CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT)
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چکیده
منابع مشابه
CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT).
BACKGROUND Recently, we identified a microduplication in chromosomal band 1q21.1 encompassing the CHD1L/ALC1 gene encoding a chromatin-remodelling enzyme in congenital anomalies of the kidneys and urinary tract (CAKUT) patient. METHODS To explore the role of CHD1L in CAKUT, we screened 85 CAKUT patients for mutations in the CHD1L gene and performed functional analyses of the three heterozygou...
متن کاملCongenital Anomalies of the Kidney and the Urinary Tract (CAKUT)
This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated ...
متن کاملCongenital Anomalies of the Kidney and Urinary Tract (CAKUT).
Congenital anomalies of the kidneys and urinary tract (CAKUT) are found in 3-6 out of 1.000 of the newborns, or according to some statistics they are represented in 0.5% of all pregnancies. Congenital abnormalities of the kidneys and urinary tract present a family of diseases of various anatomic spectrum, including renal anomalies, and anomalies of the bladder and urethra. The study was retrosp...
متن کاملThe Prenatal and Postnatal Incidence of Congenital Anomalies of the Kidneys and Urinary Tract (CAKUT) Detected by Ultrasound
Purpose: Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common anomalies identified in newborns. This study aims to demonstrate the prevalence of CAKUT including hydronephrosis diagnosed by antenatal and postnatal ultrasound over a five-year period. Methods: The records of births between May 1, 2009 and April 30, 2014 at our hospital were collected. The number of inf...
متن کاملMapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization.
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...
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ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 2011
ISSN: 0931-0509,1460-2385
DOI: 10.1093/ndt/gfr649