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Items: 1 to 20 of 104

1.

The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion.

Zeniou-Meyer M, Gambino F, Ammar MR, Humeau Y, Vitale N.

Cell Mol Neurobiol. 2010 Nov;30(8):1401-6. doi: 10.1007/s10571-010-9578-9. Review.

PMID:
21061166
2.

Deletion of the Coffin-Lowry syndrome gene Rsk2 in mice is associated with impaired spatial learning and reduced control of exploratory behavior.

Poirier R, Jacquot S, Vaillend C, Soutthiphong AA, Libbey M, Davis S, Laroche S, Hanauer A, Welzl H, Lipp HP, Wolfer DP.

Behav Genet. 2007 Jan;37(1):31-50. Epub 2006 Oct 11.

PMID:
17033934
3.

Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin-Lowry syndrome.

Mehmood T, Schneider A, Sibille J, Marques Pereira P, Pannetier S, Ammar MR, Dembele D, Thibault-Carpentier C, Rouach N, Hanauer A.

Hum Genet. 2011 Mar;129(3):255-69. doi: 10.1007/s00439-010-0918-0. Epub 2010 Nov 30. Erratum in: Hum Genet. 2011 Mar;129(3):271. Sibillec, Jérémie [corrected to Sibille, Jérémie].

PMID:
21116650
4.

Defective synaptic transmission and structure in the dentate gyrus and selective fear memory impairment in the Rsk2 mutant mouse model of Coffin-Lowry syndrome.

Morice E, Farley S, Poirier R, Dallerac G, Chagneau C, Pannetier S, Hanauer A, Davis S, Vaillend C, Laroche S.

Neurobiol Dis. 2013 Oct;58:156-68. doi: 10.1016/j.nbd.2013.05.016. Epub 2013 Jun 3.

PMID:
23742761
5.

The Coffin-Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1.

Zeniou-Meyer M, Liu Y, Béglé A, Olanich ME, Hanauer A, Becherer U, Rettig J, Bader MF, Vitale N.

Proc Natl Acad Sci U S A. 2008 Jun 17;105(24):8434-9. doi: 10.1073/pnas.0710676105. Epub 2008 Jun 11. Erratum in: Proc Natl Acad Sci U S A. 2009 May 19;106(20):8398. Olanish, Mary [corrected to Olanich, Mary E].

6.

Coffin-Lowry syndrome.

Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A.

Eur J Hum Genet. 2010 Jun;18(6):627-33. doi: 10.1038/ejhg.2009.189. Epub 2009 Nov 4. Review.

7.

Loss of the Coffin-Lowry syndrome-associated gene RSK2 alters ERK activity, synaptic function and axonal transport in Drosophila motoneurons.

Beck K, Ehmann N, Andlauer TF, Ljaschenko D, Strecker K, Fischer M, Kittel RJ, Raabe T.

Dis Model Mech. 2015 Nov;8(11):1389-400. doi: 10.1242/dmm.021246. Epub 2015 Sep 3.

8.

Altered ERK/MAPK signaling in the hippocampus of the mrsk2_KO mouse model of Coffin-Lowry syndrome.

Schneider A, Mehmood T, Pannetier S, Hanauer A.

J Neurochem. 2011 Nov;119(3):447-59. doi: 10.1111/j.1471-4159.2011.07423.x. Epub 2011 Sep 28.

9.

Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

Delaunoy JP, Dubos A, Marques Pereira P, Hanauer A.

Clin Genet. 2006 Aug;70(2):161-6.

PMID:
16879200
10.

The Coffin-Lowry syndrome-associated protein RSK2 regulates neurite outgrowth through phosphorylation of phospholipase D1 (PLD1) and synthesis of phosphatidic acid.

Ammar MR, Humeau Y, Hanauer A, Nieswandt B, Bader MF, Vitale N.

J Neurosci. 2013 Dec 11;33(50):19470-9. doi: 10.1523/JNEUROSCI.2283-13.2013.

11.

The Coffin-Lowry syndrome-associated protein RSK2 controls neuroendocrine secretion through the regulation of phospholipase D1 at the exocytotic sites.

Zeniou-Meyer M, Béglé A, Bader MF, Vitale N.

Ann N Y Acad Sci. 2009 Jan;1152:201-8. doi: 10.1111/j.1749-6632.2008.04001.x.

PMID:
19161391
13.

Coffin-Lowry syndrome: a role for RSK2 in mammalian neurogenesis.

Dugani CB, Paquin A, Kaplan DR, Miller FD.

Dev Biol. 2010 Nov 15;347(2):348-59. doi: 10.1016/j.ydbio.2010.08.035. Epub 2010 Sep 8.

14.

A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome.

Wang Y, Martinez JE, Wilson GL, He XY, Tuck-Muller CM, Maertens P, Wertelecki W, Chen TJ.

Am J Med Genet A. 2006 Jun 15;140(12):1274-9.

PMID:
16691578
15.

The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.

Nishimoto HK, Ha K, Jones JR, Dwivedi A, Cho HM, Layman LC, Kim HG.

Am J Med Genet A. 2014 Sep;164A(9):2172-9. doi: 10.1002/ajmg.a.36488. Epub 2014 Jul 7.

PMID:
25044551
16.

Rsk2 Knockout Affects Emotional Behavior in the IntelliCage.

Fischer M, Cabello V, Popp S, Krackow S, Hommers L, Deckert J, Lesch KP, Schmitt-Böhrer AG.

Behav Genet. 2017 Jul;47(4):434-448. doi: 10.1007/s10519-017-9853-3. Epub 2017 Jun 6.

PMID:
28585192
17.

The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient.

Marques Pereira P, Heron D, Hanauer A.

Hum Genet. 2007 Dec;122(5):541-3. Epub 2007 Aug 24.

PMID:
17717706
18.
19.

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.

Zeniou M, Pannetier S, Fryns JP, Hanauer A.

Am J Hum Genet. 2002 Jun;70(6):1421-33. Epub 2002 Apr 25.

20.

Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation.

Koehne T, Jeschke A, Petermann F, Seitz S, Neven M, Peters S, Luther J, Schweizer M, Schinke T, Kahl-Nieke B, Amling M, David JP.

J Dent Res. 2016 Jul;95(7):752-60. doi: 10.1177/0022034516634329. Epub 2016 Feb 29.

PMID:
26927527

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