Search Results - "DAHAN, Karin"

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report by Eckardt, Kai-Uwe, Alper, Seth L, Antignac, Corinne, Bleyer, Anthony J, Chauveau, Dominique, Dahan, Karin, Deltas, Constantinos, Hosking, Andrew, Kmoch, Stanislav, Rampoldi, Luca, Wiesener, Michael, Wolf, Matthias T, Devuyst, Olivier

“…Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B),…”
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Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1 by Olinger, Eric, Hofmann, Patrick, Kidd, Kendrah, Dufour, Inès, Belge, Hendrica, Schaeffer, Céline, Kipp, Anne, Bonny, Olivier, Deltas, Constantinos, Demoulin, Nathalie, Fehr, Thomas, Fuster, Daniel G, Gale, Daniel P, Goffin, Eric, Hodaňová, Kateřina, Huynh-Do, Uyen, Kistler, Andreas, Morelle, Johann, Papagregoriou, Gregory, Pirson, Yves, Sandford, Richard, Sayer, John A, Torra, Roser, Venzin, Christina, Venzin, Reto, Vogt, Bruno, Živná, Martina, Greka, Anna, Dahan, Karin, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Sr, Anthony J, Devuyst, Olivier

“…Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized cause of end-stage kidney disease, primarily due to mutations in…”
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Improving mutation screening in familial hematuric nephropathies through next generation sequencing by Morinière, Vincent, Dahan, Karin, Hilbert, Pascale, Lison, Marieline, Lebbah, Said, Topa, Alexandra, Bole-Feysot, Christine, Pruvost, Solenn, Nitschke, Patrick, Plaisier, Emmanuelle, Knebelmann, Bertrand, Macher, Marie-Alice, Noel, Laure-Hélène, Gubler, Marie-Claire, Antignac, Corinne, Heidet, Laurence

“…Alport syndrome is an inherited nephropathy associated with mutations in genes encoding type IV collagen chains present in the glomerular basement membrane…”
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Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome by Belge, Hendrica, Dahan, Karin, Cambier, Jean-François, Benoit, Valérie, Morelle, Johann, Bloch, Julie, Vanhille, Philippe, Pirson, Yves, Demoulin, Nathalie

“…Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder, secondary to mutations in the GATA-3 gene. Due to its…”
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Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations by Bollée, Guillaume, Dahan, Karin, Flamant, Martin, Morinière, Vincent, Pawtowski, Audrey, Heidet, Laurence, Lacombe, Didier, Devuyst, Olivier, Pirson, Yves, Antignac, Corinne, Knebelmann, Bertrand

“…UMOD mutations cause familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD), although these phenotypes are nonspecific…”
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A classification of ductal plate malformations based on distinct pathogenic mechanisms of biliary dysmorphogenesis by Raynaud, Peggy, Tate, Joshua, Callens, Céline, Cordi, Sabine, Vandersmissen, Patrick, Carpentier, Rodolphe, Sempoux, Christine, Devuyst, Olivier, Pierreux, Christophe E., Courtoy, Pierre, Dahan, Karin, Delbecque, Katty, Lepreux, Sébastien, Pontoglio, Marco, Guay‐Woodford, Lisa M., Lemaigre, Frédéric P.

“…Ductal plate malformations (DPMs) are developmental anomalies considered to result from lack of ductal plate remodeling during bile duct morphogenesis. In…”
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Mutation in the SLC2A9 Gene: A New Family with Familial Renal Hypouricemia Type 2 by Maalouli, Christian, Dahan, Karin, Devresse, Arnaud, Gillion, Valentine

“…Familial renal hypouricemia is a rare genetic disorder characterized by a defect in renal tubular urate reabsorption. Some patients present with…”
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The Struggling Odyssey of Infantile Primary Hyperoxaluria by Guillaume, Adrien, Chiodini, Benedetta, Adams, Brigitte, Dahan, Karin, Deschênes, Georges, Ismaili, Khalid

“…Oxalate overproduction in Primary Hyperoxaluria type I (PH1) leads to progressive renal failure and systemic oxalate deposition. In severe infantile forms of…”
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NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome by Boute, Nicolas, Antignac, Corinne, Gribouval, Olivier, Lee, Hyunjoo, Niaudet, Patrick, Roselli, Séverine, Dahan, Karin, Fuchshuber, Arno, Gubler, Marie-Claire, Benessy, France

“…Familial idiopathic nephrotic syndromes represent a heterogeneous group of kidney disorders, and include autosomal recessive steroid-resistant nephrotic…”
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Association of PKD2 (Polycystin 2) Mutations With Left-Right Laterality Defects by Bataille, Stanislas, MD, Demoulin, Nathalie, MD, Devuyst, Olivier, MD, PhD, Audrézet, Marie-Pierre, PhD, Dahan, Karin, MD, PhD, Godin, Michel, MD, PhD, Fontès, Michel, PhD, Pirson, Yves, MD, Burtey, Stéphane, MD, PhD

