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Results: 1 to 20 of 97

Similar articles for PubMed (Select 24505460)

1.

Identification and glycerol-induced correction of misfolding mutations in the X-linked mental retardation gene CASK.

LaConte LE, Chavan V, Mukherjee K.

PLoS One. 2014 Feb 5;9(2):e88276. doi: 10.1371/journal.pone.0088276. eCollection 2014.

2.

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

Hackett A, Tarpey PS, Licata A, Cox J, Whibley A, Boyle J, Rogers C, Grigg J, Partington M, Stevenson RE, Tolmie J, Yates JR, Turner G, Wilson M, Futreal AP, Corbett M, Shaw M, Gecz J, Raymond FL, Stratton MR, Schwartz CE, Abidi FE.

Eur J Hum Genet. 2010 May;18(5):544-52. doi: 10.1038/ejhg.2009.220. Epub 2009 Dec 23. Erratum in: Eur J Hum Genet. 2010 May;18(5):552.

3.

A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.

Watkins RJ, Patil R, Goult BT, Thomas MG, Gottlob I, Shackleton S.

Hum Mol Genet. 2013 May 15;22(10):2105-18. doi: 10.1093/hmg/ddt060. Epub 2013 Feb 12.

4.

Structural constraints and functional divergences in CASK evolution.

LaConte L, Mukherjee K.

Biochem Soc Trans. 2013 Aug;41(4):1017-22. doi: 10.1042/BST20130061. Review.

PMID:
23863172
5.

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K.

Nat Genet. 2008 Sep;40(9):1065-7. doi: 10.1038/ng.194.

PMID:
19165920
6.

Liprin-mediated large signaling complex organization revealed by the liprin-α/CASK and liprin-α/liprin-β complex structures.

Wei Z, Zheng S, Spangler SA, Yu C, Hoogenraad CC, Zhang M.

Mol Cell. 2011 Aug 19;43(4):586-98. doi: 10.1016/j.molcel.2011.07.021.

7.

X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth.

Kuo TY, Hong CJ, Chien HL, Hsueh YP.

J Neurosci Res. 2010 Aug 15;88(11):2364-73. doi: 10.1002/jnr.22407.

PMID:
20623620
8.

CASK point mutation regulates protein-protein interactions and NR2b promoter activity.

Huang TN, Hsueh YP.

Biochem Biophys Res Commun. 2009 Apr 24;382(1):219-22. doi: 10.1016/j.bbrc.2009.03.015. Epub 2009 Mar 9.

PMID:
19275891
9.

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.

Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D.

Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18.

10.

The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation.

Hayashi S, Mizuno S, Migita O, Okuyama T, Makita Y, Hata A, Imoto I, Inazawa J.

Am J Med Genet A. 2008 Aug 15;146A(16):2145-51. doi: 10.1002/ajmg.a.32433.

PMID:
18629876
11.

Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).

Hayashi S, Okamoto N, Chinen Y, Takanashi J, Makita Y, Hata A, Imoto I, Inazawa J.

Hum Genet. 2012 Jan;131(1):99-110. doi: 10.1007/s00439-011-1047-0. Epub 2011 Jul 7.

PMID:
21735175
12.

A missense mutation in CASK causes FG syndrome in an Italian family.

Piluso G, D'Amico F, Saccone V, Bismuto E, Rotundo IL, Di Domenico M, Aurino S, Schwartz CE, Neri G, Nigro V.

Am J Hum Genet. 2009 Feb;84(2):162-77. doi: 10.1016/j.ajhg.2008.12.018. Epub 2009 Feb 5.

13.

Phenotypic spectrum associated with CASK loss-of-function mutations.

Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz DT, Prabhakar P, Rappold G, Rau I, Rettenberger G, Schlüter G, Scott RH, Shoukier M, Wohlleber E, Zirn B, Dobyns WB, Uyanik G.

J Med Genet. 2011 Nov;48(11):741-51. doi: 10.1136/jmedgenet-2011-100218. Epub 2011 Sep 27.

PMID:
21954287
14.

CASK phosphorylation by PKA regulates the protein-protein interactions of CASK and expression of the NMDAR2b gene.

Huang TN, Chang HP, Hsueh YP.

J Neurochem. 2010 Mar;112(6):1562-73. doi: 10.1111/j.1471-4159.2010.06569.x. Epub 2010 Jan 7.

PMID:
20067577
15.

The molecular basis of the Caskin1 and Mint1 interaction with CASK.

Stafford RL, Ear J, Knight MJ, Bowie JU.

J Mol Biol. 2011 Sep 9;412(1):3-13. doi: 10.1016/j.jmb.2011.07.005. Epub 2011 Jul 12.

16.

CASK Functions as a Mg2+-independent neurexin kinase.

Mukherjee K, Sharma M, Urlaub H, Bourenkov GP, Jahn R, Südhof TC, Wahl MC.

Cell. 2008 Apr 18;133(2):328-39. doi: 10.1016/j.cell.2008.02.036.

17.

Central regulation of locomotor behavior of Drosophila melanogaster depends on a CASK isoform containing CaMK-like and L27 domains.

Slawson JB, Kuklin EA, Ejima A, Mukherjee K, Ostrovsky L, Griffith LC.

Genetics. 2011 Jan;187(1):171-84. doi: 10.1534/genetics.110.123406. Epub 2010 Nov 8.

18.

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.

Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N.

Epilepsia. 2012 Aug;53(8):1441-9. doi: 10.1111/j.1528-1167.2012.03548.x. Epub 2012 Jun 18.

PMID:
22709267
19.

Calcium/calmodulin-dependent serine protein kinase and mental retardation.

Hsueh YP.

Ann Neurol. 2009 Oct;66(4):438-43. doi: 10.1002/ana.21755. Review.

PMID:
19847910
20.

Neuroradiologic features of CASK mutations.

Takanashi J, Arai H, Nabatame S, Hirai S, Hayashi S, Inazawa J, Okamoto N, Barkovich AJ.

AJNR Am J Neuroradiol. 2010 Oct;31(9):1619-22. doi: 10.3174/ajnr.A2173. Epub 2010 Jul 1.

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