Marie-Claire Gübler

Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism

Luisa Marsili, Matthieu Mantecon, Christelle Arrondel, Giulia Barcia et autres

nl, fr, gb (code pays fourni par la source)

Development of an automated estimation of foot process width using deep learning in kidney biopsies from patients with Fabry, minimal change, and diabetic kidney diseases

David Smerkous, Michael Mauer, Camilla Tøndel, Einar Svarstad et autres

us, no, fr, pt (code pays fourni par la source)

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

Friederike Petzold, Katy Billot, Xiaoyi Chen, C. Henry et autres

Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most frequent causes of kidney failure in childhood characterized by a broad clinical and genetic heterogeneity. Applied to one of the worldwide largest cohorts of patients with NPH, genetic analysis encompassing targeted …

fr, de, hu, ch, us (code pays fourni par la source)

Automated estimation of foot process width using deep learning in kidney biopsies from patients with Fabry disease

David Smerkous, Michael Mauer, Camilla Tøndel, Einar Svarstad et autres

us, no, fr, pt (code pays fourni par la source)

The renal inflammatory network of nephronophthisis

Marceau Quatredeniers, Frank Bienaimé, Giulia Ferri, Pierre Isnard et autres

Renal ciliopathies are the leading cause of inherited kidney failure. In autosomal dominant polycystic kidney disease (ADPKD), mutations in the ciliary gene PKD1 lead to the induction of CCL2, which promotes macrophage infiltration in the kidney. Whether or not mutations in genes …

fr, de (code pays fourni par la source)

Pathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment

Nicolas Vinit, B. Bessières, Emmanuel Spaggiari, Laurence Heidet et autres

OBJECTIVE: To identify favorable renal histology in fetuses with early severe lower urinary tract obstruction (LUTO) and determine the best timing and selection criteria for prenatal surgery. METHODS: This multicenter, retrospective study included male fetuses with severe LUTO which died before 24 …

fr (code pays fourni par la source)

Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes

Guillaume Dorval, Marc Jeanpierre, Vincent Morinière, Carole Tournant et autres

fr (code pays fourni par la source)

The renal inflammatory network of nephronophthisis

Marceau Quatredeniers, Frank Bienaimé, Giulia Ferri, Pierre Isnard et autres

STRUCTURED ABSTRACT BACKGROUND The majority of genetic kidney disease leading to kidney failure is caused by mutations in ciliary genes. How cilia malfunction leads to progressive kidney damage is poorly understood, but recent evidence links ciliopathy genes to CCL2 dependent macrophage recruitment …

fr, cz, ch, de, us (code pays fourni par la source)

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia

Pénélope Jordan, Christelle Arrondel, Bettina Bessières, Aude Tessier et autres

fr (code pays fourni par la source)

Developmental Renal Glomerular Defects at the Origin of Glomerulocystic Disease

Arianna Fiorentino, Armelle Christophorou, Filippo Massa, Serge Garbay et autres

The architecture of renal glomeruli is acquired through intricate and still poorly understood developmental steps. In our study we identify a crucial glomerular morphogenetic event in nephrogenesis that drives the remodeling/separation of the prospective vascular pole (the future entrance of the glomerular …

fr, dk (code pays fourni par la source)

Signaling pathways predisposing to chronic kidney disease progression

Mohamad Zaidan, Martine Burtin, Jitao David Zhang, Thomas Blanc et autres

The loss of functional nephrons after kidney injury triggers the compensatory growth of the remaining ones to allow functional adaptation. However, in some cases, these compensatory events activate signaling pathways that lead to pathological alterations and chronic kidney disease. Little is known …

fr, ch (code pays fourni par la source)

Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease

Marc Fila, Vincent Morinière, Philippe Eckart, Joëlle Terzic et autres

fr (code pays fourni par la source)