List of works - Pierre Billuart

A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα

scientific article

A gene for dominant nonspecific X-linked mental retardation is located in Xq28

scientific article

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

scientific article

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

scientific article

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

scientific article

A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation.

scientific article

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

scientific article

Astrocyte Transcriptome from the Mecp2(308)-Truncated Mouse Model of Rett Syndrome

scientific article published on 25 July 2015

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

scientific article published on 28 September 2017

Autophosphorylation-independent and -dependent functions of focal adhesion kinase during development

scientific article published on 23 September 2009

CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.

scientific article published on 6 June 2017

Construction of a highly annotated cosmid contig spanning 550Kb within the X-linked nonspecific mental retardation candidate region at Xp21.3-22.1.

scientific article published in July 1999

Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2(308/y) Mouse Model

scientific article published on 30 January 2015

Do Astrocytes Play a Role in Intellectual Disabilities?

scientific article published on 09 July 2019

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

scientific article

Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous system

scientific article (publication date: September 2001)

Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

scientific article published on 11 September 2015

Emerging major synaptic signaling pathways involved in intellectual disability

scientific article published on 25 October 2011

Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability

scientific article published on 4 May 2016

From fragile X mental retardation protein to Rac1 GTPase: new insights from Fly CYFIP.

scientific article published in June 2003

Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24.

scientific article published in October 1997

IL-38 Ameliorates Skin Inflammation and Limits IL-17 Production from γδ T Cells

scientific article published on 01 April 2019

IL1RAPL1 controls inhibitory networks during cerebellar development in mice

scientific article published on 7 October 2009

Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation

scientific article published on 01 July 1996

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

scientific article published on 2 September 2015

Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation.

scientific article published in February 1998

Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation

scientific article published on 28 April 2009

Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

scientific article published on 14 September 2011

Lack of the presynaptic RhoGAP protein oligophrenin1 leads to cognitive disabilities through dysregulation of the cAMP/PKA signalling pathway.

scientific article published on 02 December 2013

Loss of Function of KCNC1 is associated with intellectual disability without seizures

scientific article published in February 2017

Loss of X-linked mental retardation gene oligophrenin1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity

scientific article published in August 2007

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

scientific article

Major synaptic signaling pathways involved in intellectual disability

scientific article published on 01 July 2012

Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.

scientific article

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.

scientific article published on 4 December 2017

Neuronal JNK pathway activation by IL-1 is mediated through IL1RAPL1, a protein required for development of cognitive functions

scientific article

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

scientific article published in August 1998

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis

scientific article published on 9 October 2014

Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences

scientific article published on 12 September 2018

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

scientific article published on 09 October 2014

Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation.

scientific article published in November 1998

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

scientific article

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

scientific article

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

scientific article

Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulb

scientific article published on 13 October 2016

Oligophrenin1 protects mice against myocardial ischemia and reperfusion injury by modulating inflammation and myocardial apoptosis

scientific article published on 23 April 2016

Pharmacological rescue of adult hippocampal neurogenesis in a mouse model of X-linked intellectual disability

scientific article published on 11 January 2017

Protein Kinase A Deregulation in the Medial Prefrontal Cortex Impairs Working Memory in Murine Oligophrenin-1 Deficiency

scientific article published on 13 October 2017

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

scientific article

RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome

scientific article published on 16 July 2018

ROCK/PKA Inhibition Rescues Hippocampal Hyperexcitability and GABAergic Neuron Alterations in a Oligophrenin-1 Knock-Out Mouse Model of X-Linked Intellectual Disability

scientific article published on 25 February 2020

Rapid reversal of impaired inhibitory and excitatory transmission but not spine dysgenesis in a mouse model of mental retardation

scientific article published on 28 November 2011

Regulating axon branch stability: the role of p190 RhoGAP in repressing a retraction signaling pathway.

scientific article published in October 2001

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function

scientific article published on 09 May 2016

Somatic mutations of the β-catenin gene are frequent in mouse and human hepatocellular carcinomas ⬇️

scientific article published on July 21, 1998

Target-specific vulnerability of excitatory synapses leads to deficits in associative memory in a model of intellectual disorder.

scientific article published in August 2013

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

scientific journal article

The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity.

scientific article published on 2 June 2017

The intellectual disability protein Oligophrenin-1 controls astrocyte morphology and migration

scientific article published on 19 February 2020

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

scientific journal article

X-linked mental retardation

scientific article published in November 2005

X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter

scientific article published in July 1996

[A role for astrocytes in intellectual disabilities?]

scientific article published on 07 October 2020

List of works by Pierre Billuart

A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα

A gene for dominant nonspecific X-linked mental retardation is located in Xq28

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

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

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation.

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

Astrocyte Transcriptome from the Mecp2(308)-Truncated Mouse Model of Rett Syndrome

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

Autophosphorylation-independent and -dependent functions of focal adhesion kinase during development

CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.

Construction of a highly annotated cosmid contig spanning 550Kb within the X-linked nonspecific mental retardation candidate region at Xp21.3-22.1.

Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2(308/y) Mouse Model

Do Astrocytes Play a Role in Intellectual Disabilities?

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

Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous system

Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

Emerging major synaptic signaling pathways involved in intellectual disability

Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability

From fragile X mental retardation protein to Rac1 GTPase: new insights from Fly CYFIP.

Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24.

IL-38 Ameliorates Skin Inflammation and Limits IL-17 Production from γδ T Cells

IL1RAPL1 controls inhibitory networks during cerebellar development in mice

Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation

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

Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation.

Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation

Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

Lack of the presynaptic RhoGAP protein oligophrenin1 leads to cognitive disabilities through dysregulation of the cAMP/PKA signalling pathway.

Loss of Function of KCNC1 is associated with intellectual disability without seizures

Loss of X-linked mental retardation gene oligophrenin1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity

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

Major synaptic signaling pathways involved in intellectual disability

Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.

Neuronal JNK pathway activation by IL-1 is mediated through IL1RAPL1, a protein required for development of cognitive functions

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis

Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences

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

Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation.

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

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

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

Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulb

Oligophrenin1 protects mice against myocardial ischemia and reperfusion injury by modulating inflammation and myocardial apoptosis

Pharmacological rescue of adult hippocampal neurogenesis in a mouse model of X-linked intellectual disability

Protein Kinase A Deregulation in the Medial Prefrontal Cortex Impairs Working Memory in Murine Oligophrenin-1 Deficiency

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome

ROCK/PKA Inhibition Rescues Hippocampal Hyperexcitability and GABAergic Neuron Alterations in a Oligophrenin-1 Knock-Out Mouse Model of X-Linked Intellectual Disability

Rapid reversal of impaired inhibitory and excitatory transmission but not spine dysgenesis in a mouse model of mental retardation

Regulating axon branch stability: the role of p190 RhoGAP in repressing a retraction signaling pathway.

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function

Somatic mutations of the β-catenin gene are frequent in mouse and human hepatocellular carcinomas ⬇️

Target-specific vulnerability of excitatory synapses leads to deficits in associative memory in a model of intellectual disorder.

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

The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity.

The intellectual disability protein Oligophrenin-1 controls astrocyte morphology and migration

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

X-linked mental retardation

X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter

[A role for astrocytes in intellectual disabilities?]