نتایج جستجو برای: cakut
تعداد نتایج: 175 فیلتر نتایج به سال:
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...
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...
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...
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...
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...
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...
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...
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...
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