Literature DB >> 20683986

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

Ana Cristina V Krepischi1, Carla Rosenberg, Silvia S Costa, John A Crolla, Shuwen Huang, Angela M Vianna-Morgante.   

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Year:  2010        PMID： 20683986     DOI： 10.1002/ajmg.a.33554

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  13 in total

1.  Transition between synaptic branch formation and synaptogenesis is regulated by the lin-4 microRNA.

Authors:  Yan Xu; Christopher C Quinn
Journal:  Dev Biol       Date:  2016-10-13       Impact factor: 3.582

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

Authors:  James P Clement; Massimiliano Aceti; Thomas K Creson; Emin D Ozkan; Yulin Shi; Nicholas J Reish; Antoine G Almonte; Brooke H Miller; Brian J Wiltgen; Courtney A Miller; Xiangmin Xu; Gavin Rumbaugh
Journal:  Cell       Date:  2012-11-09       Impact factor: 41.582

3.  Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly.

Authors:  Massimiliano Aceti; Thomas K Creson; Thomas Vaissiere; Camilo Rojas; Wen-Chin Huang; Ya-Xian Wang; Ronald S Petralia; Damon T Page; Courtney A Miller; Gavin Rumbaugh
Journal:  Biol Psychiatry       Date:  2014-08-13       Impact factor: 13.382

4.  Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.

Authors:  Robert A Kozol; Holly N Cukier; Bing Zou; Vera Mayo; Silvia De Rubeis; Guiqing Cai; Anthony J Griswold; Patrice L Whitehead; Jonathan L Haines; John R Gilbert; Michael L Cuccaro; Eden R Martin; James D Baker; Joseph D Buxbaum; Margaret A Pericak-Vance; Julia E Dallman
Journal:  Hum Mol Genet       Date:  2015-04-16       Impact factor: 6.150

Review 5.  Modulation of behavior by scaffolding proteins of the post-synaptic density.

Authors:  Can Gao; Natalie C Tronson; Jelena Radulovic
Journal:  Neurobiol Learn Mem       Date:  2013-05-20       Impact factor: 2.877

6.  Identification of an individual with a SYGNAP1 pathogenic mutation in India.

Authors:  Vijaya Verma; Amit Mandora; Abhijeet Botre; James P Clement
Journal:  Mol Biol Rep       Date:  2020-10-22       Impact factor: 2.316

Review 7.  Prioritizing the development of mouse models for childhood brain disorders.

Authors:  Kevin K Ogden; Emin D Ozkan; Gavin Rumbaugh
Journal:  Neuropharmacology       Date:  2015-07-29       Impact factor: 5.250

8.  Reduced cognition in Syngap1 mutants is caused by isolated damage within developing forebrain excitatory neurons.

Authors:  Emin D Ozkan; Thomas K Creson; Enikö A Kramár; Camilo Rojas; Ron R Seese; Alex H Babyan; Yulin Shi; Rocco Lucero; Xiangmin Xu; Jeffrey L Noebels; Courtney A Miller; Gary Lynch; Gavin Rumbaugh
Journal:  Neuron       Date:  2014-06-18       Impact factor: 17.173

9.  SynGAP regulates protein synthesis and homeostatic synaptic plasticity in developing cortical networks.

Authors:  Chih-Chieh Wang; Richard G Held; Benjamin J Hall
Journal:  PLoS One       Date:  2013-12-31       Impact factor: 3.240

10.  De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

Authors:  Michael J Parker; Alan E Fryer; Deborah J Shears; Katherine L Lachlan; Shane A McKee; Alex C Magee; Shehla Mohammed; Pradeep C Vasudevan; Soo-Mi Park; Valérie Benoit; Damien Lederer; Isabelle Maystadt; Ddd Study; David R FitzPatrick
Journal:  Am J Med Genet A       Date:  2015-06-15       Impact factor: 2.802
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