A5056349499- Renal Diseases and Glomerulopathies
- Renal and related cancers
- Ion Transport and Channel Regulation
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Renin-Angiotensin System Studies
- Genetic and Kidney Cyst Diseases
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Genomics and Rare Diseases
- Chronic Kidney Disease and Diabetes
- Biomedical Research and Pathophysiology
- Caveolin-1 and cellular processes
- Tuberous Sclerosis Complex Research
- Autoimmune Bullous Skin Diseases
- Pregnancy and preeclampsia studies
- Cell Adhesion Molecules Research
- Amino Acid Enzymes and Metabolism
- Hormonal Regulation and Hypertension
- Celiac Disease Research and Management
- Birth, Development, and Health
- RNA Research and Splicing
- Chronic Lymphocytic Leukemia Research
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- PI3K/AKT/mTOR signaling in cancer
- Connexins and lens biology
Inserm
2014-2025
Université Paris Cité
2014-2025
Institut des Maladies Génétiques Imagine
2013-2025
Délégation Paris 5
2010-2019
Sorbonne Paris Cité
2013-2018
Institut National de Recherche en Santé Publique
2017
Hôpital Necker-Enfants Malades
2002-2014
Institut Necker Enfants Malades
2008-2014
Assistance Publique – Hôpitaux de Paris
2013-2014
National Kidney Foundation
2014
COL4A3, COL4A4, and COL4A5 are the only collagen genes that have been implicated in inherited nephropathies humans. However, causative for a number of hereditary multicystic kidney diseases, myopathies with cramps, heritable intracranial aneurysms remain unknown.
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
Nephrotic syndrome (NS) is divided into steroid-sensitive (SSNS) and -resistant (SRNS) variants. SRNS causes end-stage kidney disease, which cannot be cured. While the disease mechanisms of NS are not well understood, genetic mapping studies suggest a multitude unknown single-gene causes. We combined homozygosity with whole-exome resequencing identified an ARHGDIA mutation that SRNS. demonstrated in complex RHO GTPases prominently expressed podocytes rat glomeruli. mutations (R120X G173V)...
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 over 40 monogenic genes can be detected approximately 30% individuals with SRNS whose symptoms manifest before 25 years age. However, many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequencing to identify recessive SRNS. In 7 families and facultative ichthyosis, adrenal insufficiency, immunodeficiency, neurological defects, identified 9 different...
The recent identification of mutations in the INF2 gene, which encodes a member formin family actin-regulating proteins, cases familial FSGS supports importance an intact actin cytoskeleton podocyte function. To determine better prevalence autosomal dominant FSGS, we screened 54 families (78 patients) and detected 17% them. All were missense variants localized to N-terminal diaphanous inhibitory domain protein, region that interacts with C-terminal autoregulatory domain, thereby competing...
Mutations in <i>NPHS1</i>, which encodes nephrin, are the main causes of congenital nephrotic syndrome (CNS) Finnish patients, whereas mutations <i>NPHS2</i>, podocin, typically responsible for childhood-onset steroid-resistant European populations. Genotype–phenotype correlations not well understood non-Finnish patients. We evaluated clinical presentation, kidney histology, and disease progression CNS cases by mutational screening 107 families (117 cases) sequencing entire coding regions...
Since the recent publication of data showing favorable outcomes for patients with HIV-1 and ESRD, kidney transplantation has become a therapeutic option in this population. However, reports have documented unexplained reduced allograft survival these patients. We hypothesized that unrecognized infection transplanted by can compromise long-term function. Using electron microscopy molecular biology, we examined protocol renal transplant biopsies from 19 recipients who did not detectable levels...
Several genes, mainly involved in podocyte cytoskeleton regulation, have been implicated familial forms of primary FSGS. We identified a homozygous missense mutation (p.P209L) the TTC21B gene seven families with Mutations this ciliary were previously reported to cause nephronophthisis, chronic tubulointerstitial nephropathy. Notably, tubular basement membrane thickening reminiscent that observed nephronophthisis was present patients FSGS and p.P209L mutation. demonstrated product IFT139, an...
Hereditary defects of coenzyme Q10 biosynthesis cause steroid-resistant nephrotic syndrome (SRNS) as part multiorgan involvement but may also contribute to isolated SRNS. Here, we report 26 patients from 12 families with recessive mutations in ADCK4. Mutation detection rate was 1.9% among 534 consecutively screened cases. Patients ADCK4 showed a largely renal-limited phenotype, three subjects exhibiting occasional seizures, one subject mild mental retardation, and retinitis pigmentosa....
Abstract N 6 -threonyl-carbamoylation of adenosine 37 ANN-type tRNAs (t A) is a universal modification essential for translational accuracy and efficiency. The t A pathway uses two sequentially acting enzymes, YRDC OSGEP, the latter being subunit multiprotein KEOPS complex. We recently identified mutations in genes encoding four out five subunits children with Galloway-Mowat syndrome (GAMOS), clinically heterogeneous autosomal recessive disease characterized by early-onset steroid-resistant...
BACKGROUND. Proteinuria is considered an unfavorable clinical condition that accelerates renal and cardiovascular disease. However, it not clear whether all forms of proteinuria are damaging. Mutations in CUBN cause Imerslund-Gräsbeck syndrome (IGS), which characterized by intestinal malabsorption vitamin B12 some cases proteinuria. encodes for cubilin, proximal tubular uptake receptor containing 27 CUB domains ligand binding.
Idiopathic nephrotic syndrome (INS) in childhood is characterized by massive proteinuria and minimal glomerular changes. Most patients with INS respond to steroid therapy. generally regarded as a sporadic disease favorable outcome. We investigated distinct subgroup of nephrosis—the familial form resistant (SRN). These always progress end-stage renal failure within few years show absence recurrence the after transplantation. The occurrence disorder siblings high incidence inbreeding these...
Classically, infants with mutations in NPHS1, which encodes nephrin, present nephrotic syndrome within the first 3 mo of life (congenital Finnish-type), and children NPHS2, podocin, later steroid-resistant syndrome. Recently, however, NPHS2 have been identified congenital Whether NPHS1 similarly account for some cases childhood is unknown. In this study, 160 patients who belonged to 142 unrelated families presented at least after birth were screened variants once had excluded. Compound...