A5101428974- Estrogen and related hormone effects
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Steroid Chemistry and Biochemistry
- Hereditary Neurological Disorders
- Hypothalamic control of reproductive hormones
- Sexual Differentiation and Disorders
- Hormonal Regulation and Hypertension
- RNA regulation and disease
- Reproductive System and Pregnancy
- Pituitary Gland Disorders and Treatments
- Pediatric Hepatobiliary Diseases and Treatments
- Renal and related cancers
- Hormonal and reproductive studies
- Caveolin-1 and cellular processes
- RNA and protein synthesis mechanisms
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Cellular transport and secretion
- Neuropeptides and Animal Physiology
- Gallbladder and Bile Duct Disorders
- Genomics and Chromatin Dynamics
- Ovarian cancer diagnosis and treatment
- Peripheral Neuropathies and Disorders
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Adrenal Hormones and Disorders
Bicêtre Hospital
2012-2024
Assistance Publique – Hôpitaux de Paris
2012-2024
Physiologie et Physiopathlogie Endocriniennes
2024
Université Paris-Sud
2011-2019
Inserm
1999-2018
Université Paris-Saclay
2018
Hôpitaux Universitaires Paris-Ouest
2014-2018
Université Paris Cité
2007
UMD-DMD France is a knowledgebase developed through multicenter academic effort to provide an up-to-date resource of curated information covering all identified mutations in patients with dystrophinopathy. The current release includes 2,411 entries consisting 2,084 independent mutational events 2,046 male and 38 expressing females, which corresponds estimated number 39 people per million genetic diagnosis dystrophinopathy France. Mutations consist 1,404 large deletions, 215 duplications, 465...
Charcot–Marie–Tooth neuropathy has been reported to be associated with renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, the common mechanisms underlying and FSGS remain unknown. Mutations in INF2 were recently identified patients autosomal dominant FSGS. encodes a formin protein that interacts Rho-GTPase CDC42 myelin lymphocyte (MAL) are implicated essential steps of myelination maintenance. We therefore hypothesized may responsible for cases
Two lambda gt11 clones containing fragments of cDNA encoding the rabbit progesterone receptor were isolated with aid monoclonal and monospecific polyclonal antireceptor antibodies. RNA gel blot analysis showed that corresponding mRNA was approximately equal to 5900 nucleotides in size present uterus, where its concentration increased by estrogen treatment, vagina. This not detected liver, spleen, intestine, kidney protein is known be absent or very small concentration. Cross-hybridizing from...
SUMO-1 (small ubiquitin-like modifier) conjugation regulates the subcellular localization, stability, and activity of a variety proteins. We show here that overexpression markedly enhances progesterone receptor (PR)-mediated gene transcription. PR undergoes sumoylation at lysine 388 located in its N-terminal domain. However, is not responsible for enhanced transcription because substitution target did abolish effect even converted into slightly more active transactivator. Furthermore...
Pituitary stalk interruption represents a frequent feature of congenital hypopituitarism, but only rare cases have been assigned to known genetic cause.Using candidate gene approach, we tested several genes as potential causes hypopituitarism with pituitary interruption. We hypothesized that ectopic posterior may be consequence defective neuronal axon projections along the or angiogenesis hypophyseal portal circulation. Considering role prokineticin 2 pathway in and migration, screened PROK2...
Small fiber neuropathy (SFN) is an important feature of transthyretin familial amyloid polyneuropathy (TTR-FAP). A practical and objective method for the clinical evaluation SFN needed to improve management this disease. In vivo confocal microscopy (IVCM) corneal nerves, a rapid noninvasive technique, may be used as surrogate marker SFN.To determine correlation with IVCM in patients TTR-FAP.A prospective, single-center, cross-sectional controlled study was conducted at French National...
We describe the case of a girl with an unusual congenital phenotype, combining peculiar peripheral nerve lesions hypomyelination, chronic intestinal pseudoobstruction, and deafness. She was found to have de novo heterozygous frameshift mutation in gene encoding SOX10 transcription factor. The likely role determining fate Schwann cells during early embryogenesis may explain nervous system developmental disorder observed this patient.
Several nuclear proteins, including steroid hormone receptors, have been shown to shuttle continuously between the nucleus and cytoplasm. The mechanism of entry proteins into is well documented, whereas their outward movement cytoplasm not understood. We grafted localization signals progesterone receptor or simian virus 40 large tumor antigen onto beta-galactosidase. These additions were impart protein ability Microinjected devoid a signal unable exit from nucleus. same are thus involved in...
