Andrée Delahaye‐Duriez
A5069418256- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Chromosomal and Genetic Variations
- Bioinformatics and Genomic Networks
- CRISPR and Genetic Engineering
- Computational Drug Discovery Methods
- Infectious Diseases and Tuberculosis
- RNA and protein synthesis mechanisms
- RNA Research and Splicing
- Ocular Disorders and Treatments
- Epigenetics and DNA Methylation
- Neonatal and fetal brain pathology
- Neuroinflammation and Neurodegeneration Mechanisms
- Congenital Ear and Nasal Anomalies
- Fetal and Pediatric Neurological Disorders
- RNA modifications and cancer
- Connexins and lens biology
- Hematological disorders and diagnostics
- Retinal Development and Disorders
- RNA regulation and disease
- Genetic Syndromes and Imprinting
- Machine Learning and Algorithms
Université Sorbonne Paris Nord
2016-2025
NeuroDiderot
2015-2025
Hôpital Jean-Verdier
2016-2025
Sorbonne Université
2021-2025
Hôpital Robert-Debré
2011-2025
Assistance Publique – Hôpitaux de Paris
2013-2024
Université Paris Cité
2014-2024
Inserm
2015-2024
Délégation Paris 7
2016-2024
Université de Strasbourg
2024
Microglia of the developing brain have unique functional properties but how their activation states are regulated is poorly understood. Inflammatory microglia in still-developing preterm-born infants associated with permanent neurological sequelae 9 million every year. Investigating regulators microglial across models neuroinflammation-mediated injury (mouse, zebrafish) and primary human mouse we found using analysis genes proteins that a reduction Wnt/β-catenin signalling necessary...
Anophthalmia and microphthalmia (AM) are the most severe malformations of eye, corresponding respectively to reduced size or absent ocular globe. Wide genetic heterogeneity has been reported different genes have demonstrated be causative syndromic non-syndromic forms AM. We screened seven AM [GDF6 (growth differentiation factor 6), FOXE3 (forkhead box E3), OTX2 (orthodenticle protein homolog 2), PAX6 (paired RAX (retina anterior neural fold homeobox), SOX2 (SRY sex determining region Y-box...
Abstract The identification of drug targets is highly challenging, particularly for diseases the brain. To address this problem, we developed and experimentally validated a general computational framework target discovery that combines gene regulatory information with causal reasoning (“Causal Reasoning Analytical Framework Target discovery”—CRAFT). Using systems genetics approach starting from expression data tissue, CRAFT provides predictive identifying cell membrane receptors...
SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and development nervous system. Despite its important developmental roles, disruption has yet to be associated with human disease. We report one individual reciprocal translocation breakpoint within SOX5, eight individuals intragenic deletions (four are apparently de novo inherited from an affected parent), seven larger 12p12 encompassing SOX5. Common features these subjects include prominent speech delay,...
The relationship between monogenic and polygenic forms of epilepsy is poorly understood the extent to which genetic acquired epilepsies share common pathways unclear. Here, we use an integrated systems-level analysis brain gene expression data identify molecular networks disrupted in epilepsy. We identified a co-expression network 320 genes (M30), significantly enriched for non-synonymous de novo mutations ascertained from patients with variants associated M30 are expressed widely human...
KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and skeletal anomalies. We report a clinical molecular study of 39 patients affected syndrome. Among them, 19 were diagnosed after the detection 16q24.3 deletion encompassing gene array CGH. In 20 remaining patients, suspicion was confirmed identification an mutation direct sequencing. present arguments modulate previously reported diagnostic criteria. Macrodontia...
<h3>Background</h3> Homozygous mutations in <i>WWOX</i> were reported eight individuals of two families with autosomal recessive spinocerebellar ataxia type 12 and siblings infantile epileptic encephalopathy (IEE), including one who deceased prior to DNA sampling. <h3>Methods</h3> By combining array comparative genomic hybridisation, targeted Sanger sequencing next generation sequencing, we identified five further patients from four IEE due biallelic alterations <i>WWOX</i>. <h3>Results</h3>...
The recoding of genetic information through RNA editing contributes to proteomic diversity, but the extent and significance in disease is poorly understood. In particular, few studies have investigated relationship between at a genome-wide level. Here, we developed framework for detection sites that are differentially edited disease. Using RNA-sequencing data from 100 hippocampi mice with epilepsy (pilocarpine–temporal lobe model) healthy control hippocampi, identified 256 (overlapping 87...
Background The clinical significance of 16p13.11 duplications remains controversial while frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or autism spectrum disorder (ASD). Previously reported were not poorly characterised. absence consensual recommendations leads to interpretation discrepancy and makes genetic counselling challenging. This study aims decipher the genotype–phenotype correlations improve patients’ medical care. Methods We...
Background Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the diagnosis rates of AMC, evaluate added value whole exome sequencing (WES) compared with targeted (TES) identify new genes 315 unrelated undiagnosed families. Methods Several genomic approaches used including mapping disease loci consanguineous families, TES then WES. Sanger was...
CHARGE syndrome (OMIM #214800) is a multiple malformation with distinctive diagnostic criteria, usually because of CHD7 (chromodomain helicase DNA binding 7) haploinsufficiency. Familial occurrence rare. We report six patients from two Caucasian families (both one parent and children) affected by mild to severe syndrome. Direct sequencing the gene was performed in these unrelated families. A mutation exon 8 (c.2501C>T - p.S834F) first chromodomain found family nonsense 2 (c.469C>T p.R157X)...
Background: Anaplastic thyroid carcinoma (ATC) is a rare and frequently fatal type of cancer. The degree heterogeneity in survival rates for ATC incompletely studied. This study evaluated the factors associated with overall (OS) patients using multicenter real-world data from national tertiary care center network France. Methods: In this multicenter, retrospective cohort study, all diagnosed between 2010 2020 were identified database French ENDOCAN-TUTHYREF network. Factors OS examined...
Abstract Mutations in the cyclin‐dependent kinase‐like 5 gene ( CDKL5 ) have been described epileptic encephalopathies females with infantile spasms features that overlap Rett syndrome. With more than 80 reported patients, phenotype of ‐related encephalopathy is well‐defined. The main consist seizures starting before 6 months age, severe intellectual disability absent speech and hand stereotypies deceleration head growth, which resembles However, some clinical discrepancies suggested...
16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms dental anomalies, brain abnormalities essentially affecting corpus callosum and short stature. On other hand, patients carrying either deletions encompassing solely or its loss-of-function variants were reported in association KBG syndrome, very similar phenotype, including...
Highlights•MCPH1 expression is prominent in RGCs during the early stages of neocortical development•Early loss aRGCs due to Mcph1 mutation induces microcephaly mouse neocortex•Mcph1 influences cell proliferation and survival via crosstalk with metabolic pathways•Mcph1 stimulates mitochondrial activity glutaminolysis interaction VDAC1SummaryA distinctive feature development highly coordinated production different progenitor subtypes, which are critical for ensuring adequate neurogenic outcome...
Abstract Objective Familial Mediterranean fever (FMF) is an autosomal‐recessive disorder characterized by recurrent attacks of fever, with abdominal, thoracic, or articular pain. FMF particularly common in populations, while other populations are rarely affected. MEFV gene analysis provides the only objective diagnostic criterion for FMF. However, spectrum mutations, which was first established classically affected remains insufficiently studied populations. The purpose this study to assess...