COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans
Sign Up to like & getrecommendations! Published in 2019 at "Human Genetics"
DOI: 10.1007/s00439-019-02042-4
Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease (~ 45%) that manifests before 30 years of age. The genetic locus containing COL4A1 (13q33–34) has been implicated in… read more here.
Keywords: potential novel; cause; col4a1 mutations; cakut ... See more keywords
Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric Nephrology"
DOI: 10.1007/s00467-019-04230-w
Abstract: BackgroundThe association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations has yet to be fully explored.MethodsIn this retrospective cohort study, we examined patients with CAKUT who… read more here.
Keywords: urinary tract; gene mutations; cakut; analysis ... See more keywords
Long-term follow-up of congenital anomalies of the kidney and urinary tract diagnosed in utero: a longitudinal study
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Nephrology"
DOI: 10.1007/s40620-021-01142-7
Abstract: Congenital-anomalies of the kidney-and-urinary-tract (CAKUT) are diagnosed in 3–6 per 1000 live-births. The objective of the current study was to examine the short and long-term outcomes of children diagnosed prenatally with CAKUT. A retrospective study… read more here.
Keywords: congenital anomalies; term; cakut; long term ... See more keywords
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)
Sign Up to like & getrecommendations! Published in 2020 at "Genetics in Medicine"
DOI: 10.1038/s41436-020-0844-z
Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in childhood and adolescence. We aim to identify novel monogenic causes of CAKUT. Exome sequencing was performed… read more here.
Keywords: congenital anomalies; urinary tract; pathogenic variants; cakut ... See more keywords
Severe Fetal CAKUT (Congenital Anomalies of the Kidneys and Urinary Tract), Prenatal Consultations, and Initiation of Neonatal Dialysis.
Sign Up to like & getrecommendations! Published in 2022 at "American journal of perinatology"
DOI: 10.1055/a-1850-4429
Abstract: BACKGROUND Pediatric nephrology prenatal consultations for congenital anomalies of the kidney and urinary tract (CAKUT) and criteria for kidney replacement therapy initiation in neonatal end-stage kidney disease (ESKD) are not well described. We evaluated pediatric… read more here.
Keywords: prenatal consultations; nephrology; dialysis; cakut ... See more keywords
Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract
Sign Up to like & getrecommendations! Published in 2017 at "Nephrology Dialysis Transplantation"
DOI: 10.1093/ndt/gfx031
Abstract: Background In the absence of cytogenetic abnormality, fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) with/without other structural anomalies show a higher likelihood of monogenic causes; however, defining the underlying pathology can… read more here.
Keywords: congenital anomalies; urinary tract; cakut; kidney urinary ... See more keywords
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux
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DOI: 10.1371/journal.pone.0191224
Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause (40–50%) of chronic kidney disease (CKD) in children. About 40 monogenic causes of CAKUT have so far been discovered. To date… read more here.
Keywords: cakut; interactor; homozygous missense; vwa2 ... See more keywords
The Evaluation of Genetic Diagnosis on High-Risk Fetal CAKUT
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.869525
Abstract: Background: It is challenging to make an accurate prenatal diagnosis for congenital anomalies of the kidney and urinary tract (CAKUT) because of its pathologic diversity. This study aims to evaluate the performance of whole-exome sequencing… read more here.
Keywords: diagnosis; high risk; risk fetal; cakut ... See more keywords
Aberrations in FGFR1, FGFR2, and RIP5 Expression in Human Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
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DOI: 10.3390/ijms232415537
Abstract: This study aimed to explore the spatio-temporal expression patterns of congenital anomalies of kidney and urinary tract (CAKUT) candidate genes, Fibroblast Growth Factor Receptor 1 (FGFR1), Fibroblast Growth Factor Receptor 2 (FGFR2) and Receptor-Interacting Protein… read more here.
Keywords: kidney urinary; expression; cakut; congenital anomalies ... See more keywords