A5043088478- Pancreatic function and diabetes
- Metabolism, Diabetes, and Cancer
- Diabetes and associated disorders
- Diabetes Management and Research
- Diabetes Treatment and Management
- Urban and sociocultural dynamics
- Electrolyte and hormonal disorders
- Diet, Metabolism, and Disease
- Chronic Kidney Disease and Diabetes
- Social and Economic Solidarity
- Hormonal Regulation and Hypertension
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Adipose Tissue and Metabolism
- RNA modifications and cancer
- Birth, Development, and Health
- Advanced Glycation End Products research
- Cardiovascular Function and Risk Factors
- Peripheral Artery Disease Management
- Electrochemical sensors and biosensors
- Diabetic Foot Ulcer Assessment and Management
- Ion Transport and Channel Regulation
- Urban Development and Societal Issues
- Youth, Drugs, and Violence
- Apelin-related biomedical research
- Diet and metabolism studies
Institut Necker Enfants Malades
2007-2025
Université Paris Cité
2013-2025
Inserm
2015-2025
Centre National de la Recherche Scientifique
1996-2025
Centre de Recherche des Cordeliers
2014-2021
Sorbonne Université
2004-2021
Universidad Autónoma del Estado de Hidalgo
2021
Sorbonne Paris Cité
2013-2020
Université d'Angers
2019
Metabolism and Renal Physiology
2018
Non-insulin-dependent diabetes mellitus (NIDDM) is a genetically heterogeneous disorder. Maturity-onset of the young, form NIDDM with an early age onset and autosomal dominant inheritance, can result from mutations in glucokinase, key enzyme glucose metabolism beta cells liver. We studied 32 French families maturity-onset young as well 21 late-onset to determine frequency clinical features glucokinase. Fasting plasma concentrations oral glucose-tolerance tests were used metabolic status. DNA...
Background: Maturity-onset diabetes of the young type 5 (MODY5), a dominantly inherited mellitus and nephropathy, has been associated with mutations hepatocyte nuclear factor-1β (HNF-1β) gene, mostly generating truncated protein. Various phenotypes, including urogenital malformations, are related to HNF-1β mutations. Objective: To describe clinical genetic findings in 13 patients 8 novel Design: Multicenter, descriptive study. Setting: 2 departments diabetes, 1 department internal medicine,...
Mutations in the gene for transcription factor hepatocyte nuclear (HNF) 1alpha cause maturity-onset diabetes of young (MODY) 3, a form that results from defects insulin secretion. Since nature these has not been defined, we compared secretory function heterozygous [HNF-1alpha (+/-)] or homozygous (-/-)] mice with null mutations HNF-1alpha their wild-type littermates (+/+)]. Blood glucose concentrations were similar (+/+) and (+/-) (7.8+/-0.2 7.9+/-0.3 mM), but significantly higher (-/-)...
Maturity-onset diabetes of the young (MODY) 5 is caused by mutations in TCF2 gene encoding transcription factor hepatocyte nuclear factor-1beta. However, 60% patients with a phenotype suggesting MODY5, no point mutation detected TCF2. We have hypothesized that large genomic rearrangements are missed conventional screening methods may account for this observation. In 40 unrelated presenting MODY5 phenotype, was screened sequencing. Patients without were then quantitative multiplex PCR short...
One form of maturity-onset diabetes the young (MODY) results from mutations in a gene, designated MODY3, located on chromosome 12 band q24. The present study was undertaken to define interactions between glucose and insulin secretion rate (ISR) subjects with MODY3. Of 13 MODY3 subjects, six normal fasting glycosylated hemoglobin seven overtly diabetic were studied as nondiabetic control subjects. Each subject received graded intravenous infusions two occasions separated by 42-h continuous...
Non-insulin-dependent diabetes mellitus (NIDDM) is considered a model of premature atherosclerosis with strong genetic component. We have investigated the role angiotensin-converting enzyme (ACE; EC 3.4.15.1) gene in 316 unrelated NIDDM individuals, 132 who had myocardial infarction or significant coronary stenoses and 184 no history heart disease (CHD). A deletion-polymorphism ACE was recently reported to be associated especially people classified as low risk. Here we report that D allele...
All glucokinase gene mutations identified to date have been localized exons that are common the pancreatic and hepatic isoforms of enzyme. While impaired insulin secretion has observed in glucokinase-deficient subjects consequences this mutation on glucose metabolism remain unknown. To examine question glycogen concentration was measured seven with normal glycosylated hemoglobin 12 control using 13C nuclear magnetic spectroscopy during a day which three isocaloric mixed meals were ingested....
We have recently reported an A to G transition at nucleotide position 3243 in the mitochondrial DNA (mtDNA) tRNALeu(UUR)) gene a large family with non-insulin-dependent diabetes mellitus (NIDDM). Characteristic was its maternal transmission and associated sensorineural hearing loss. In screening of Dutch French NIDDM population for presence mutation we identified two new pedigrees which is present combination deafness. The mode inheritance agrees one. This result shows that patients...
The glycolytic enzyme glucokinase plays an important role in the regulation of insulin secretion and recent studies have shown that mutations human gene are a common cause autosomal dominant form non-insulin-dependent (type 2) diabetes mellitus (NIDDM) has onset often during childhood. majority been identified missense result synthesis molecule with altered amino acid sequence. To characterize effect these on catalytic properties beta-cell glucokinase, we expressed native mutant forms this...
The clinical expression of maturity-onset diabetes the young (MODY)-3 is highly variable. This may be due to environmental and/or genetic factors, including molecular characteristics hepatocyte nuclear factor 1-alpha (HNF1A) gene mutation.We analyzed mutations identified in 356 unrelated MODY3 patients, 118 novel mutations, and searched for correlations between genotype age at diagnosis diabetes.Missense prevailed dimerization DNA-binding domains (74%), while truncating were predominant...
To describe the long-term metabolic outcome of children with congenital hyperinsulinism after near-total or partial elective pancreatectomy.Patients (n = 105: 58 diffuse and 47 focal hyperinsulinism) received operations between 1984 2006. Follow-up consisted periodic measurements pre- postprandial plasma glucose over 24 h, OGTT, IVGTT. Cumulative incidence hypo- hyperglycemia/insulin treatment was estimated by Kaplan-Meier analysis.After pancreatectomy, 59% still presented mild asymptomatic...
Vasopressin plays a central role in water homeostasis but it has also been recognized to be associated with adverse effects several chronic diseases. Recently, copeptin increasingly used as surrogate for vasopressin, they are co-secreted, and is easier measure. However, the relationship between plasma concentrations of (P(cop)) vasopressin (P(vp)) only studied relatively small numbers selected people.This study sought evaluate P(vp) P(cop) community-based population people kidney disease...