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1                                              CAKUT are problems that often require surgical intervent
2                                              CAKUT causes approximately 40% of ESRD that manifests wi
3  We examine here rare coding variants in 248 CAKUT trios and 1742 singleton CAKUT cases and compare t
4                                 To date, >60 CAKUT-associated genes have been identified, most of whi
5 rozygous for a null allele of Nrip1 showed a CAKUT-spectrum phenotype.
6 que systems and in diseases such as HSCR and CAKUT.
7                         Two are confirmed as CAKUT genes: ARID3A and NR6A1.
8 lprit in several congenital diseases such as CAKUT (Congenital anomalies of kidney and urinary tract)
9 hat a significant association exists between CAKUT and a nucleotide transition within the lariat bran
10 he first three decades of life are caused by CAKUT.
11 cate that dominant NRIP1 mutations can cause CAKUT by interference with retinoic acid transcriptional
12 te bladder innervation may secondarily cause CAKUT.
13 fication of single-gene mutations that cause CAKUT permits the first insights into related disease me
14 umber variants have also been shown to cause CAKUT and can be detected in 4-11% of patients.
15 mately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%-20% of patients.
16        Abrogating signaling via Y1015 causes CAKUT that are markedly different than renal agenesis in
17 nd new insights into the molecular basis for CAKUT.
18 confirm ESRRG as a strong candidate gene for CAKUT.
19 rmone receptor ESRRG as a candidate gene for CAKUT.
20 athways that were identified as relevant for CAKUT in mice and humans.
21 erm infants should have higher suspicion for CAKUT and consider screening, particularly those with ex
22           A total of 8093 infants (2.0%) had CAKUT, with urinary tract dilation comprising the majori
23 ominant-negative TBX18 mutations cause human CAKUT by interference with TBX18 transcriptional repress
24 n overview of known genetic causes for human CAKUT and shed light on distinct renal morphogenetic pat
25 ures of mouse CAKUT impressively mimic human CAKUT.
26 teins in its interactome, as causes of human CAKUT, offering new routes for studying the pathogenesis
27 ell development in the pathogenesis of human CAKUT.
28   Although reduction in GDNF dosage improved CAKUT it did not affect delayed mesenchyme regression.
29      Thus, comprehensive genetic analysis in CAKUT should include ROBO1 as a new cause of recessively
30 , applying WES to the diagnostic approach in CAKUT provides opportunities for an accurate and early e
31 cription factor not previously implicated in CAKUT in humans: a frameshift in the Arabic and a missen
32 nes, including genes known to be involved in CAKUT and candidate genes, in a cohort of 204 unrelated
33  variants recently reported as pathogenic in CAKUT did not indicate causality.
34  variants recently reported as pathogenic in CAKUT.
35 al bud and metanephric blastema resulting in CAKUT.
36 l prediction of postnatal kidney survival in CAKUT pregnancies is far from accurate.
37  cause multiorgan syndromes that may include CAKUT as a feature (syndromic CAKUT) or cause renal dise
38 aser/MOTA/BNAR spectrum genes cause isolated CAKUT, whereas truncating mutations are found in the mul
39 ribed as causing autosomal dominant isolated CAKUT in humans.
40 es represent the molecular cause of isolated CAKUT in 2.5% of the 590 affected families in this study
41           However, >90% of cases of isolated CAKUT still remain without a molecular diagnosis.
42                        We show that isolated CAKUT may be caused partially by mutations in recessive
43 idate genes in 574 individuals with isolated CAKUT from 590 families.
44  may also be mutated in humans with isolated CAKUT.
45  pathogenic mutations and deletions in known CAKUT genes.
46     However, hundreds of different monogenic CAKUT genes probably exist.
47 s suggest that PBX1 is involved in monogenic CAKUT in humans and call into question the role of some
48 ies help in genetic diagnostics of monogenic CAKUT and in understanding of monogenic and multifactori
49                    Various features of mouse CAKUT impressively mimic human CAKUT.
50 ate how they (i) inform the discovery of new CAKUT-associated candidate genes, (ii) illuminate the ab
51  1.00) and displayed high specificity in non-CAKUT pregnancies (82 and 94% in 22 healthy fetuses and
52                       The discovery of novel CAKUT-causing genes is challenging owing to variable exp
53                       The discovery of novel CAKUT-causing genes remains challenging because of this
54           Consistent with these data, 18% of CAKUT patients with diagnostic variants have neurodevelo
55  rank among the most common abnormalities of CAKUT, but the molecular basis for this defect is poorly
56 ellent reviews covering the genetic bases of CAKUT exist, new approaches for automated analysis and m
57  kidney maldevelopment and genetic causes of CAKUT and facilitates future advanced data analyses and
58                          Monogenic causes of CAKUT in humans and mice have been identified.
59  have been identified as monogenic causes of CAKUT, contributing to 12-20% of the aetiology of the di
60 e discovery of dozens of monogenic causes of CAKUT, most pathogenic pathways remain elusive.
61 e growing knowledge of the genetic causes of CAKUT, the majority of cases remain etiologically unsolv
62                                 Detection of CAKUT can inform risk stratification and clinical decisi
63   Studies revealed that the establishment of CAKUT is preceded by delayed apoptosis of undifferentiat
64 and offers new insights into the etiology of CAKUT and possible involvement of Wnt5a/Ror2 mutations.
65 ym2-deficient mice recapitulated features of CAKUT with high penetrance.
66 a kindred with an autosomal-dominant form of CAKUT with predominant ureteropelvic junction obstructio
67 represents the most severe and fatal form of CAKUT.
