NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients

Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations

(2020) Megan E. Rech et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Altered neuronal migratory trajectories in human cerebral organoids derived from individuals with neuronal heterotopia

(2019) Johannes Klaus et al.   NATURE MEDICINE

Malformations of Cerebral Cortex Development: Molecules and Mechanisms

(2019) Gordana Juric-Sekhar et al.   Annual Review of Pathology-Mechanisms of Disease

Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome

(2019) Michele Bertacchi et al.   EMBO Molecular Medicine

Development and Arealization of the Cerebral Cortex

(2019) Cathryn R. Cadwell et al.   NEURON

Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome

(2019) Sung Eun Park et al.   OPHTHALMIC GENETICS

Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia

(2019) Ana Uzquiano et al.   Cell Reports

Clinical and neurocognitive issues associated with Bosch‐Boonstra‐Schaaf optic atrophy syndrome: A case study

(2019) Erin K. Bojanek et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The pleiotropic transcriptional regulator COUP-TFI plays multiple roles in neural development and disease

(2018) Michele Bertacchi et al.   BRAIN RESEARCH

Evolution of Cortical Neurogenesis in Amniotes Controlled by Robo Signaling Levels

(2018) Adrián Cárdenas et al.   CELL

Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation

(2018) Elena Martín-Hernández et al.   JOURNAL OF HUMAN GENETICS

Neuron-Astroglia Cell Fate Decision in the Adult Mouse Hippocampal Neurogenic Niche Is Cell-Intrinsically Controlled by COUP-TFI In Vivo

(2018) Sara Bonzano et al.   Cell Reports

A novel population of Hopx-dependent basal radial glial cells in the developing mouse neocortex

(2018) Samir Vaid et al.   DEVELOPMENT

The microRNA miR-21 Is a Mediator of FGF8 Action on Cortical COUP-TFI Translation

(2018) Marco Terrigno et al.   Stem Cell Reports

Neural histology and neurogenesis of the human fetal and infant brain

(2018) I. Kostović et al.   NEUROIMAGE

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

(2017) Sophie Nambot et al.   GENETICS IN MEDICINE

Genetic causes of optic nerve hypoplasia

(2017) Chun-An Chen et al.   JOURNAL OF MEDICAL GENETICS

Distinct cortical and sub-cortical neurogenic domains for GABAergic interneuron precursor transcription factors NKX2.1, OLIG2 and COUP-TFII in early fetal human telencephalon

(2016) Ayman Alzu’bi et al.   Brain Structure & Function

Four Functionally Distinct Regions in the Left Supramarginal Gyrus Support Word Processing

(2016) M. Oberhuber et al.   CEREBRAL CORTEX

Cerebral cortex expansion and folding: what have we learned?

(2016) Virginia Fernández et al.   EMBO JOURNAL

De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia

(2016) Gaetano Terrone et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

(2016) Chun-An Chen et al.   GENETICS IN MEDICINE

Telencephalic Flexure and Malformations of the Lateral Cerebral (Sylvian) Fissure

(2016) Harvey B. Sarnat et al.   PEDIATRIC NEUROLOGY

Quantitative and Qualitative Analysis of Transient Fetal Compartments during Prenatal Human Brain Development

(2016) Lana Vasung et al.   Frontiers in Neuroanatomy

Molecular Identity of Human Outer Radial Glia during Cortical Development

(2015) Alex A. Pollen et al.   CELL

Discrete domains of gene expression in germinal layers distinguish the development of gyrencephaly

(2015) C. de Juan Romero et al.   EMBO JOURNAL

Nonsense-mediated mRNA decay: an intricate machinery that shapes transcriptomes

(2015) Søren Lykke-Andersen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion

(2015) M. Florio et al.   SCIENCE

Cell Division Modes and Cleavage Planes of Neural Progenitors during Mammalian Cortical Development

(2015) Fumio Matsuzaki et al.   Cold Spring Harbor Perspectives in Biology

Sustained Pax6 Expression Generates Primate-like Basal Radial Glia in Developing Mouse Neocortex

(2015) Fong Kuan Wong et al.   PLOS BIOLOGY

Activin/Nodal Signaling Supports Retinal Progenitor Specification in a Narrow Time Window during Pluripotent Stem Cell Neuralization

(2015) Michele Bertacchi et al.   Stem Cell Reports

NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

(2014) Daniëlle G.M. Bosch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening

(2014) Maria Marchese et al.   BMC Medical Genetics

Neural progenitors, neurogenesis and the evolution of the neocortex

(2014) M. Florio et al.   DEVELOPMENT

The double inhibition of endogenously produced BMP and Wnt factors synergistically triggers dorsal telencephalic differentiation of mouse ES cells

(2014) Michele Bertacchi et al.   Developmental Neurobiology

Malformations of cortical development: clinical features and genetic causes

(2014) Renzo Guerrini et al.   LANCET NEUROLOGY

Growth and folding of the mammalian cerebral cortex: from molecules to malformations

(2014) Tao Sun et al.   NATURE REVIEWS NEUROSCIENCE

Mechanisms of brain evolution: Regulation of neural progenitor cell diversity and cell cycle length

