Literature DB >> 24753000

DEPDC5 does it all: shared genetics for diverse epilepsy syndromes.

Annapurna Poduri1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 24753000     DOI： 10.1002/ana.24160

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


× No keyword cloud information.
  7 in total

1.  Mutational inactivation of mTORC1 repressor gene DEPDC5 in human gastrointestinal stromal tumors.

Authors:  Yuzhi Pang; Feifei Xie; Hui Cao; Chunmeng Wang; Meijun Zhu; Xiaoxiao Liu; Xiaojing Lu; Tao Huang; Yanying Shen; Ke Li; Xiaona Jia; Zhang Li; Xufen Zheng; Simin Wang; Yi He; Linhui Wang; Jonathan A Fletcher; Yuexiang Wang
Journal:  Proc Natl Acad Sci U S A       Date:  2019-10-21       Impact factor: 11.205

2.  Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

Authors:  Alissa M D'Gama; Ying Geng; Javier A Couto; Beth Martin; Evan A Boyle; Christopher M LaCoursiere; Amer Hossain; Nicole E Hatem; Brenda J Barry; David J Kwiatkowski; Harry V Vinters; A James Barkovich; Jay Shendure; Gary W Mathern; Christopher A Walsh; Annapurna Poduri
Journal:  Ann Neurol       Date:  2015-02-26       Impact factor: 10.422

3.  Sending Mixed Signals: The Expanding Role of Molecular Cascade Mutations in Malformations of Cortical Development and Epilepsy.

Authors:  Philip H Iffland; Peter B Crino
Journal:  Epilepsy Curr       Date:  2016 May-Jun       Impact factor: 7.500

4.  DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons.

Authors:  Philip H Iffland; Marianna Baybis; Allan E Barnes; Richard J Leventer; Paul J Lockhart; Peter B Crino
Journal:  Neurobiol Dis       Date:  2018-02-24       Impact factor: 5.996

5.  Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

Authors:  Alissa M D'Gama; Mollie B Woodworth; Amer A Hossain; Sara Bizzotto; Nicole E Hatem; Christopher M LaCoursiere; Imad Najm; Zhong Ying; Edward Yang; A James Barkovich; David J Kwiatkowski; Harry V Vinters; Joseph R Madsen; Gary W Mathern; Ingmar Blümcke; Annapurna Poduri; Christopher A Walsh
Journal:  Cell Rep       Date:  2017-12-26       Impact factor: 9.423

Review 6.  Genetic and epigenetic mechanisms of epilepsy: a review.

Authors:  Tian Chen; Mohan Giri; Zhenyi Xia; Yadu Nanda Subedi; Yan Li
Journal:  Neuropsychiatr Dis Treat       Date:  2017-07-13       Impact factor: 2.570

7.  mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly.

Authors:  Camila A B Garcia; Simone C S Carvalho; Xiaoxu Yang; Laurel L Ball; Renee D George; Kiely N James; Valentina Stanley; Martin W Breuss; Ursula Thomé; Marcelo V Santos; Fabiano P Saggioro; Luciano Neder Serafini; Wilson A Silva; Joseph G Gleeson; Hélio R Machado
Journal:  Epilepsia Open       Date:  2020-01-26
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.