Mathilde Lefebvre
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View article: Perinatal Maturation of Drug Transporters and Claudin‐5 at the Blood–Brain Barrier
Perinatal Maturation of Drug Transporters and Claudin‐5 at the Blood–Brain Barrier Open
Aim Cerebral capillary endothelial cells (EC) form the blood–brain barrier (BBB), which regulates molecular exchange between the blood and the brain. Understanding their function during brain development is essential for optimizing treatme…
View article: In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder
In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder Open
Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in PIGW. This rare disorder has previously been descr…
View article: Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective Open
Introduction Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by RLIM variations. Of the 41 patients reported, only 7 antenatal cases were described. Method After the antenatal diagnosis…
View article: The temporal balance between self-renewal and differentiation of human neural stem cells requires the amyloid precursor protein
The temporal balance between self-renewal and differentiation of human neural stem cells requires the amyloid precursor protein Open
Neurogenesis in the developing human cerebral cortex occurs at a particularly slow rate owing in part to cortical neural progenitors preserving their progenitor state for a relatively long time, while generating neurons. How this balance b…
View article: Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants Open
We examined more than 38,000 spouse pairs from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic and genetic patterns in parents associated with neurodevelopmental disease risk in children. We identified cor…
View article: Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta Open
Our study indicates that pathogenic variants in RARB are functionally heterogeneous and associated with extensive clinical heterogeneity.
View article: Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome) Open
Objective We aimed to gather fetal cases carrying a 7q11.23 copy number variation (CNV) and collect precise clinical data to broaden knowledge of antenatal features in these syndromes. Methods We retrospectively recruited unrelated cases w…
View article: In mice and humans, brain microvascular contractility matures postnatally Brain microvessel post-natal maturation
In mice and humans, brain microvascular contractility matures postnatally Brain microvessel post-natal maturation Open
Although great efforts to characterize the embryonic phase of brain microvascular system development have been made, its postnatal maturation has barely been described. Here, we compared the molecular and functional properties of brain vas…
View article: Tonate Virus and Fetal Abnormalities, French Guiana, 2019
Tonate Virus and Fetal Abnormalities, French Guiana, 2019 Open
We report a case of vertical transmission of Tonate virus in a pregnant woman from French Guiana. The fetus showed severe necrotic and hemorrhagic lesions of the brain and spinal cord. Clinicians should be made aware of possible adverse fe…
View article: CCR5 Blockade in Inflammatory PML and PML-IRIS Associated With Chronic Inflammatory Diseases' Treatments
CCR5 Blockade in Inflammatory PML and PML-IRIS Associated With Chronic Inflammatory Diseases' Treatments Open
This study provides Class IV evidence showing that adding maraviroc to the management of iatrogenic iPML/PML-IRIS does not improve the outcome.
View article: Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans Open
Hirschsprung disease (HSCR) is the most frequent developmental anomaly of the enteric nervous system, with an incidence of 1 in 5000 live births. Chronic intestinal pseudo-obstruction (CIPO) is less frequent and classified as neurogenic or…
View article: Long-lasting severe immune dysfunction in Ebola virus disease survivors
Long-lasting severe immune dysfunction in Ebola virus disease survivors Open
Clinical follow-up of Ebola virus disease (EVD) survivors revealed a persistence of clinical symptoms and higher risk of mortality. Long-term analyses of the immune and inflammatory profiles of EVD survivors are currently lacking. Here, we…
View article: Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features Open
The Xq28 duplication involving the MECP2 gene ( MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, on…
View article: Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders
Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders Open
Purpose To assess the contribution of rare variants in the genetic background towards variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive mutations. Methods We analyzed quan…
View article: Selective mitochondrial DNA degradation following double-strand breaks
Selective mitochondrial DNA degradation following double-strand breaks Open
Mitochondrial DNA (mtDNA) can undergo double-strand breaks (DSBs), caused by defective replication, or by various endogenous or exogenous sources, such as reactive oxygen species, chemotherapeutic agents or ionizing radiations. MtDNA encod…
View article: Additional file 8: of Identification of novel candidate disease genes from de novo exonic copy number variants
Additional file 8: of Identification of novel candidate disease genes from de novo exonic copy number variants Open
Supplementary figure presenting CNVs in CSMD1, including de novo (red), inherited (blue), and deletions of unknown inheritance (green). (PPTX 95 kb)