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Results: 1 to 20 of 56

1.

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.

PMID:
24336713
[PubMed - indexed for MEDLINE]
Free Article
2.

Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

Rojnueangnit K, Jones JR, Basehore MJ, Robin NH.

Am J Med Genet A. 2014 Feb;164A(2):516-21. doi: 10.1002/ajmg.a.36299. Epub 2013 Dec 5.

PMID:
24311527
[PubMed - in process]
3.

Ribosomal S6 Kinase 2 (RSK2) maintains genomic stability by activating the Atm/p53-dependent DNA damage pathway.

Lim HC, Xie L, Zhang W, Li R, Chen ZC, Wu GZ, Cui SS, Tan EK, Zeng L.

PLoS One. 2013 Sep 23;8(9):e74334. doi: 10.1371/journal.pone.0074334. eCollection 2013.

PMID:
24086335
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities.

Matsumoto A, Kuwajima M, Miyake K, Kojima K, Nakashima N, Jimbo EF, Kubota T, Momoi MY, Yamagata T.

J Hum Genet. 2013 Nov;58(11):755-7. doi: 10.1038/jhg.2013.88. Epub 2013 Aug 29.

PMID:
23985797
[PubMed - indexed for MEDLINE]
5.

Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome.

Schneider A, Maas SM, Hennekam RC, Hanauer A.

Eur J Med Genet. 2013 Mar;56(3):150-2. doi: 10.1016/j.ejmg.2012.11.007. Epub 2012 Dec 20.

PMID:
23261961
[PubMed - indexed for MEDLINE]
6.

Stimulus-induced drop episodes in Coffin-Lowry syndrome.

Hahn JS, Hanauer A.

Eur J Med Genet. 2012 May;55(5):335-7. doi: 10.1016/j.ejmg.2012.03.004. Epub 2012 Mar 21. Review.

PMID:
22490425
[PubMed - indexed for MEDLINE]
7.

Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern.

Martinez HR, Niu MC, Sutton VR, Pignatelli R, Vatta M, Jefferies JL.

Am J Med Genet A. 2011 Dec;155A(12):3030-4. doi: 10.1002/ajmg.a.33856. Epub 2011 Oct 18.

PMID:
22009732
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
19888300
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
[PubMed - indexed for MEDLINE]
11.

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].

PMID:
18550821
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Treatment of drop attacks in Coffin-Lowry syndrome with the use of sodium oxybate.

Havaligi N, Matadeen-Ali C, Khurana DS, Marks H, Kothare SV.

Pediatr Neurol. 2007 Nov;37(5):373-4.

PMID:
17950427
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome.

Micheli V, Sestini S, Parri V, Fichera M, Romano C, Ariani F, Longo I, Mari F, Bruttini M, Renieri A, Meloni I.

Clin Chim Acta. 2007 Sep;384(1-2):35-40. Epub 2007 May 26.

PMID:
17586481
[PubMed - indexed for MEDLINE]
15.

Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.

Kesler SR, Simensen RJ, Voeller K, Abidi F, Stevenson RE, Schwartz CE, Reiss AL.

Neurogenetics. 2007 Apr;8(2):143-7. Epub 2007 Feb 22.

PMID:
17318637
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The musculoskeletal manifestations of the Coffin-Lowry syndrome.

Herrera-Soto JA, Santiago-Cornier A, Segal LS, Ramirez N, Tamai J.

J Pediatr Orthop. 2007 Jan-Feb;27(1):85-9.

PMID:
17195803
[PubMed - indexed for MEDLINE]
17.

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

Field M, Tarpey P, Boyle J, Edkins S, Goodship J, Luo Y, Moon J, Teague J, Stratton MR, Futreal PA, Wooster R, Raymond FL, Turner G.

Clin Genet. 2006 Dec;70(6):509-15.

PMID:
17100996
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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
[PubMed - indexed for MEDLINE]
19.

Treatment of drop episodes in Coffin-Lowry syndrome.

O'Riordan S, Patton M, Schon F.

J Neurol. 2006 Jan;253(1):109-10. Epub 2005 Jul 20. No abstract available.

PMID:
16021355
[PubMed - indexed for MEDLINE]
20.

RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.

Nakamura M, Yamagata T, Mori M, Momoi MY.

Brain Dev. 2005 Mar;27(2):114-7.

PMID:
15668050
[PubMed - indexed for MEDLINE]

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