Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 35

PubMed (Weighted) Links for Protein (Select 194248068)

1.

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G.

Hum Mutat. 2013 Feb;34(2):385-94. doi: 10.1002/humu.22248. Epub 2012 Dec 12.

PMID:
23161826
2.

De novo autosomal dominant mutation in SYNGAP1.

Cook EH Jr.

Autism Res. 2011 Apr;4(2):155-6. doi: 10.1002/aur.198. Review. No abstract available.

PMID:
21480541
3.

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka S, Krebs MO, Joober R, Lacaille JC, Nadeau A, Milunsky JM, Wang Z, Carmant L, Mottron L, Beauchamp MH, Rouleau GA, Michaud JL.

Biol Psychiatry. 2011 May 1;69(9):898-901. doi: 10.1016/j.biopsych.2010.11.015. Epub 2011 Jan 15.

PMID:
21237447
4.

A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation.

Krepischi AC, Rosenberg C, Costa SS, Crolla JA, Huang S, Vianna-Morgante AM.

Am J Med Genet A. 2010 Sep;152A(9):2376-8. doi: 10.1002/ajmg.a.33554. No abstract available.

PMID:
20683986
5.

[De novo mutations in SYNGAP1 associated with non-syndromic mental retardation].

Hamdan FF, Gauthier J, Rouleau GA, Michaud JL.

Med Sci (Paris). 2010 Feb;26(2):133-5. doi: 10.1051/medsci/2010262133. French. No abstract available.

6.

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

Hamdan FF, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S, Dobrzeniecka S, Côté M, Perreau-Linck E, Carmant L, D'Anjou G, Fombonne E, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Mouaffak F, Joober R, Mottron L, Drapeau P, Marineau C, Lafrenière RG, Lacaille JC, Rouleau GA, Michaud JL; Synapse to Disease Group.

N Engl J Med. 2009 Feb 5;360(6):599-605. doi: 10.1056/NEJMoa0805392. Erratum in: N Engl J Med. 2009 Oct 29;361(18):1814. Perreault-Linck, Elizabeth [corrected to Perreau-Linck, Elizabeth].

7.

The C2 domain of SynGAP is essential for stimulation of the Rap GTPase reaction.

Pena V, Hothorn M, Eberth A, Kaschau N, Parret A, Gremer L, Bonneau F, Ahmadian MR, Scheffzek K.

EMBO Rep. 2008 Apr;9(4):350-5. doi: 10.1038/embor.2008.20. Epub 2008 Mar 7.

8.

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC.

Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26.

9.

SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons.

Rumbaugh G, Adams JP, Kim JH, Huganir RL.

Proc Natl Acad Sci U S A. 2006 Mar 21;103(12):4344-51. Epub 2006 Mar 14.

10.

The role of synaptic GTPase-activating protein in neuronal development and synaptic plasticity.

Kim JH, Lee HK, Takamiya K, Huganir RL.

J Neurosci. 2003 Feb 15;23(4):1119-24.

11.

Distinct phosphotyrosines on a growth factor receptor bind to specific molecules that mediate different signaling pathways.

Fantl WJ, Escobedo JA, Martin GA, Turck CW, del Rosario M, McCormick F, Williams LT.

Cell. 1992 May 1;69(3):413-23.

PMID:
1374684
12.

Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses.

Clement JP, Aceti M, Creson TK, Ozkan ED, Shi Y, Reish NJ, Almonte AG, Miller BH, Wiltgen BJ, Miller CA, Xu X, Rumbaugh G.

Cell. 2012 Nov 9;151(4):709-23. doi: 10.1016/j.cell.2012.08.045.

13.

Decreased expression of NMDA receptor-associated proteins in frontal cortex of elderly patients with schizophrenia.

Funk AJ, Rumbaugh G, Harotunian V, McCullumsmith RE, Meador-Woodruff JH.

Neuroreport. 2009 Jul 15;20(11):1019-22. doi: 10.1097/WNR.0b013e32832d30d9.

14.

Identification of novel phosphorylation sites on postsynaptic density proteins.

Jaffe H, Vinade L, Dosemeci A.

Biochem Biophys Res Commun. 2004 Aug 13;321(1):210-8.

PMID:
15358237
16.

Regulation of the neuron-specific Ras GTPase-activating protein, synGAP, by Ca2+/calmodulin-dependent protein kinase II.

Oh JS, Manzerra P, Kennedy MB.

J Biol Chem. 2004 Apr 23;279(17):17980-8. Epub 2004 Feb 17.

17.

Transient cerebral ischemia increases tyrosine phosphorylation of the synaptic RAS-GTPase activating protein, SynGAP.

Pei L, Teves RL, Wallace MC, Gurd JW.

J Cereb Blood Flow Metab. 2001 Aug;21(8):955-63.

18.

Characterization of a novel synGAP isoform, synGAP-beta.

Li W, Okano A, Tian QB, Nakayama K, Furihata T, Nawa H, Suzuki T.

J Biol Chem. 2001 Jun 15;276(24):21417-24. Epub 2001 Feb 27.

20.

A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II.

Chen HJ, Rojas-Soto M, Oguni A, Kennedy MB.

Neuron. 1998 May;20(5):895-904. Erratum in: Neuron 2002 Jan 3;33(1):151.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk