Emanuela Argilli
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View article: RBMX functional retrocopy safeguards brain development
RBMX functional retrocopy safeguards brain development Open
Retrotransposition has generated thousands of intronless gene copies in mammalian genomes, yet their contribution to brain development and evolution remains largely unexplored. Here we uncover a critical role for RBMX retrocopy in shaping …
View article: Dominant negative variants in CUL1 of the ubiquitin-proteasome cause a neurodevelopmental syndrome
Dominant negative variants in CUL1 of the ubiquitin-proteasome cause a neurodevelopmental syndrome Open
CUL1 encodes a scaffolding protein of the SKP1-CUL1-F-box E3 ubiquitin ligase complex, which mediates substrate ubiquitination and proteasomal degradation. Despite CUL1’s essential roles, it has not been implicated in human disease. We ide…
View article: <i>De novo</i>variants of<i>NALCN</i>differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN current
<i>De novo</i>variants of<i>NALCN</i>differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN current Open
The Na + leak channel NALCN regulates the resting membrane potential and consequently cell excitability of several cell types, including neurons. Studies of animal models demonstrated that NALCN is involved in fundamental physiological fun…
View article: Missense<i>ABI2</i>variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities
Missense<i>ABI2</i>variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities Open
The Abelson-interactor 2 gene ( ABI2) encodes a protein that functions as a regulator of Rac-dependent actin cytoskeleton dynamics, a highly coordinated structural framework essential for maintaining intracellular homeostasis and vital in …
View article: <i>MBOAT7</i> encephalopathy: Characterizing the neurology and epileptology
<i>MBOAT7</i> encephalopathy: Characterizing the neurology and epileptology Open
Objective Biallelic pathogenic MBOAT7 variants are associated with neurodevelopmental disorders, intellectual disability (ID), epilepsy, and neuropsychiatric disorders such as attention‐deficit/hyperactivity disorder and autism spectrum di…
View article: <i>CDK13</i> ‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management
<i>CDK13</i> ‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management Open
In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in CDK13 and sharing major clinical features mainly consisting of congenital heart defects, intellectual disability and peculiar…
View article: Pancreatic Involvement in Epg5-Related Disorders
Pancreatic Involvement in Epg5-Related Disorders Open
View article: Basic helix-loop-helix transcription factor<i>BHLHE22</i>monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities
Basic helix-loop-helix transcription factor<i>BHLHE22</i>monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities Open
BHLHE22 encodes a Class II basic helix-loop-helix transcription factor (bHLH). It is expressed exclusively in the retina and central nervous system (CNS), and functions as an important regulator of retinogenesis and neuronal differentiatio…
View article: Monoallelic de novo <i>AJAP1</i> loss-of-function variants disrupt trans-synaptic control of neurotransmitter release
Monoallelic de novo <i>AJAP1</i> loss-of-function variants disrupt trans-synaptic control of neurotransmitter release Open
Adherens junction–associated protein 1 (AJAP1) has been implicated in brain diseases; however, a pathogenic mechanism has not been identified. AJAP1 is widely expressed in neurons and binds to γ-aminobutyric acid type B receptors (GBRs), w…
View article: Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease Open
View article: Gain-of-function and loss-of-function variants in <i>GRIA3</i> lead to distinct neurodevelopmental phenotypes
Gain-of-function and loss-of-function variants in <i>GRIA3</i> lead to distinct neurodevelopmental phenotypes Open
AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1–GRIA4 genes, of which onl…
View article: Loss-of-function variants in <i>ZEB1</i> cause dominant anomalies of the corpus callosum with favourable cognitive prognosis
Loss-of-function variants in <i>ZEB1</i> cause dominant anomalies of the corpus callosum with favourable cognitive prognosis Open
Background The neurodevelopmental prognosis of anomalies of the corpus callosum (ACC), one of the most frequent brain malformations, varies extremely, ranging from normal development to profound intellectual disability (ID). Numerous genes…
View article: Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration Open
View article: <i>ARF1</i>-related disorder: phenotypic and molecular spectrum
<i>ARF1</i>-related disorder: phenotypic and molecular spectrum Open
Purpose ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of th…
View article: P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*
P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies* Open
View article: Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies Open
LNPK encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in LNPK were shown to cause a neurode…
View article: De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities Open
View article: Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration Open
By converting physical forces into electrical signals or triggering intracellular cascades, stretch-activated ion channels (SACs) allow the cell to respond to osmotic and mechanical stress. Knowledge of the pathophysiological mechanisms un…
View article: Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X Open
View article: Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis Open
View article: <i>ATP6V0C</i> variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy
<i>ATP6V0C</i> variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy Open
The vacuolar H+-ATPase is an enzymatic complex that functions in an ATP-dependent manner to pump protons across membranes and acidify organelles, thereby creating the proton/pH gradient required for membrane trafficking by several differen…
View article: Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling Open
View article: De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities
De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities Open
View article: Systematic analysis and prediction of genes associated with disorders on chromosome X
Systematic analysis and prediction of genes associated with disorders on chromosome X Open
Disease gene discovery on chromosome (chr) X is challenging owing to its unique modes of inheritance. We undertook a systematic analysis of human chrX genes. We observe a higher proportion of disorder-associated genes and an enrichment of …
View article: Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders Open
View article: O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum Open
Background O’Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, mostly truncating variants in KMT2E . It was first described by O’Donnell-Luria et al in 2019 in a cohort of 38 p…
View article: Autism-associated biomarkers: test–retest reliability and relationship to quantitative social trait variation in rhesus monkeys
Autism-associated biomarkers: test–retest reliability and relationship to quantitative social trait variation in rhesus monkeys Open
Background Rhesus monkeys ( Macaca mulatta ) exhibit pronounced individual differences in social traits as measured by the macaque Social Responsiveness Scale-Revised. The macaque Social Responsiveness Scale was previously adapted from the…
View article: Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders Open
View article: Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder Open
BCAS3 microtubule-associated cell migration factor (BCAS3) is a large, highly conserved cytoskeletal protein previously proposed to be critical in angiogenesis and implicated in human embryogenesis and tumorigenesis. Here, we established B…
View article: Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities Open