Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation
Published 2017 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation
Authors
Keywords
Neurons, Frameshift mutation, Cell cycle and cell division, Hindbrain, Precursor cells, DAPI staining, Neuron migration, Cerebellum
Journal
PLoS Genetics
Volume 13, Issue 4, Pages e1006746
Publisher
Public Library of Science (PLoS)
Online
2017-04-29
DOI
10.1371/journal.pgen.1006746
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Proliferation and Differentiation Deficits are a Major Convergence Point for Neurodevelopmental Disorders
- (2016) Carl Ernst TRENDS IN NEUROSCIENCES
- Signaling Pathways That Control Rho Kinase Activity Maintain the Embryonic Epicardial Progenitor State
- (2015) Mykhaylo V. Artamonov et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessiveWNT1mutations
- (2015) Kimberly A Aldinger et al. JOURNAL OF MEDICAL GENETICS
- The Diverse Genetic Landscape of Neurodevelopmental Disorders
- (2014) Wen F. Hu et al. Annual Review of Genomics and Human Genetics
- GEF-H1 functions in apical constriction and cell intercalations and is essential for vertebrate neural tube closure
- (2014) K. Itoh et al. JOURNAL OF CELL SCIENCE
- Transcriptional landscape of the prenatal human brain
- (2014) Jeremy A. Miller et al. NATURE
- A High-Resolution Spatiotemporal Atlas of Gene Expression of the Developing Mouse Brain
- (2014) Carol L. Thompson et al. NEURON
- Integrative Mechanisms of Oriented Neuronal Migration in the Developing Brain
- (2013) Irina Evsyukova et al. Annual Review of Cell and Developmental Biology
- GEF-H1 controls microtubule-dependent sensing of nucleic acids for antiviral host defenses
- (2013) Hao-Sen Chiang et al. NATURE IMMUNOLOGY
- CDK5RAP2 Expression During Murine and Human Brain Development Correlates with Pathology in Primary Autosomal Recessive Microcephaly
- (2012) Lina Issa et al. CEREBRAL CORTEX
- Mechanistic Insight into the Microtubule and Actin Cytoskeleton Coupling through Dynein-Dependent RhoGEF Inhibition
- (2012) David Meiri et al. MOLECULAR CELL
- Reference genes in the developing murine brain and in differentiating embryonic stem cells
- (2012) Nadine Kraemer et al. NEUROLOGICAL RESEARCH
- Dynamic regulation of GEF-H1 localization at microtubules by Par1b/MARK2
- (2011) Yuta Yoshimura et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Calpain-6, a microtubule-stabilizing protein, regulates Rac1 activity and cell motility through interaction with GEF-H1
- (2011) K. Tonami et al. JOURNAL OF CELL SCIENCE
- Spatio-temporal transcriptome of the human brain
- (2011) Hyo Jung Kang et al. NATURE
- Deep sequencing reveals 50 novel genes for recessive cognitive disorders
- (2011) Hossein Najmabadi et al. NATURE
- Loss of RhoA in neural progenitor cells causes the disruption of adherens junctions and hyperproliferation
- (2011) K.-i. Katayama et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Involvement of p114-RhoGEF and Lfc in Wnt-3a– and Dishevelled-Induced RhoA Activation and Neurite Retraction in N1E-115 Mouse Neuroblastoma Cells
- (2010) Takuji Tsuji et al. MOLECULAR BIOLOGY OF THE CELL
- Modulation of Rho Guanine Exchange Factor Lfc Activity by Protein Kinase A-Mediated Phosphorylation
- (2009) D. Meiri et al. MOLECULAR AND CELLULAR BIOLOGY
- Guanine Nucleotide Exchange Factor-H1 Regulates Cell Migration via Localized Activation of RhoA at the Leading Edge
- (2009) Perihan Nalbant et al. MOLECULAR BIOLOGY OF THE CELL
- Lfc and Tctex-1 regulate the genesis of neurons from cortical precursor cells
- (2009) Andrée Gauthier-Fisher et al. NATURE NEUROSCIENCE
- ERK1/2 phosphorylate GEF-H1 to enhance its guanine nucleotide exchange activity toward RhoA
- (2008) Shuh-hei Fujishiro et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Neurogenesis and asymmetric cell division
- (2008) Weimin Zhong et al. CURRENT OPINION IN NEUROBIOLOGY
- GEF-H1 Couples Nocodazole-induced Microtubule Disassembly to Cell Contractility via RhoA
- (2008) Yuan-Chen Chang et al. MOLECULAR BIOLOGY OF THE CELL
- Cellular functions of GEF-H1, a microtubule-regulated Rho-GEF: is altered GEF-H1 activity a crucial determinant of disease pathogenesis?
- (2008) Jörg Birkenfeld et al. TRENDS IN CELL BIOLOGY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now