(2014) Victor Borrell et al.   NEUROSCIENCE RESEARCH

Neuronal subtype specification in establishing mammalian neocortical circuits

(2014) Takuma Kumamoto et al.   NEUROSCIENCE RESEARCH

Postmitotic control of sensory area specification during neocortical development

(2014) C. Alfano et al.   Nature Communications

NR2F1haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay

(2013) Hussam Al-Kateb et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Development of the Fetal Cerebral Cortex in the Second Trimester: Assessment with 7T Postmortem MR Imaging

(2013) Z. Zhang et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Trnp1 Regulates Expansion and Folding of the Mammalian Cerebral Cortex by Control of Radial Glial Fate

(2013) Ronny Stahl et al.   CELL

Pitx2 Expression Promotes p21 Expression and Cell Cycle Exit in Neural Stem Cells

(2013) Nina Heldring et al.   CNS & Neurological Disorders-Drug Targets

COUP-TFI controls activity-dependent tyrosine hydroxylase expression in adult dopaminergic olfactory bulb interneurons

(2013) S. Bovetti et al.   DEVELOPMENT

Regulation of cerebral cortex size and folding by expansion of basal progenitors

(2013) Miki Nonaka-Kinoshita et al.   EMBO JOURNAL

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

(2013) Silvia Cappello et al.   NATURE GENETICS

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

Pax6 Exerts Regional Control of Cortical Progenitor Proliferation via Direct Repression of Cdk6 and Hypophosphorylation of pRb

(2013) Da Mi et al.   NEURON

Mitotic spindle orientation predicts outer radial glial cell generation in human neocortex

(2013) Bridget E. LaMonica et al.   Nature Communications

Sonic Hedgehog Signaling Switches the Mode of Division in the Developing Nervous System

(2013) Murielle Saade et al.   Cell Reports

A developmental and genetic classification for malformations of cortical development: update 2012

(2012) A. James Barkovich et al.   BRAIN

The positional identity of mouse ES cell-generated neurons is affected by BMP signaling

(2012) Michele Bertacchi et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Neocortical arealization: Evolution, mechanisms, and open questions

(2012) Christian Alfano et al.   Developmental Neurobiology

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

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

Compartmentalization of Cerebral Cortical Germinal Zones in a Lissencephalic Primate and Gyrencephalic Rodent

(2011) F. Garcia-Moreno et al.   CEREBRAL CORTEX

Abundant Occurrence of Basal Radial Glia in the Subventricular Zone of Embryonic Neocortex of a Lissencephalic Primate, the Common Marmoset Callithrix jacchus

(2011) Iva Kelava et al.   CEREBRAL CORTEX

What disorders of cortical development tell us about the cortex: one plus one does not always make two

(2011) M Chiara Manzini et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The role of Pax6 in regulating the orientation and mode of cell division of progenitors in the mouse cerebral cortex

(2011) M. Asami et al.   DEVELOPMENT

COUP-TFI promotes radial migration and proper morphology of callosal projection neurons by repressing Rnd2 expression

(2011) C. Alfano et al.   DEVELOPMENT

Loss of COUP-TFI Alters the Balance between Caudal Ganglionic Eminence- and Medial Ganglionic Eminence-Derived Cortical Interneurons and Results in Resistance to Epilepsy

(2011) S. Lodato et al.   JOURNAL OF NEUROSCIENCE

A new subtype of progenitor cell in the mouse embryonic neocortex

(2011) Xiaoqun Wang et al.   NATURE NEUROSCIENCE

Neural stem and progenitor cells shorten S-phase on commitment to neuron production

(2011) Yoko Arai et al.   Nature Communications

The Generation of Superficial Cortical Layers Is Regulated by Levels of the Transcription Factor Pax6

(2010) Petrina A. Georgala et al.   CEREBRAL CORTEX

A Role for Intermediate Radial Glia in the Tangential Expansion of the Mammalian Cerebral Cortex

(2010) Isabel Reillo et al.   CEREBRAL CORTEX

COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis

(2010) K. Tang et al.   DEVELOPMENT

A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice

(2010) S. Tokuda et al.   HUMAN MOLECULAR GENETICS

Neurogenic radial glia in the outer subventricular zone of human neocortex

(2010) David V. Hansen et al.   NATURE

Area-specific temporal control of corticospinal motor neuron differentiation by COUP-TFI

(2010) Giulio Srubek Tomassy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness

(2009) Kerry K. Brown et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cdk4/CyclinD1 Overexpression in Neural Stem Cells Shortens G1, Delays Neurogenesis, and Promotes the Generation and Expansion of Basal Progenitors

(2009) Christian Lange et al.   Cell Stem Cell

Supramarginal gyrus involvement in visual word recognition

(2009) Cornelia Stoeckel et al.   CORTEX

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Insights From In Vitro Fetal Magnetic Resonance Imaging of Cerebral Development

(2009) Ivica Kostovic et al.   SEMINARS IN PERINATOLOGY

The Level of the Transcription Factor Pax6 Is Essential for Controlling the Balance between Neural Stem Cell Self-Renewal and Neurogenesis

(2009) Stephen N. Sansom et al.   PLoS Genetics

Cell Cycle Elongation Impairs Proliferation of Cerebellar Granule Cell Precursors in the Ts65Dn Mouse, an Animal Model for Down Syndrome

(2008) Andrea Contestabile et al.   BRAIN PATHOLOGY

Distinct behaviors of neural stem and progenitor cells underlie cortical neurogenesis

(2008) Stephen C. Noctor et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

(2008) C. Cardoso et al.   NEUROLOGY