocrinol. 2017. PMID: 28515031 Free PMC article.

10

Acrodysostosis.

Silve C, Clauser E, Linglart A. Silve C, et al. Horm Metab Res. 2012 Sep;44(10):749-58. doi: 10.1055/s-0032-1316330. Epub 2012 Jul 19. Horm Metab Res. 2012. PMID: 22815067 Review.

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