Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy
出版年份 2015 全文链接
标题
Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy
作者
关键词
-
出版物
eLife
Volume 4, Issue -, Pages -
出版商
eLife Sciences Organisation, Ltd.
发表日期
2015-12-03
DOI
10.7554/elife.12703
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia
- (2015) Alissa M. D'Gama et al. ANNALS OF NEUROLOGY
- PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
- (2015) Laura A. Jansen et al. BRAIN
- Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA
- (2015) Valerie L. Luks et al. JOURNAL OF PEDIATRICS
- Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy
- (2015) Jae Seok Lim et al. NATURE MEDICINE
- An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development
- (2015) Seung Tae Baek et al. NATURE MEDICINE
- Sleep impairment and reduced interneuron excitability in a mouse model of Dravet Syndrome
- (2015) Franck Kalume et al. NEUROBIOLOGY OF DISEASE
- Impaired Reelin-Dab1 Signaling Contributes to Neuronal Migration Deficits of Tuberous Sclerosis Complex
- (2015) Uk Yeol Moon et al. Cell Reports
- Somatic mosaicism for the p.His1047Arg mutation inPIK3CAin a girl with mesenteric lipomatosis
- (2014) Ana S. A. Cohen et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Clinical delineation and natural history of thePIK3CA-related overgrowth spectrum
- (2014) Kim M. Keppler-Noreuil et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Long-term seizure outcome in 211 patients with focal cortical dysplasia
- (2014) Susanne Fauser et al. EPILEPSIA
- Activating PIK3CA alleles and lymphangiogenic phenotype of lymphatic endothelial cells isolated from lymphatic malformations
- (2014) Alexander J. Osborn et al. HUMAN MOLECULAR GENETICS
- Layer-specific gene expression in epileptogenic type II focal cortical dysplasia: normal-looking neurons reveal the presence of a hidden laminar organization
- (2014) Laura Rossini et al. Acta Neuropathologica Communications
- Megalencephaly Syndromes and Activating Mutations in the PI3K-AKT Pathway: MPPH and MCAP
- (2013) GHAYDA M. MIRZAA et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Diverse Mechanisms of AKT Pathway Activation in Human Malignancy
- (2013) Mitchell Cheung et al. CURRENT CANCER DRUG TARGETS
- mTOR inhibitors as a new therapeutic option for epilepsy
- (2013) Paolo Curatolo et al. Expert Review of Neurotherapeutics
- Sudden unexpected death in Dravet syndrome: Respiratory and other physiological dysfunctions
- (2013) Franck Kalume RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY
- Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
- (2012) Kyle C. Kurek et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
- (2012) Ghayda M. Mirzaa et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: Unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly
- (2012) Asako Arai et al. BRAIN RESEARCH
- Pten deletion causes mTorc1-dependent ectopic neuroblast differentiation without causing uniform migration defects
- (2012) G. Zhu et al. DEVELOPMENT
- Pentylenetetrazole-induced seizures cause acute, but not chronic, mTOR pathway activation in rat
- (2012) Bo Zhang et al. EPILEPSIA
- Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly
- (2012) Jonathan J. Rios et al. HUMAN MOLECULAR GENETICS
- An activating Pik3ca mutation coupled with Pten loss is sufficient to initiate ovarian tumorigenesis in mice
- (2012) Kathryn M. Kinross et al. JOURNAL OF CLINICAL INVESTIGATION
- Characterization of the Mechanism of Action of the Pan Class I PI3K Inhibitor NVP-BKM120 across a Broad Range of Concentrations
- (2012) S. M. Brachmann et al. MOLECULAR CANCER THERAPEUTICS
- Novel mutations target distinct subgroups of medulloblastoma
- (2012) Giles Robinson et al. NATURE
- Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA
- (2012) Marjorie J Lindhurst et al. NATURE GENETICS
- De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
- (2012) Jean-Baptiste Rivière et al. NATURE GENETICS
- De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
- (2012) Jeong Ho Lee et al. NATURE GENETICS
- Conditional activation of Pik3ca H1047R in a knock-in mouse model promotes mammary tumorigenesis and emergence of mutations
- (2012) W Yuan et al. ONCOGENE
- FGFR3, PIK3CA and RAS mutations in benign lichenoid keratosis
- (2011) L. Groesser et al. BRITISH JOURNAL OF DERMATOLOGY
- Luminal Expression of PIK3CA Mutant H1047R in the Mammary Gland Induces Heterogeneous Tumors
- (2011) D. S. Meyer et al. CANCER RESEARCH
- Phase I, Dose-Escalation Study of BKM120, an Oral Pan-Class I PI3K Inhibitor, in Patients With Advanced Solid Tumors
- (2011) Johanna C. Bendell et al. JOURNAL OF CLINICAL ONCOLOGY
- Identification and Characterization of NVP-BKM120, an Orally Available Pan-Class I PI3-Kinase Inhibitor
- (2011) S.-M. Maira et al. MOLECULAR CANCER THERAPEUTICS
- Oncogenic PIK3CA-driven mammary tumors frequently recur via PI3K pathway–dependent and PI3K pathway–independent mechanisms
- (2011) Pixu Liu et al. NATURE MEDICINE
- Advances in MRI for 'cryptogenic' epilepsies
- (2011) Andrea Bernasconi et al. Nature Reviews Neurology
- Tuberous sclerosis: A primary pathology of astrocytes?
- (2010) Alexander A. Sosunov et al. EPILEPSIA
- The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission1
- (2010) Ingmar Blümcke et al. EPILEPSIA
- Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex
- (2008) Ling-Hui Zeng et al. ANNALS OF NEUROLOGY
- An Integrative Genomic and Proteomic Analysis of PIK3CA, PTEN, and AKT Mutations in Breast Cancer
- (2008) K. Stemke-Hale et al. CANCER RESEARCH
- Helical domain and kinase domain mutations in p110 of phosphatidylinositol 3-kinase induce gain of function by different mechanisms
- (2008) L. Zhao et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started