“…Mutations in the PKD1 (polycystin 1) and PKD2 (polycystin 2) genes cause autosomal dominant polycystic kidney disease (ADPKD). Most Pkd2 -null mouse embryos…”
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Genotype and Outcome After Kidney Transplantation in Alport Syndrome by Gillion, Valentine, Dahan, Karin, Cosyns, Jean-Pierre, Hilbert, Pascale, Jadoul, Michel, Goffin, Eric, Godefroid, Nathalie, De Meyer, Martine, Mourad, Michel, Pirson, Yves, Kanaan, Nada

“…Alport syndrome (AS) is caused by mutations in α3/α4/α5 (IV) collagen genes, the severity of which determine the progression of AS. Posttransplantation outcome…”
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Distinctive patterns of p53 protein expression and microsatellite instability in human colorectal cancer by Nyiraneza, Christine, MSc, Jouret-Mourin, Anne, MD, PhD, Kartheuser, Alex, MD, PhD, Camby, Philippe, BSc, Plomteux, Olivier, MD, Detry, Roger, MD, PhD, Dahan, Karin, MD, PhD, Sempoux, Christine, MD, PhD

“…Summary Although evidence suggests an inverse relationship between microsatellite instability and p53 alterations in colorectal cancer, no study has thoroughly…”
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De Novo Atypical Haemolytic Uremic Syndrome after Kidney Transplantation by Dahan, Karin, Aydin, Selda, de Meyer, Martine, Devresse, Arnaud, Kanaan, Nada

“…De novo thrombotic microangiopathy (TMA) can occur after kidney transplantation. An abnormality of the alternative pathway of complement must be suspected and…”
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High risk for neoplastic transformation of endometriosis in a carrier of lynch syndrome by Nyiraneza, Christine, Marbaix, Etienne, Smets, Mireille, Galant, Christine, Sempoux, Christine, Dahan, Karin

“…Lynch syndrome is an autosomal dominant cancer-susceptibility disorder caused by mutations in DNA mismatch repair genes. Women with Lynch syndrome have an…”
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Hypermethylation of the 5' CpG island of the p14ARF flanking exon 1β in human colorectal cancer displaying a restricted pattern of p53 overexpression concomitant with increased MDM2 expression by Nyiraneza, Christine, Sempoux, Christine, Detry, Roger, Kartheuser, Alex, Dahan, Karin

“…It has been suggested that inactivation of p14ARF, a tumor suppressor central to regulating p53 protein stability through interaction with the MDM2…”
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Nephrolithiasis and Multicystic Kidneys in a Young Patient: A Quiz by Gillion, Valentine, Dahan, Karin, Dragean, Cristina Anca, Demoulin, Nathalie

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Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice by Knoers, Nine, Antignac, Corinne, Bergmann, Carsten, Dahan, Karin, Giglio, Sabrina, Heidet, Laurence, Lipska-Ziętkiewicz, Beata S, Noris, Marina, Remuzzi, Giuseppe, Vargas-Poussou, Rosa, Schaefer, Franz

“…Abstract The overall diagnostic yield of massively parallel sequencing–based tests in patients with chronic kidney disease (CKD) is 30% for paediatric cases…”
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A step-by-step, multidisciplinary strategy to maximize the yield of genetic testing in pediatric patients with chronic kidney diseases by Caliment, Ancuta, Van Reeth, Olil, Hougardy, Charlotte, Dahan, Karin, Niel, Olivier

“…Background The use of genetic testing in pediatric patients with chronic kidney diseases (CKD) has increased exponentially in the past few years, particularly…”
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Dipeptidyl peptidases and E3 ligases of N-degron pathways cooperate to regulate protein stability by Shimshon, Adi, Dahan, Karin, Israel-Gueta, Mor, Olmayev-Yaakobov, Diana, Timms, Richard T, Bekturova, Aizat, Makaros, Yaara, Elledge, Stephen J, Koren, Itay

“…N-degrons are short sequences located at protein N-terminus that mediate the interaction of E3 ligases (E3s) with substrates to promote their proteolysis. It…”
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Retraction Note: Hypermethylation of the 5' CpG island of the p14ARF flanking exon 1[beta] in human colorectal cancer displaying a restricted pattern of p53 overexpression concomitant with increased MDM2 expression by Nyiraneza, Christine, Sempoux, Christine, Detry, Roger, Kartheuser, Alex, Dahan, Karin

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