A5066785646- Cerebrovascular and genetic disorders
- Moyamoya disease diagnosis and treatment
- Intracranial Aneurysms: Treatment and Complications
- Vascular Malformations Diagnosis and Treatment
- Hepatitis B Virus Studies
- Intracerebral and Subarachnoid Hemorrhage Research
- Hepatitis C virus research
- Hypothalamic control of reproductive hormones
- Connective tissue disorders research
- Cell Adhesion Molecules Research
- Viral gastroenteritis research and epidemiology
- Neurological Complications and Syndromes
- Ubiquitin and proteasome pathways
- RNA Interference and Gene Delivery
- Immunotherapy and Immune Responses
- Meningioma and schwannoma management
- Mitochondrial Function and Pathology
- Aortic Disease and Treatment Approaches
- RNA Research and Splicing
- Hepatitis Viruses Studies and Epidemiology
- Neurological Disorders and Treatments
- RNA regulation and disease
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sexual Differentiation and Disorders
- Neurological Disease Mechanisms and Treatments
Université Paris Cité
2011-2025
Inserm
2011-2025
NeuroDiderot
2015-2025
Sorbonne Paris Cité
2014-2024
Délégation Paris 7
2006-2021
Physiopathologie et Epidémiologie des Maladies Respiratoires
2015-2017
Children's Hospital of Philadelphia
2014
University of Pennsylvania
2014
Assistance Publique – Hôpitaux de Paris
2009-2014
Institut National de Recherche en Santé Publique
2013
Abstract Objective To compare clinical features of CCM1, CCM2, and CCM3 mutation carriers. Methods A detailed molecular analysis 163 consecutive cerebral cavernous malformation (CCM) families was performed. Results deleterious detected in 128 probands. Three hundred thirty‐three carriers were identified (238 67 28 CCM3). Ninety‐four percent the probands with an affected relative had a compared 57% multiple lesions but no ( p < 0.001). The number individuals per family lower 0.05)....
Cerebral small vessel disease represents a heterogeneous group of disorders leading to stroke and cognitive impairment. While most diseases appear sporadic related age hypertension, several early-onset monogenic forms have also been reported. However, only minority patients with familial carry mutations in one known genes. We used whole exome sequencing identify candidate genes an autosomal dominant family which had excluded, subsequently screened all 201 unrelated probands unknown...
Mutations of CCM3/PDCD10 cause 10-15% hereditary cerebral cavernous malformations. The phenotypic characterization CCM3-mutated patients has been hampered by the limited number harboring a mutation in this gene. This is first report on molecular and clinical features large cohort CCM3 patients. Molecular screening for point mutations deletions was used to identify 54 index Age at referral onset, type inaugural events presence extra-axial lesions were investigated these 22 their mutated...
Objective Cerebral small vessel disease (cSVD) is a heterogeneous group of disorders. Screening known cSVD genes identifies the causative mutation in <15% familial cases. We sought to identify novel causes cSVD. Methods used linkage analysis and exome sequencing causal French family. The identified candidate gene was then screened 202 unrelated probands, including 1 proband from first reported pontine autosomal dominant microangiopathy with leukoencephalopathy (PADMAL) Sanger confirm...
Importance Cerebral small vessel diseases (CSVDs) account for one-fifth of stroke cases. Numerous familial cases remain unresolved after routine screening known CSVD genes. Objective To identify novel genes and mechanisms associated with CSVD. Design, Setting, Participants This 2-stage study involved linkage analysis a case-control study; whole exome genome sequencing were used to candidate gene variants in 2 large families (9 patients CSVD). Then, was conducted on 246 unrelated probands,...
It was previously established that the administration of a potent GnRH agonist such as triptorelin (D-Trp6-GnRH) induced desensitization pituitary gonadotropic cells, resulting in decreased expression gonadotropin beta-subunit genes and suppression LH FSH synthesis release. Binding to is also affected by treatment. To examine desensitizing effects on receptor (GnRH-R) gene, male rats were given (long-acting formulation, 300 micrograms/kg), levels GnRH-R messenger RNA (mRNA) determined...
<h3>Background</h3> Moyamoya angiopathy (MMA) is characterised by a progressive stenosis of the terminal part internal carotid arteries and development abnormal collateral deep vessels. Its pathophysiology unknown. MMA can be sole manifestation disease (moyamoya disease) or associated with various conditions syndrome) including some Mendelian diseases. We aimed to investigate genetic basis moyamoya using whole exome sequencing (WES) approach conducted in sporadic cases without any overt...
Background and Purpose Moyamoya angiopathy (MMA) is a rare cerebral vasculopathy outside of Asia. In Japanese patients, vast majority patients carry the founder p.R4810K variant in RNF213 gene, familial cases are around 10%. European data about occurrence limited. The aim this study was to characterize clinical molecular features several families with parent-to-child transmission MMA. Methods Out 126 MMA probands referred, we identified 113 sporadic 13 probands. Segregation analysis showed...
BACKGROUND: A novel genetic cerebral small vessel disease, linked to the insertion of a mobile element in COL4A1 gene has recently been identified. Notably, 8 out 10 families carrying this mutation were known come from Brittany, specific region France, suggesting possibility common ancestor and founder effect. METHODS: Probands each analyzed with high-density SNP arrays. Bioinformatics tools used identify identical-by-descent chromosomal segments shared among probands. RESULTS: Two shown be...
ABSTRACT Mammalian hepatitis B viruses encode an essential regulatory protein, termed X, which may also be implicated in liver cancer development associated with chronic infection. X referred to as HBx human virus and WHx woodchuck virus, has been reported bind a number of cellular proteins, including the DDB1 subunit damaged DNA-binding (DDB) complex. Our previous work provided genetic evidence for importance WHx-DDB1 interaction both activity protein establishment viral infection...
Abstract Heterozygous missense HTRA1 mutations have been associated with an autosomal dominant cerebral small vessel disease (CSVD) whereas the pathogenicity of heterozygous stop codon variants is unclear. We performed a targeted high throughput sequencing all known CSVD genes, including HTRA1, in 3853 unrelated consecutive patients referred for molecular diagnosis. The frequency leading to premature this patient cohort was compared their large control databases. An analysis mRNA several...
The expression pattern of the GnRH receptor was investigated in a variety normal and neoplastic human tissues by RT-PCR-Southern blotting. In addition to full-length cDNA (sb1), we identified two other transcripts: first (sb2) characterized 128 bp deletion as previously described; second an unexpected finding composed shorter (sb3), sequence which revealed 220 corresponding size exon 2. These three transcripts were found pituitary adenomas, granulosa tumors, but not testis, where sb2...
The Heart of Glass (HEG) receptor binds KRIT1 and functions with KRIT1, CCM2, PDCD10 in a common signaling pathway required for heart vascular development. Mutations also underlie human cerebral cavernous malformation (CCM) postnatal loss these genes the mouse endothelium results rapid CCM formation. Here, we test role HEG formation mice humans.We constitutively or conditionally deleted Heg Ccm2 genetically modified mice. Mouse embryos, brain, retina tissues were analyzed to assess lesion...