A5028202256- Congenital gastrointestinal and neural anomalies
- Genomics and Rare Diseases
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Congenital Ear and Nasal Anomalies
- Metabolism and Genetic Disorders
- Tracheal and airway disorders
- Congenital Anomalies and Fetal Surgery
- Hedgehog Signaling Pathway Studies
- Genetic Syndromes and Imprinting
- Craniofacial Disorders and Treatments
- Intestinal Malrotation and Obstruction Disorders
- Genetic and Kidney Cyst Diseases
- Congenital Diaphragmatic Hernia Studies
- RNA modifications and cancer
- Prenatal Screening and Diagnostics
- Digestive system and related health
- Fetal and Pediatric Neurological Disorders
- Connective tissue disorders research
- Epigenetics and DNA Methylation
- Cleft Lip and Palate Research
- Neuroscience of respiration and sleep
- RNA Research and Splicing
- Protein Tyrosine Phosphatases
Université Paris Cité
2016-2025
Inserm
2016-2025
Hôpital Necker-Enfants Malades
2016-2025
Institut des Maladies Génétiques Imagine
2016-2025
Assistance Publique – Hôpitaux de Paris
2016-2025
Human Genetic of Infectious Diseases
2016-2025
Sorbonne Paris Cité
2014-2023
Délégation Paris 5
2013-2022
Institut Necker Enfants Malades
2008-2022
Hôpital Robert-Debré
2021
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The cytokines controlling the development of human interleukin (IL) 17–producing T helper cells in vitro have been difficult to identify. We addressed question IL-17–producing vivo by quantifying production and secretion IL-17 fresh ex vivo, cell blasts expanded from patients with particular genetic traits affecting transforming growth factor (TGF) β, IL-1, IL-6, or IL-23 responses. Activating mutations TGFB1, TGFBR1, TGFBR2 (Camurati-Engelmann disease Marfan-like syndromes) loss-of-function...
Hypohidrotic and anhidrotic ectodermal dysplasia (HED/EDA) is a rare genodermatosis characterized by abnormal development of sweat glands, teeth, hair. Three disease-causing genes have been hitherto identified, namely, (1) EDA1 accounting for X-linked forms, (2) EDAR, (3) EDARADD, causing both autosomal dominant recessive forms. Recently, WNT10A gene was identified as responsible various forms dysplasias, including onycho-odonto-dermal (OODD) Schöpf-Schulz-Passarge syndrome. We...
MicroRNAs (miRNAs) are small non-coding RNAs that associate with Argonaute proteins to regulate gene expression at the post-transcriptional level in cytoplasm. However, recent studies have reported some miRNAs localize and function other cellular compartments. Mitochondria harbour their own genetic system may be a potential site for miRNA mediated regulation. We aimed investigating whether nuclear-encoded can human mitochondria. To enable identification of mitochondrial-enriched miRNAs, we...
Chromatin remodeling complexes are known to modify chemical marks on histones or induce conformational changes in the chromatin order regulate transcription. De novo dominant mutations different members of SWI/SNF complex have recently been described individuals with Coffin–Siris (CSS) and Nicolaides–Baraitser (NCBRS) syndromes. Using a combination whole-exome sequencing, NGS-based sequencing 23 genes, molecular karyotyping 46 previously undescribed CSS NCBRS, we identified de 1-bp deletion...
Hirschsprung disease (HSCR) is a common congenital malformation (1 in 5 000 live births) due to the absence of autonomic ganglia terminal hindgut, and resulting intestinal obstruction neonates. Recently, dominant gene for familial HSCR has been mapped chromosome sub-band 10q11.2 ascribed mutations tyrosine kinase receptor mapping this region, RETproto-oncogene. Studying 20 exons RET by combination denaturating gradient gel electrophoresis single strand conformation polymorphism large series...
Autism spectrum disorders (ASD) refer to a broader group of neurobiological conditions, pervasive developmental disorders. They are characterised by symptomatic triad associated with qualitative changes in social interactions, defect communication abilities, and repetitive stereotyped interests activities. ASD is prevalent 1 3 per 1000 people. Despite several arguments for strong genetic contribution, the molecular basis most cases remains unexplained. About 5% patients autism have...