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Items: 1 to 20 of 229

1.

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, Guerrot AM, Flahaut P, Duncombe A, Baujat G, Lyonnet S, Thalassinos C, Nitschke P, Casanova JL, Le Merrer M, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2012 Apr 6;90(4):740-5. doi: 10.1016/j.ajhg.2012.03.003. Epub 2012 Mar 29.

2.

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.

J Clin Endocrinol Metab. 2012 Dec;97(12):E2328-38. doi: 10.1210/jc.2012-2326. Epub 2012 Oct 5.

PMID:
23043190
3.

PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.

Nagasaki K, Iida T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M.

J Clin Endocrinol Metab. 2012 Sep;97(9):E1808-13. doi: 10.1210/jc.2012-1369. Epub 2012 Jun 20.

PMID:
22723333
4.

Exome sequencing identifies PDE4D mutations in acrodysostosis.

Lee H, Graham JM Jr, Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, Cohn DH.

Am J Hum Genet. 2012 Apr 6;90(4):746-51. doi: 10.1016/j.ajhg.2012.03.004. Epub 2012 Mar 29.

5.

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

Lynch DC, Dyment DA, Huang L, Nikkel SM, Lacombe D, Campeau PM, Lee B, Bacino CA, Michaud JL, Bernier FP; FORGE Canada Consortium, Parboosingh JS, Innes AM.

Hum Mutat. 2013 Jan;34(1):97-102. doi: 10.1002/humu.22222. Epub 2012 Nov 9. Erratum in: Hum Mutat. 2013 Apr;34(4):667.

PMID:
23033274
6.

The first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosis.

Li N, Nie M, Li M, Jiang Y, Xing X, Wang O, Li C, Xia W.

Int J Mol Sci. 2014 Jul 29;15(8):13267-74. doi: 10.3390/ijms150813267.

7.

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.

J Clin Res Pediatr Endocrinol. 2017 Dec 15;9(4):360-365. doi: 10.4274/jcrpe.4488. Epub 2017 May 17.

8.

Novel mutations of the PRKAR1A gene in patients with acrodysostosis.

Muhn F, Klopocki E, Graul-Neumann L, Uhrig S, Colley A, Castori M, Lankes E, Henn W, Gruber-Sedlmayr U, Seifert W, Horn D.

Clin Genet. 2013 Dec;84(6):531-8. doi: 10.1111/cge.12106. Epub 2013 Feb 21.

PMID:
23425300
9.

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.

Kaname T, Ki CS, Niikawa N, Baillie GS, Day JP, Yamamura K, Ohta T, Nishimura G, Mastuura N, Kim OH, Sohn YB, Kim HW, Cho SY, Ko AR, Lee JY, Kim HW, Ryu SH, Rhee H, Yang KS, Joo K, Lee J, Kim CH, Cho KH, Kim D, Yanagi K, Naritomi K, Yoshiura K, Kondoh T, Nii E, Tonoki H, Houslay MD, Jin DK.

Cell Signal. 2014 Nov;26(11):2446-59. doi: 10.1016/j.cellsig.2014.07.025. Epub 2014 Jul 24.

PMID:
25064455
10.

[Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance].

Silve C.

Biol Aujourdhui. 2016;210(3):167-170. Epub 2016 Nov 4. Review. French.

PMID:
27813477
11.

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid BM, Kant SG, Ruivenkamp CA, Gustavsson P, Valta H, Geiberger S, Topa A, Lagerstedt-Robinson K, Taylan F, Wincent J, Laurell T, Pekkinen M, Nordenskjöld M, Mäkitie O, Nordgren A.

J Med Genet. 2014 Jan;51(1):45-54. doi: 10.1136/jmedgenet-2013-101937. Epub 2013 Nov 7.

PMID:
24203977
12.

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.

N Engl J Med. 2011 Jun 9;364(23):2218-26. doi: 10.1056/NEJMoa1012717.

13.

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.

J Biol Chem. 2015 Nov 13;290(46):27816-28. doi: 10.1074/jbc.M115.656553. Epub 2015 Sep 24.

14.

Acrodysostosis.

Silve C, Clauser E, Linglart A.

Horm Metab Res. 2012 Sep;44(10):749-58. doi: 10.1055/s-0032-1316330. Epub 2012 Jul 19. Review.

PMID:
22815067
15.

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.

J Bone Miner Res. 2017 Feb;32(2):333-346. doi: 10.1002/jbmr.2987. Epub 2016 Oct 24.

16.

Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.

Mitsui T, Kim OH, Hall CM, Offiah A, Johnson D, Jin DK, Toh TH, Soneda S, Keino D, Matsubayashi S, Ishii T, Nishimura G, Hasegawa T.

Am J Med Genet A. 2014 Oct;164A(10):2529-34. doi: 10.1002/ajmg.a.36669. Epub 2014 Jul 10.

PMID:
25044890
17.

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.

Hum Mol Genet. 2017 Oct 15;26(20):3883-3894. doi: 10.1093/hmg/ddx271.

PMID:
29016851
18.

One single signaling pathway for so many different biological functions: lessons from the cyclic adenosine monophosphate/protein kinase A pathway-related diseases.

Assié G.

J Clin Endocrinol Metab. 2012 Dec;97(12):4355-7. doi: 10.1210/jc.2012-3659. No abstract available.

PMID:
23223481
19.

Structure of a PKA RIα Recurrent Acrodysostosis Mutant Explains Defective cAMP-Dependent Activation.

Bruystens JG, Wu J, Fortezzo A, Del Rio J, Nielsen C, Blumenthal DK, Rock R, Stefan E, Taylor SS.

J Mol Biol. 2016 Dec 4;428(24 Pt B):4890-4904. doi: 10.1016/j.jmb.2016.10.033. Epub 2016 Nov 5.

20.

Diagnostic exome sequencing in persons with severe intellectual disability.

de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE.

N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3.

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