A5083924405- Hypothalamic control of reproductive hormones
- Growth Hormone and Insulin-like Growth Factors
- Thyroid Disorders and Treatments
- Ovarian function and disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- French Urban and Social Studies
- Plant Reproductive Biology
- Social Sciences and Governance
- Education, sociology, and vocational training
- Neuropeptides and Animal Physiology
- Estrogen and related hormone effects
- Regulation of Appetite and Obesity
- Economic Theory and Policy
- Migration and Labor Dynamics
- Agricultural risk and resilience
- Monetary Policy and Economic Impact
- Receptor Mechanisms and Signaling
- Sexual Differentiation and Disorders
- Labor market dynamics and wage inequality
- Economic theories and models
- Neuroendocrine Tumor Research Advances
- Agriculture and Rural Development Research
- Genetics and Neurodevelopmental Disorders
- Aging, Elder Care, and Social Issues
- Birth, Development, and Health
Universidad de Los Andes
2011-2024
Université Paris Cité
2014-2024
Hôpital Robert-Debré
2013-2024
Laboratoire AstroParticule et Cosmologie
2024
Laboratoire de Biochimie
2008-2024
Institut National des Postes et Télécommunications
2024
Laboratoire de Biochimie
2008-2024
Inserm
2014-2023
Université de Reims Champagne-Ardenne
2023
Délégation Paris 7
2010-2022
Hypogonadotropic hypogonadism is defined as a deficiency of the pituitary secretion follicle-stimulating hormone and luteinizing hormone, which results in impairment pubertal maturation reproductive function. In absence or hypothalamic anatomical lesions anosmia (Kallmann syndrome), hypogonadotropic referred to isolated (IHH). A limited number IHH cases are due loss-of-function mutations gonadotropin-releasing receptor. To identify additional gene defects leading IHH, large consanguineous...
Hypogonadotropic hypogonadism is often associated with anosmia in a condition known as Kallmann's syndrome. The gene for the X-linked form of syndrome has been mapped to chromosome Xp22.3,1 and several mutations have described.2–4 In idiopathic hypogonadotropic there no anosmia, involved genes not characterized. One possible candidate gonadotropin-releasing hormone (GnRH), especially since hypogonadal mice deletion this identified.5 However, abnormality GnRH found patients hypogonadism.6–9...
Abstract Context: Loss of function the G protein-coupled receptor kisspeptins (GPR54) was recently described as a new cause isolated hypogonadotropic hypogonadism. In vivo studies performed in several species have confirmed major role neuroendocrine regulation gonadotropic axis and therefore sexual maturation. Objective: The objective this study to specify exact contribution GPR54 initiation puberty humans. Design: Detailed descriptions were five patients with hypogonadism bearing...
Research Article13 April 2016Open Access Source DataTransparent process IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty Sasha R Howard Centre for Endocrinology, William Harvey Institute, Barts and the London School of Medicine Dentistry, Queen Mary University London, UK Search more papers by this author Leonardo Guasti Gerard Ruiz-Babot Alessandra Mancini Alessia David Integrative Systems Biology Bioinformatics, Department Life...
Idiopathic central precocious puberty (iCPP) is defined as early activation of the hypothalamic-pituitary-gonadal axis in absence identifiable lesions. Mutations makorin RING finger 3 (MKRN3) gene are associated with iCPP. We aimed to assess frequency MKRN3 mutations iCPP and compare phenotypes patients without mutations.An observational study was carried out on recruited at pediatric hospitals France Italy. Forty-six index CPP cases were screened for coding sequence: 28 familial 18 did not...
We observed four families with loss of function mutations the TSH receptor gene. One patient had a homozygous Pro162 Ala substitution. The three other were compound heterozygotes: 1) Gln324-->Stop and Asp410 Asn2), Cys41 Ser Phe525 Leu, 3) Cys390 Trp Trp546-->Stop. In all patients, plasma concentration was increased, whereas T3 T4 concentrations normal. levels normal in heterozygous parents. These results confirmed recessive character defects. Expression various mutated receptors transfected...
<h3>OBJECTIVE</h3> To compare the results of pulmonary function tests (PFTs) and high resolution computed tomography (HRCT) lungs in rheumatoid arthritis (RA) patients. <h3>METHODS</h3> Sixty eight patients (54 women, 14 men) fulfilling revised criteria for RA were consecutively included a transversal prospective study. Their mean age was 58.8 years (range: 35–82) duration disease 12 5–16). Rheumatoid factor positive 52 (76.5%). Fifty two (76.5%) lifelong non-smokers. Detailed medical drug...
