نتایج جستجو برای: cakut

تعداد نتایج: 175  

2014
Pawaree Saisawat Stefan Kohl Alina C. Hilger Daw-Yang Hwang Heon Yung Gee Gabriel C. Dworschak Velibor Tasic Tracie Pennimpede Sivakumar Natarajan Ethan Sperry Danilo S. Matassa Nataša Stajić Radovan Bogdanovic Ivo de Blaauw Carlo L.M. Marcelis Charlotte H.W. Wijers Enrika Bartels Eberhard Schmiedeke Dominik Schmidt Stefanie Mäzheuser Sabine Grasshoff-Derr Stefan Holland-Cunz Michael Ludwig Markus M. Nöhen Markus Draaken Erwin Brosens Hugo Heij Dick Tibboel Bernhard G. Herrmann Benjamin D. Solomon Annelies de Klein Iris A.L.M. van Rooij Franca Esposito Heiko M. Reutter Friedhelm Hildebrandt

Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease and they are the most frequent cause of end-stage renal disease in children in the US. However, its genetic etiology remains mostly elusive. VACTERL association is a rare disorder that involves congenital abnormalities in multiple organs including the kidney an...

Journal: :Nature Reviews Nephrology 2014

Journal: :Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2002
Fumiyo Kuwayama Yoichi Miyazaki Iekuni Ichikawa

Ectopia of the initial ureter is the first ontogenic mis-step that leads to many congenital anomalies of the kidney and urinary tract (CAKUT). The ectopia results in hypoplastic kidney, ectopia of the ureteral orifice, urinary outflow obstruction and/or reflux. Recent studies on several mutant mouse models verified that ectopic ureteral budding indeed occurs prior to the formation of CAKUT. Oft...

Journal: :CoRR 2017
Qiang Zheng Gregory Tasian Yong Fan

Classification of ultrasound (US) kidney images for diagnosis of congenital abnormalities of the kidney and urinary tract (CAKUT) in children is a challenging task. It is desirable to improve existing pattern classification models that are built upon conventional image features. In this study, we propose a transfer learning-based method to extract imaging features from US kidney images in order...

2017

Renal Malformation Panel offers diagnostics for a variety of severe congenital kidney disorders. As a result of the serious health problems caused by renal tubular dysgenesis, affected individuals usually die before birth, are stillborn, or die soon after birth from respiratory failure. In particular, proximal tubules are absent or underdeveloped. Rarely, with treatment, affected individuals su...

2010
Stefania Gimelli Gianluca Caridi Silvana Beri Kyle McCracken Renata Bocciardi Paola Zordan Monica Dagnino Patrizia Fiorio Luisa Murer Elisa Benetti Orsetta Zuffardi Roberto Giorda James M Wells Giorgio Gimelli Gian Marco Ghiggeri

Congenital anomalies of the kidney and the urinary tract (CAKUT) represent a major source of morbidity and mortality in children. Several factors (PAX, SOX,WNT, RET, GDFN, and others) play critical roles during the differentiation process that leads to the formation of nephron epithelia. We have identified mutations in SOX17, an HMG-box transcription factor and Wnt signaling antagonist, in eigh...

Journal: :Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2015
Anke Raaijmakers Anniek Corveleyn Koen Devriendt Theun Pieter van Tienoven Karel Allegaert Mieke Van Dyck Lambertus van den Heuvel Dirk Kuypers Kathleen Claes Djalila Mekahli Elena Levtchenko

BACKGROUND Congenital anomalies of kidneys and urinary tract (CAKUT) are the most predominant developmental disorders comprising ∼20-30% of all anomalies identified in the prenatal period. Mutations in hepatocyte nuclear factor 1-beta (HNF-1β) involved in the development of kidneys, liver, pancreas and urogenital tract are currently the most frequent monogenetic cause of CAKUT found in 10-30% o...

Journal: :Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2011
Stefanie Weber Christina Landwehr Miriam Renkert Alexander Hoischen Elke Wühl Jonas Denecke Bernhard Radlwimmer Dieter Haffner Franz Schaefer Ruthild G Weber

BACKGROUND Congenital anomalies of the kidneys and urinary tract (CAKUT) are frequently associated with malformations of other organs. METHODS In order to explore the role of DNA microimbalances in syndromal CAKUT, we applied genome-wide array-based comparative genomic hybridization (array-CGH) in 30 children with various CAKUT phenotypes and at least one additional extrarenal symptom. RESU...

2011
Sami K. Boualia Yaned Gaitan Inga Murawski Robert Nadon Indra R. Gupta Maxime Bouchard

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. This disease group includes a spectrum of urinary tract defects including vesicoureteral reflux, duplex kidneys and other developmental defects that can be found alone or in combination. To identify new regulators of CAKUT, we tested the genetic cooperativity between sev...

Journal: :Nephrology (Saint-Petersburg) 2017

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