Progesterone receptor isoforms (PRA and PRB) are expressed at equal levels in normal mammary cells. However, alteration PRA/PRB expression is often observed aggressive breast cancer suggesting differential contribution of PR carcinogenesis. The mechanisms underlying such processes remain to be established mainly due paucity appropriate cellular models. To investigate the role impact imbalanced ratio transcriptional regulation, we have generated an original human cell line conditionally...
Recently discovered mutations of NR3C1 gene, encoding for the GR, in patients with glucocorticoid resistance and bilateral adrenal incidentalomas prompted us to investigate whether GR might be associated hyperplasia.The multicenter French Clinical Research Program (Muta-GR) was set up determine prevalence polymorphisms harboring hypertension and/or biological hypercortisolism without clinical Cushing's signs.One hundred were included whom sequencing revealed five original heterozygous that...
The binding of a steroid hormone to its receptor elicits sequence events: activation the (probably through dissociation from complex heat shock proteins), dimerization, responsive elements, and finally modulation gene transcription. RU 486, first antiprogestin studied, has been shown act at last step this sequence: provoking an inefficient elements. Recently, based on in vitro studies, it proposed that ZK 98299 was prototype second class antiprogestins were supposed disruption DNA. We have...
Progesterone receptor (PR) isoforms (PRA and PRB) are implicated in the progression of breast cancers frequently associated with imbalanced PRA/PRB expression ratio. Antiprogestins represent potential antitumorigenic agents for such hormone-dependent cancers. To investigate mechanism(s) controlling PR degradation/stability context agonist antagonist ligands, we used endometrial mammary cancer cells stably expressing PRA and/or PRB. We found that antiprogestin RU486 inhibited agonist-induced...
Background and purpose The aim is to describe an uncommon phenotype of hereditary ATTR neuropathy with upper limb onset. Methods French TTR Familial Amyloid Polyneuropathy database was used for a retrospective evaluation 32 consecutive patients onset the (study group) they were compared 31 Portuguese early‐onset 99 late‐onset without Results Initial symptoms mostly sensory. Lower began 2.3 ± 3 years after symptoms. Twenty‐four (75%) initially misdiagnosed, 15 different diagnoses. More in...
Steroid hormone receptors are ligand-stimulated transcription factors that modulate gene by recruiting coregulators to promoters. Subcellular localization and dynamic movements of have been shown be one the major means regulating their transcriptional activity. In present report we describe subcellular dynamics intracellular trafficking steroid receptor coactivator 1 (SRC-1). After its synthesis in cytoplasm, SRC-1 is imported into nucleus, where it activates subsequently exported back...
In the nervous system, glucocorticoid hormones play a major role during development and throughout life. We studied mechanisms of action receptor (GR) its interactions with p160 coactivator family members [steroid (SRC)-1 (a e), SRC-2 SRC-3] in mouse Schwann cells (MSC80). found that three p160s were expressed MSC80 cells. have shown by functional overexpression RNA interference experiments recruitment these coactivators GR is promoter dependent. A minimal containing two response elements,...
Progressive familial intrahepatic cholestasis (PFIC) and to a lesser extent, Alagille syndrome, often lead end-stage liver disease during childhood. We report our experience of DNA-based prenatal diagnosis PFIC1-3 syndrome.Four molecular antenatal diagnoses were performed in 3 PFIC families 17 11 syndrome families. DNA was isolated from chorionic villus or cultured amniocyte samples women, without pregnancy complications.All four foetuses with family history PFIC1, 2, heterozygous for an...
Serpentine fibula-polycystic kidney syndrome (SFPKS) is a rare disorder characterized by the association of craniofacial anomalies, radiological findings (wormian bones, elongated and bowed fibulae), polycystic kidneys, normal intelligence. SFPKS shares many similarities with Hajdu-Cheney (HCS). We others recently showed that truncating mutations in last exon NOTCH2 cause HCS. Here, we identify Sanger sequencing two different heterozygous unrelated patients SFPKS. In one family, show...
The progesterone receptor (PR), a ligand-activated transcription factor, recruits the primary coactivator steroid coactivator-1 (SRC-1) gene promoters. It is known that PR transcriptional activity paradoxically coupled to its ligand-dependent down-regulation. However, despite importance in function, regulation of SRC-1 expression level during hormonal exposure poorly understood. Here we report (but not other p160 family members) down-regulated by agonist ligand R5020 PR-dependent manner. In...