A5070047711- Renal and related cancers
- Cell Adhesion Molecules Research
- Renal Diseases and Glomerulopathies
- Pediatric Urology and Nephrology Studies
- Genetic and Kidney Cyst Diseases
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Platelet Disorders and Treatments
- Urological Disorders and Treatments
- Connective tissue disorders research
- Renal cell carcinoma treatment
- Gastrointestinal Tumor Research and Treatment
- Genomics and Rare Diseases
- Sarcoma Diagnosis and Treatment
- Pancreatic function and diabetes
- Genetic Syndromes and Imprinting
- Biomedical Research and Pathophysiology
- Prenatal Screening and Diagnostics
- Kidney Stones and Urolithiasis Treatments
- Chronic Kidney Disease and Diabetes
- Fetal and Pediatric Neurological Disorders
- Blood Coagulation and Thrombosis Mechanisms
- Neonatal Respiratory Health Research
- Ion Transport and Channel Regulation
- Autoimmune Bullous Skin Diseases
- Neonatal Health and Biochemistry
Université Paris Cité
2016-2025
Hôpital Necker-Enfants Malades
2016-2025
Assistance Publique – Hôpitaux de Paris
2016-2025
Inserm
2007-2025
Institut des Maladies Génétiques Imagine
2018-2025
Sorbonne Paris Cité
2016-2023
Centre de Recherche des Cordeliers
2023
Centre National de la Recherche Scientifique
1997-2023
Sorbonne Université
2023
Délégation Paris 5
1998-2019
Background and objectives: Hepatocyte nuclear factor 1β (HNF1β) is a transcription that critical for the development of kidney pancreas. In humans, mutations in <i>HNF1B</i> lead to congenital anomalies urinary tract, pancreas atrophy, maturity-onset diabetes young type 5 genital malformations. Design, setting, participants, & measurements: We report screening cohort 377 unrelated cases with various phenotypes (hyperechogenic kidneys size not more than +3 SD, multicystic disease, renal...
Abstract The overall diagnostic yield of massively parallel sequencing–based tests in patients with chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% adult cases. These figures should encourage nephrologists to frequently use genetic testing as a means their patients. However, reality, several barriers appear hinder the implementation diagnostics routine clinical practice. In this article we aim support nephrologist overcome these barriers. After detailed discussion general...
Podocytes are specialized epithelial cells covering the basement membrane of glomerulus in kidney. The molecular mechanisms underlying role podocytes glomerular filtration still largely unknown. We generated podocin-deficient (Nphs2−/−) mice to investigate function podocin, a protein expressed at insertion slit diaphragm and defective subset patients with steroid-resistant nephrotic syndrome focal segmental glomerulosclerosis. Nphs2−/− developed proteinuria during antenatal period died few...
Mutations in the MYH9 gene, which encodes nonmuscle myosin heavy chain IIA, have been recently reported three syndromes that share association of macrothrombocytopenia (MTCP) and leukocyte inclusions: May-Hegglin anomaly Sebastian Fechtner syndromes. Epstein syndrome, associates inherited sensorineural deafness, glomerular nephritis, MTCP without inclusions, was shown to be genetically linked same locus at 22q12.3 13. The expression fetal mature human kidney studied, 40 coding exons gene...
Alport syndrome is an inherited nephropathy associated with mutations in genes encoding type IV collagen chains present the glomerular basement membrane. COL4A5 are major X-linked form of disease, and COL4A3 COL4A4 autosomal recessive dominant forms (thought to be involved 15% 1%–5% families, respectively) benign familial hematuria. Mutation screening these three large time-consuming expensive. Here, we carried out a combination multiplex PCR, amplicon quantification, next generation...
<h3>Background</h3> Alport syndrome is a clinically heterogeneous, progressive nephropathy caused by mutations in collagen IV genes, namely <i>COL4A3</i> and <i>COL4A4</i> on chromosome 2 <i>COL4A5</i> X. The wide phenotypic variability the presence of incomplete penetrance suggest that simple Mendelian model cannot completely explain genetic control this disease. Therefore, we explored possibility under digenic control. <h3>Methods</h3> Using massively parallel sequencing, identified 11...
We present clinical practice recommendations for the treatment of children with Alport syndrome who are not enrolled in trials. Our goal is to promote early initiation a standard therapeutic approach that will facilitate assessment safety and efficacy protocol. The protocol based on reduction proteinuria, intraglomerular pressure, renal fibrosis via interference renin-angiotensin-aldosterone system.
The DiGeorge syndrome, the most common of microdeletion syndromes, affects multiple organs, including heart, nervous system, and kidney. It is caused by deletions on chromosome 22q11.2; genetic driver kidney defects unknown.
Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal-dominant disorder characterized by ocular and renal malformations. Mutations in the paired-box gene, PAX2, have been identified approximately half of individuals with classic findings hypoplasia/dysplasia abnormalities optic nerve. Prior to 2011, there was no actively maintained locus-specific database (LSDB) cataloguing extent genetic variation PAX2 gene phenotypic syndrome. Review published cases collective...
UMOD mutations cause familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD), although these phenotypes are nonspecific.We reviewed cases of diagnosed in the genetic laboratories Necker Hospital (Paris, France) Université Catholique de Louvain (Brussels, Belgium). We also analyzed patients with MCKD/FJHN but no mutation. To determine thresholds for hyperuricemia uric-acid excretion fraction (UAEF) according to GFR, parameters were 1097 various renal...
Nephron morphogenesis is a complex process that generates blood-filtration units (glomeruli) connected to extremely long and patterned tubular structures. Hepatocyte nuclear factor 1β (HNF1β) divergent homeobox transcription expressed in kidney from the first steps of nephrogenesis. Mutations HNF1B (OMIM #137920) are frequently found patients with developmental renal pathologies, mechanisms which have not been completely elucidated. Here we show inactivation Hnf1b murine metanephric...
Abstract In chronic kidney disease (CKD), proteinuria results in severe tubulointerstitial lesions, which ultimately lead to end-stage renal disease. Here we identify 4-phenylbutyric acid (PBA), a chemical chaperone already used humans, as novel therapeutic strategy capable counteract the toxic effect of proteinuria. Mechanistically, show that albumin induces tubular unfolded protein response via cytosolic calcium rise, leads apoptosis by Lipocalin 2 (LCN2) modulation through ATF4....
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in three to six 1000 live births, represent about 20% prenatally detected anomalies, constitute main cause CKD children. These disorders are phenotypically genetically heterogeneous. Monogenic causes CAKUT humans mice have been identified. However, despite high-throughput sequencing studies, disease remains unknown most patients, several studies support more complex inheritance role environmental factors and/or epigenetics...
Abstract. Mutations in either the COL4A3 or COL4A4 genes, encoding α3 and α4 chains of type IV collagen, are responsible for autosomal-recessive form Alport syndrome, a progressive hematuric nephropathy characterized by glomerular basement membrane abnormalities. Reported here complete exon-intron structure comprehensive screen mutations 52 exons 41 unrelated patients diagnosed as having autosomal syndrome. This resulted identification 21 that expected to be causative. Furthermore, it is...
Juvenile nephronophthisis (NPH) is a genetically heterogeneous disorder representing the most frequent inherited cause of chronic renal failure in children. We recently assigned gene (NPH1) to 2q13 region which responsible for approximately 85% cases. Cloning this yeast artificial chromosome contig revealed presence low copy repeats. Large-scale rearrangements were detected 80% patients belonging inbred or multiplex NPH1 families and 65% sporadic Surprisingly, these seem be, cases, large...