A5020111766- Renal Diseases and Glomerulopathies
- Renal and related cancers
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Genomics and Rare Diseases
- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
- Autoimmune Bullous Skin Diseases
- Celiac Disease Research and Management
- Biomedical Research and Pathophysiology
- Prenatal Screening and Diagnostics
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Genomic variations and chromosomal abnormalities
- Caveolin-1 and cellular processes
- Chronic Lymphocytic Leukemia Research
- Systemic Lupus Erythematosus Research
- Vasculitis and related conditions
- Chronic Kidney Disease and Diabetes
- Genetics and Neurodevelopmental Disorders
- Pediatric Urology and Nephrology Studies
- Cell Adhesion Molecules Research
- RNA Research and Splicing
- Liver Diseases and Immunity
- Pancreatic and Hepatic Oncology Research
- Kidney Stones and Urolithiasis Treatments
- Pregnancy and Medication Impact
Hôpital Necker-Enfants Malades
2017-2025
Assistance Publique – Hôpitaux de Paris
2017-2025
Université Paris Cité
2017-2025
Inserm
2017-2025
Institut des Maladies Génétiques Imagine
2017-2025
Hôpital Robert-Debré
2025
Délégation Paris 5
2017-2025
Sorbonne Paris Cité
2017-2023
Institut d’Hématologie et d’Oncologie Pédiatrique
2017
Université de Sherbrooke
1997
Significance Statement Children with frequently relapsing, steroid-dependent nephrotic syndrome (FRSDNS) often require multiple courses of rituximab. However, long-term effects from repeated treatments remain unknown. In this international, multicenter study 346 children receiving 1149 rituximab, the risk relapse decreased and relapse-free survival significantly improved treatments. Important side effects, including hypogammaglobulinemia, neutropenia, infections, were mostly mild, but...
Background and objectives Intensified immunosuppression in steroid-resistant nephrotic syndrome is broadly applied, with disparate outcomes. This review of patients from the United Kingdom National Study Nephrotic Syndrome cohort aimed to improve disease stratification by determining, comprehensively genetically screened syndrome, if there an association between response initial intensified progression and/or post-transplant recurrence. Design, setting, participants, & measurements...
RNA modifications play a fundamental role in cellular function. Pseudouridylation, the most abundant modification, is catalyzed by H/ACA small ribonucleoprotein (snoRNP) complex that shares four core proteins, dyskerin (DKC1), NOP10, NHP2, and GAR1. Mutations DKC1 , NOP10 or NHP2 cause dyskeratosis congenita (DC), disorder characterized telomere attrition. Here, we report phenotype comprising nephrotic syndrome, cataracts, sensorineural deafness, enterocolitis, early lethality two pedigrees:...
X-linked Alport syndrome (XLAS) is an inherited kidney disease caused exclusively by pathogenic variants in the COL4A5 gene. In 10-20% of cases, DNA sequencing exons or flanking regions cannot identify molecular causes. Here, our objective was to use a transcriptomic approach causative events group 19 patients with XLAS without identified mutation gene panel sequencing. Bulk RNAseq and/or targeted using capture genes performed. Alternative splicing were compared those 15 controls developed...
The human genome comprises approximately 3% of tandem repeats with variable length (VNTR), a few which have been linked to rare diseases. Autosomal dominant tubulointerstitial kidney disease-MUC1 (ADTKD-MUC1) is caused by specific frameshift variants in the coding VNTR MUC1 gene. Calling from using short-read sequencing (SRS) challenging due poor read mappability. We developed computational pipeline, VNtyper, for reliable detection pathogenic and demonstrated its clinical utility two...
We report the screening of a large panel genes in series 100 fetuses (98 families) affected with severe renal defects. Causative variants were identified 22% cases, greatly improving genetic counseling. The percentage explaining phenotype was different according to type phenotype. highest diagnostic yield found cases ciliopathy-like (11/15 families and, addition, single heterozygous or homozygous Class 3 variant PKHD1 three unrelated autosomal recessive polycystic kidney disease). lowest...
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Denys-Drash syndrome (DDS) is a rare disease typically associated with triad of early onset nephrotic syndromes (NS), susceptibility to Wilms tumor (WT), and genitourinary structural defects. DDS caused by Wilms' suppression gene (WT1) variants, the most frequent variants in exons 8 9. This study aimed evaluate long-term clinical outcomes genotype-to-phenotype correlations large, multicenter cohort children typical DDS. We conducted national retrospective all diagnosed pathogenic variant WT1...
Genetic testing is increasingly used to diagnose kidney diseases, proving cost-effective when performed on selected patients. We present the case of 2 brothers with proteinuria from a young age; one developed insufficiency while other maintained normal function into late life. This report investigates whether they inherited same disease. The proband exhibited focal segmental glomerulosclerosis, declining over time. analysis revealed heterozygous variants in MYH9 and WT1. variant was deemed...
IntroductionUnlike idiopathic nephrotic syndrome (NS), hereditary podocytopathies are not expected to recur after kidney transplantation. However, some reports of post-transplant recurrence NS in patients carrying variants the NPHS2 gene have been described, notably with p.Arg138Gln variant, which is more prevalent Europe. The objective this study was assess risk transplantation a large cohort biallelic pathogenic variants.MethodsSince January 2010, 61 identified at Necker-Enfants Malades...
Steroid-resistant nephrotic syndrome (SRNS) is caused by a defective expression of podocyte-specific proteins resulting from genetic defects in ∼30% cases [1]. Identification such cause children utmost importance for counselling, to avoid ineffective and potentially harmful therapies [2] start early suitable treatment rare instances as ubiquinone Coenzyme Q10 (COQ10) deficiency hopefully the near future—to offer-specific variant-based therapies, predict recurrence risk after transplantation...
We have carefully and interestingly read the manuscript by Bensouna et al., recently published in JASN, which authors used our tool, VNtyper (github.com/hassansaei/Vntyper), to detect pathogenic variants MUC1 gene.1 are pleased see that enabled a genetic diagnosis patients with CKD, roughly similar diagnostic yields their cohort as ours, whether was on exome or targeted panel, respectively. believe initial article may been misinterpreted present study, leading statements conclusions about it...
Whole-genome sequencing (WGS) now allows identification of multiple variants in non-coding regions. The large number identified by WGS however complicates their interpretation. Through the first deep intronic variant NPHS2, which encodes podocin, a protein implicated autosomal recessive steroid resistant nephrotic syndrome (SRNS), we compare herein three different tools including newly developed targeted NGS-based RNA-sequencing to explore splicing effect variations. two NPHS2 eventually...