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Emerging major synaptic signaling pathways involved in intellectual disability

Molecular psychiatry, 2012-07, Vol.17 (7), p.682-693

2012

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Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

Molecular psychiatry, 2018-05, Vol.23 (5), p.1356-1367

2018

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Identification of intellectual disability genes showing circadian clock-dependent expression in the mouse hippocampus

Neuroscience, 2015-11, Vol.308, p.11-50

2015

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Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant

Clinical genetics, 2017-12, Vol.92 (6), p.669-670

2017

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Loss of oligophrenin1 leads to uncontrolled Rho activation and increased thrombus formation in mice

Journal of thrombosis and haemostasis, 2015-04, Vol.13 (4), p.619-630

2015

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Major synaptic signaling pathways involved in intellectual disability

Molecular psychiatry, 2012-07, Vol.17 (7), p.663-663

2012

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A weak coupling between a near-wall Eulerian solver and a Vortex Particle-Mesh method for the efficient simulation of 2D external flows

Journal of computational physics, 2023-01, Vol.473, p.111726, Article 111726

2023

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Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

Neurology, 2005-11, Vol.65 (9), p.1364-1369

2005

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Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes

Human molecular genetics, 2016-01, Vol.25 (1), p.146-157

2016

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OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells

Human molecular genetics, 2015-02, Vol.24 (4), p.994-1006

2015

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Oligophrenin-1 Connects Exocytotic Fusion to Compensatory Endocytosis in Neuroendocrine Cells

The Journal of neuroscience, 2015-08, Vol.35 (31), p.11045-11055

2015

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Loss of X-Linked Mental Retardation Gene Oligophrenin1 in Mice Impairs Spatial Memory and Leads to Ventricular Enlargement and Dendritic Spine Immaturity

The Journal of neuroscience, 2007-08, Vol.27 (35), p.9439-9450

2007

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Somatic Mutations of the β -catenin Gene are Frequent in Mouse and Human Hepatocellular Carcinomas

Proceedings of the National Academy of Sciences - PNAS, 1998-07, Vol.95 (15), p.8847-8851

1998

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GTPase-activating protein oligophrenin 1 is a new partner of multifunctional adapter protein intersectin 1

Biopolimery i kletka, 2012, Vol.28 (5), p.357-362

2012

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A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

Cell, 1998-01, Vol.92 (1), p.51-61

1998

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Regulating Axon Branch Stability: The Role of p190 RhoGAP in Repressing a Retraction Signaling Pathway

Cell, 2001-10, Vol.107 (2), p.195-207

2001

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A mosaic genetic screen for genes necessary for Drosophila mushroom body neuronal morphogenesis

Development (Cambridge), 2003-03, Vol.130 (6), p.1203-1213

2003

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From Fragile X Mental Retardation Protein to Rac1 GTPase: New Insights from Fly CYFIP

Neuron, 2003-06, Vol.38 (6), p.843-845

2003

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Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

Nature (London), 1998-04, Vol.392 (6679), p.923-926

1998

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Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22

Journal of medical genetics, 1997-03, Vol.34 (3), p.177-183

1997

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A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

Nature genetics, 2000-02, Vol.24 (2), p.167-170

2000

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The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain

Molecular and cellular neuroscience, 2003-08, Vol.23 (4), p.574-586

2003

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Identification by STS PCR Screening of a Microdeletion in Xp21.3–22.1 Associated with Non-specific Mental Retardation

Human molecular genetics, 1996-07, Vol.5 (7), p.977-979

1996

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Doublecortin Interacts with μ Subunits of Clathrin Adaptor Complexes in the Developing Nervous System

Molecular and cellular neuroscience, 2001-09, Vol.18 (3), p.307-319

2001

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X-linked mental retardation

M.S. Médecine sciences, 2005-11, Vol.21 (11), p.947-953

2005

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Emerging major synaptic signaling pathways involved in intellectual disability

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

Identification of intellectual disability genes showing circadian clock-dependent expression in the mouse hippocampus

Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant

Loss of oligophrenin1 leads to uncontrolled Rho activation and increased thrombus formation in mice

Major synaptic signaling pathways involved in intellectual disability

A weak coupling between a near-wall Eulerian solver and a Vortex Particle-Mesh method for the efficient simulation of 2D external flows

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes

OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells

Oligophrenin-1 Connects Exocytotic Fusion to Compensatory Endocytosis in Neuroendocrine Cells

Loss of X-Linked Mental Retardation Gene Oligophrenin1 in Mice Impairs Spatial Memory and Leads to Ventricular Enlargement and Dendritic Spine Immaturity

Somatic Mutations of the β -catenin Gene are Frequent in Mouse and Human Hepatocellular Carcinomas

GTPase-activating protein oligophrenin 1 is a new partner of multifunctional adapter protein intersectin 1

A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

Regulating Axon Branch Stability: The Role of p190 RhoGAP in Repressing a Retraction Signaling Pathway

A mosaic genetic screen for genes necessary for Drosophila mushroom body neuronal morphogenesis

From Fragile X Mental Retardation Protein to Rac1 GTPase: New Insights from Fly CYFIP

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain

Identification by STS PCR Screening of a Microdeletion in Xp21.3–22.1 Associated with Non-specific Mental Retardation

Doublecortin Interacts with μ Subunits of Clathrin Adaptor Complexes in the Developing Nervous System

X-linked mental retardation

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