68 a kindred with an autosomal dominant form of CAKUT.
69      This risk was found across all forms of CAKUT including isolated urinary tract dilation.
70                 Apart from isolated forms of CAKUT, more than 500 syndromes have been described that
71          However, despite a sharp incline of CAKUT reports in the literature within the past 2 decade
72     Evidence suggests that a large number of CAKUT are genetic in origin.
73 and/or epigenetics in the pathophysiology of CAKUT.
74 diseases that may manifest as phenocopies of CAKUT.
75 wever, the morphologic clinical phenotype of CAKUT frequently does not indicate specific genes to be
76                              The presence of CAKUT correlated with earlier gestational age and was as
77  epigenetic factors can increase the risk of CAKUT.
78                              The spectrum of CAKUT included high-grade VUR (n = 2), renal dysplasia (
79 ower urinary tract obstruction and secondary CAKUT.
80 riants in 248 CAKUT trios and 1742 singleton CAKUT cases and compare them to 22,258 controls.
81  in recessive mouse models with the specific CAKUT phenotype of unilateral renal agenesis may also be
82 uced Robo2 gene dosage also exhibit striking CAKUT-VUR phenotypes.
83 at may include CAKUT as a feature (syndromic CAKUT) or cause renal diseases that may manifest as phen
84 underlying molecular mechanisms of syndromic CAKUT in three unrelated multiplex families with presume
85      Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations
86 oach, we identified TBX6 as a driver for the CAKUT subphenotypes in the 16p11.2 microdeletion syndrom
87 evidence base for accurate management of the CAKUT disorder that is currently unavailable.
88 cription factor that has also been linked to CAKUT.
89 l anomalies of the kidney and urinary tract (CAKUT) account for approximately 40% of children with ES
90 l anomalies of the kidney and urinary tract (CAKUT) affect about 1 in 500 births and are a major caus
91 l anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure.
92 l anomalies of the kidney and urinary tract (CAKUT) are among the most frequent organ malformations.
93  anomalies of the kidneys and urinary tract (CAKUT) are developmental disorders that commonly cause p
94 l anomalies of the kidney and urinary tract (CAKUT) are one of the most common malformations identifi
95 lies of kidneys and the lower urinary tract (CAKUT) are poorly understood.
96  anomalies of the kidneys and urinary tract (CAKUT) are the leading cause of CKD in children, featuri
97 l anomalies of the kidney and urinary tract (CAKUT) are the leading cause of end stage kidney disease
98 l anomalies of the kidney and urinary tract (CAKUT) are the major cause of childhood chronic kidney d
99  anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disea
100 l anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disea
101 l anomalies of the kidney and urinary tract (CAKUT) are the most common cause of CKD in the first thr
102 l anomalies of the kidney and urinary tract (CAKUT) are the predominant cause for chronic kidney dise
103  anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformat
104 l anomalies of the kidney and urinary tract (CAKUT) comprise a large variety of malformations that ar
105 l anomalies of the kidney and urinary tract (CAKUT) constitute one of the most frequent birth defects
106 omalies of the kidney and the urinary tract (CAKUT) in human newborns.
107 l anomalies of the kidney and urinary tract (CAKUT) in preterm infants is unknown.
108 l anomalies of the kidney and urinary tract (CAKUT) include vesicoureteral reflux (VUR).
109 l anomalies of the kidney and urinary tract (CAKUT) occur in three to six of 1000 live births, repres
110 l anomalies of the kidney and urinary tract (CAKUT) represent the most common cause of chronic kidney
111 nital anomalies of kidneys or urinary tract (CAKUT) syndrome, produced only minor abnormalities in th
112 l anomalies of the kidney and urinary tract (CAKUT), including hypo/dysplastic kidneys, hydroureter,
113 nital anomalies of kidney and urinary tract (CAKUT), including vesico-ureteric reflux (VUR), are majo
114 l anomalies of the kidney and urinary tract (CAKUT).
115 nital anomalies of kidneys or urinary tract (CAKUT).
116 l anomalies of the kidney and urinary tract (CAKUT).
117 nital anomalies of kidney and urinary tract (CAKUT).
118 ter elucidate the mechanisms that underscore CAKUT.
119 O1 variants have not been reported in viable CAKUT to date.
120 ence for a locus on 13q33q34 associated with CAKUT.
121 some 13q was performed in four children with CAKUT using 31 microsatellite markers on peripheral bloo
122         A screen of additional families with CAKUT identified three families harboring two heterozygo
123 iant in ZMYM2 in two different families with CAKUT.
124 c workup of prenatally detected fetuses with CAKUT can provide a long-sought evidence base for accura
125 ic fluid spanning 140 evaluable fetuses with CAKUT.
126 ome sequencing (WES) in 551 individuals with CAKUT and identified a heterozygous de novo stop-gain va
127 quencing (WES), we analyzed individuals with CAKUT from 33 different consanguineous families.
128 g broad range phenotypes in individuals with CAKUT.
129 r genetic disorders, as preterm infants with CAKUT appear to be at significantly higher risk of death
130  the holdout validation set of patients with CAKUT with definite endpoint data.
131 plinary clinical management of patients with CAKUT, potentially including personalized therapeutic ap
132              However, for most patients with CAKUT, the causative mutation remains unknown.
133 , in a cohort of 204 unrelated patients with CAKUT; 45% of the patients were severe fetal cases.
134 llular missense variants that segregate with CAKUT and VUR in two unrelated families.

 
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