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Results: 16

1.

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
2.

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]
3.

Preliminary investigation of the influence of CREB1 gene polymorphisms on cognitive dysfunction in Chinese patients with major depression.

Guo J, Liu Z, Dai H, Zhu Z, Wang H, Yang C, Xiao L, Huang Y, Wang G.

Int J Neurosci. 2014 Jan;124(1):22-9. doi: 10.3109/00207454.2013.816956. Epub 2013 Jul 24.

PMID:
23844928
[PubMed - indexed for MEDLINE]
4.

The role of genetics in the establishment and maintenance of the epigenome.

Huidobro C, Fernandez AF, Fraga MF.

Cell Mol Life Sci. 2013 May;70(9):1543-73. doi: 10.1007/s00018-013-1296-2. Epub 2013 Mar 10. Review.

PMID:
23474979
[PubMed - indexed for MEDLINE]
5.

A review of the embryological development and associated developmental abnormalities of the sternum in the light of a rare palaeopathological case of sternal clefting.

van der Merwe AE, Weston DA, Oostra RJ, Maat GJ.

Homo. 2013 Apr;64(2):129-41. doi: 10.1016/j.jchb.2013.01.003. Epub 2013 Mar 7. Review.

PMID:
23473075
[PubMed - indexed for MEDLINE]
6.

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]
7.

Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis.

Niida Y, Kuroda M, Mitani Y, Okumura A, Yokoi A.

Mol Genet Metab. 2012 Nov;107(3):580-5. doi: 10.1016/j.ymgme.2012.09.008. Epub 2012 Sep 10.

PMID:
23022073
[PubMed - indexed for MEDLINE]
8.

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]
9.

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]
10.

Hypoplastic root cementum and premature loss of primary teeth in Coffin-Lowry syndrome: a case report.

Norderyd J, Aronsson J.

Int J Paediatr Dent. 2012 Mar;22(2):154-6. doi: 10.1111/j.1365-263X.2011.01160.x. Epub 2011 Jul 22.

PMID:
21781198
[PubMed - indexed for MEDLINE]
11.

A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome.

Senel S, Ceylaner S, Ceylaner G, Sahin AH, Andrieux J, Delaunoy JP.

Genet Couns. 2011;22(1):21-4.

PMID:
21614984
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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]
14.

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.

PMID:
20832397
[PubMed - indexed for MEDLINE]
Free Article
15.

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

Jurkiewicz D, Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Kugaudo M, Gajdulewicz M, Chrzanowska K, Popowska E, Krajewska-Walasek M.

Eur J Med Genet. 2010 Sep-Oct;53(5):268-73. doi: 10.1016/j.ejmg.2010.07.006. Epub 2010 Jul 15.

PMID:
20637903
[PubMed - indexed for MEDLINE]
16.

Ras and Rap signaling in synaptic plasticity and mental disorders.

Stornetta RL, Zhu JJ.

Neuroscientist. 2011 Feb;17(1):54-78. doi: 10.1177/1073858410365562. Epub 2010 Apr 29. Review.

PMID:
20431046
[PubMed - indexed for MEDLINE]
Free PMC Article

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