Until recently, neonatal hyperthyroidism has been considered to be related the transplacental passage of thyroid-stimulating Ig present in serum mother. We report here case a newborn who presented with severe hyperthyroidism, diffuse goiter, and important ocular signs (eyelid retraction possibly proptosis). However, absence thyroid pathology parents lack antithyroid antibodies mother patient led us suspect nonimmune aetiology. Direct genomic sequencing last exon TSH receptor revealed T-->C...
Detailed endocrinological studies were performed in the three affected kindred of a family carrying mutations GnRH receptor gene. All compound heterozygotes on one allele Arg262Gln mutation and other two (Gln106Arg Ser217Arg). When expressed heterologous cells, both Gln106Arg Ser217Arg altered hormone binding, whereas activation phospholipase C.
The G protein-coupled receptor 54 (GPR54), the kisspeptin receptor, is essential for stimulation of GnRH secretion and induction puberty. Recently loss-of-function mutations GPR54 have been implicated as a cause isolated idiopathic hypogonadotropic hypogonadism (IHH).The objective study was to identify genetic IHH in consanguineous pedigree characterize phenotypic features from infancy through early adulthood.In six patients with normosmic belonging two families Israeli Muslim-Arab origin...
Rabconnectin-3α and the control of puberty Human genetics shows that low levels rabconnectin-3α cause a loss neurons produce gonadotropin-releasing hormone, revealing new mechanism for incomplete infertility.
ABSTRACT Objective Pregnant women can be infected by severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2), yet the incidence of perinatal infection is low. We hypothesized that this could related to low expression membrane receptor for SARS‐CoV‐2, angiotensin‐converting enzyme (ACE2), in fetoplacental unit. evaluated protein ACE2 at various gestational ages both placentae and fetal organs from pregnancies not with SARS‐CoV‐2. Methods In May 2020, using samples a registered biobank,...
Hypothalamic gonadotropin releasing hormone (GnRH) is a key player in normal puberty and sexual development function. Genetic causes of isolated hypogonadotropic hypogonadism (IHH) have been identified during the recent years affecting synthesis, secretion, or action GnRH. Developmental defects GnRH neurons olfactory bulb are associated with hyposmia, rarely clinical phenotypes synkinesia, cleft palate, ear anomalies, choanal atresia, may be due to mutations KAL1, FGFR1/FGF8, PROKR2/PROK2,...
KiSS1 is a putative metastasis suppressor gene in melanoma and breast cancer-encoding kisspeptins, which are also described as neuroendocrine regulators of the gonadotropic axis. Negative well positive regulation expression by estradiol (E 2 ) has been reported hypothalamus. Estrogen receptor α (ERα level recognized marker cancer, raising question whether its G-protein-coupled ( GPR54 down- or upregulated estrogens cancer cells. was found to be expressed MDA-MB-231, MCF7, T47D cell lines,...
Delta-Like 1 Homolog, Dlk1, is a paternally imprinted gene encoding transmembrane protein involved in the differentiation of several cell types. After birth, Dlk1 expression decreases substantially all tissues except endocrine glands. deletion mice results pre-natal and post-natal growth deficiency, mild obesity, facial abnormalities, abnormal skeletal development, suggesting involvement perinatal survival, normal homeostasis fat deposition. A neuroendocrine function has also been suggested...
Within the last two decades, heterozygous loss-of-function PAX8 mutations have been reported in patients with a wide degree of thyroid gland dysfunction and growth despite presence identical mutations.To search for cohort congenital hypothyroidism (CH) various types defects.A cross-sectional study was conducted patients.The French neonatal screening program used recruiting patients.A total 118 CH, including 45 familial 73 sporadic diseases, were included this study. The normal 23 had...
The preservation of blood capital is essential in many clinical situations. laboratory, by optimizing the tubes to be sampled, provides valuable assistance this context. aim work study possibility analyzing an expanded panel usual biochemistry and automated hormonal parameters on a single tube: heparin lithium with separator gel. Thirty-two samples were analyzed for (ALT, uric acid, albumin, AST, bicarbonates, total bilirubin, calcium, chloride, creatine kinase, creatinine, iron, GGT,...
Abstract Neutrinos being massive could undergo non-radiative decay, a property for which the diffuse supernova neutrino background has unique sensitivity. We extend previous analyses to explore our ability disentangle predictions in presence or absence of two-body decay. In three-neutrino framework, we give corresponding fluxes and expected number events Super-Kamiokande+Gadolinium, Hyper-Kamiokande, JUNO DUNE experiments. analysis, employ simulations from different groups include current...