(Q38568437)

4 September 2017

title

Genetic, environmental, and epigenetic factors involved in CAKUT. (English)

1 reference

4 September 2017

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26281895%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Rachel H Giles

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26281895%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

5

Nine V A M Knoers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26281895%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

3

Ernie M H F Bongers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26281895%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

author name string

Nayia Nicolaou

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26281895%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

language of work or name

English

0 references

publication date

18 August 2015

1 reference

Nature Reviews Nephrology

4 September 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26281895%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26281895%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26281895%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

720-731

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26281895%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/nrneph.2015.140

31 May 2020

exact match

0 references

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Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

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Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

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Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract

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Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans

21 January 2018

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Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

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21 January 2018

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21 January 2018

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Contribution of rare copy number variants to isolated human malformations

21 January 2018

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Alagille syndrome and deletion of 20p.

21 January 2018

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Delineation of two distinct 6p deletion syndromes.

21 January 2018

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Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

21 January 2018

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Genome structural variation discovery and genotyping

21 January 2018

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Detection of clinically relevant copy number variants with whole-exome sequencing.

21 January 2018

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Copy-number disorders are a common cause of congenital kidney malformations

21 January 2018

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21 January 2018

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Kif26b, a kinesin family gene, regulates adhesion of the embryonic kidney mesenchyme

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Deletions of chromosomal regulatory boundaries are associated with congenital disease

21 January 2018

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21 January 2018

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SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

21 January 2018

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21 January 2018

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Genome sequencing identifies major causes of severe intellectual disability

21 January 2018

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Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

21 January 2018

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Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease.

21 January 2018

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Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

21 January 2018

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Human diseases caused by germline and somatic abnormalities in microRNA and microRNA-related genes

21 January 2018

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Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562.

21 January 2018

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Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.

21 January 2018

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MicroRNAs regulate renal tubule maturation through modulation of Pkd1.

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

Conditional loss of kidney microRNAs results in congenital anomalies of the kidney and urinary tract (CAKUT).

21 January 2018

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Podocyte-specific loss of functional microRNAs leads to rapid glomerular and tubular injury

21 January 2018

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MicroRNA-17 post-transcriptionally regulates polycystic kidney disease-2 gene and promotes cell proliferation

21 January 2018

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miR-17~92 miRNA cluster promotes kidney cyst growth in polycystic kidney disease

21 January 2018

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Refining transcriptional programs in kidney development by integration of deep RNA-sequencing and array-based spatial profiling

21 January 2018

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RNA-Seq: a revolutionary tool for transcriptomics

21 January 2018

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Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux

21 January 2018

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Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.

21 January 2018

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Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tract

21 January 2018

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Association of angiotensin type 2 receptor gene polymorphisms with ureteropelvic junction obstruction in Brazilian patients

21 January 2018

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A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development.

21 January 2018

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Common variants in DGKK are strongly associated with risk of hypospadias

21 January 2018

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Association of trypanolytic ApoL1 variants with kidney disease in African Americans

21 January 2018

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Multiple loci associated with indices of renal function and chronic kidney disease

21 January 2018

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New loci associated with kidney function and chronic kidney disease

21 January 2018

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Fetal environment, epigenetics, and pediatric renal disease

21 January 2018

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Congenital renal agenesis: case-control analysis of birth characteristics

21 January 2018

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Prenatal risk factors for childhood CKD

21 January 2018

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Maternal diabetes mellitus and congenital anomalies of the kidney and urinary tract (CAKUT) in the child

21 January 2018

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Effects of dietary protein restriction on nephron number in the mouse

21 January 2018

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Renal developmental defects resulting from in utero hypoxia are associated with suppression of ureteric β-catenin signaling.

21 January 2018

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Prenatal exposure to maternal depression, neonatal methylation of human glucocorticoid receptor gene (NR3C1) and infant cortisol stress responses

21 January 2018

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The effect of genotype and in utero environment on interindividual variation in neonate DNA methylomes

21 January 2018

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Epigenetic histone methylation modulates fibrotic gene expression

21 January 2018

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Cytosine methylation changes in enhancer regions of core pro-fibrotic genes characterize kidney fibrosis development

21 January 2018

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The BRCT-domain containing protein PTIP links PAX2 to a histone H3, lysine 4 methyltransferase complex

21 January 2018

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Altering a histone H3K4 methylation pathway in glomerular podocytes promotes a chronic disease phenotype

21 January 2018

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Epigenetics of discordant monozygotic twins: implications for disease

21 January 2018

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Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

21 January 2018

1 reference

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Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome

21 January 2018

1 reference

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FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome

21 January 2018

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Mutations in GRIP1 cause Fraser syndrome

21 January 2018

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Mutations in HPSE2 cause urofacial syndrome

21 January 2018

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LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

21 January 2018

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Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia

21 January 2018

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Functional analysis of BMP4 mutations identified in pediatric CAKUT patients

21 January 2018

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Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

21 January 2018

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Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.

21 January 2018

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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

21 January 2018

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Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

21 January 2018

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Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

21 January 2018

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Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases

21 January 2018

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HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment

21 January 2018

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JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome

21 January 2018

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NOTCH2 mutations in Alagille syndrome

21 January 2018

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The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney

21 January 2018

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Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

ROBO2 gene variants are associated with familial vesicoureteral reflux

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

Increased levels of pigment epithelium-derived factor in aqueous humor of patients with uveitis

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain

21 January 2018

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Dominantly inherited renal adysplasia

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

21 January 2018

Vesicoureteral Reflux

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

MMP-1 and -3 haplotype is associated with congenital anomalies of the kidney and urinary tract

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998)

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

Associated nonurinary congenital anomalies among infants with congenital anomalies of kidney and urinary tract (CAKUT)

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

Hereditary renal adysplasia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

Autosomal dominant inheritance of small kidneys

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

ClinGen--the Clinical Genome Resource

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

Increased exonic de novo mutation rate in individuals with schizophrenia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

Unilateral renal aplasia in X-linked Kallmann's syndrome

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

Adverse effects of hyperglycemia on kidney development in rats: in vivo and in vitro studies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

Epigenetics and the environment: emerging patterns and implications

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

Genomic and epigenomic analyses of monozygotic twins discordant for congenital renal agenesis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEPH.2015.140

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)

31 March 2020

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De Novo Uroplakin IIIa Heterozygous Mutations Cause Human Renal Adysplasia Leading to Severe Kidney Failure

31 March 2020

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How they begin and how they end: classic and new theories for the development and deterioration of congenital anomalies of the kidney and urinary tract, CAKUT.

31 March 2020

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12 December 2020

A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease.

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12 December 2020

Hereditary renal adysplasia in a three generations family

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12 December 2020

Clinical Features and Histology of Apolipoprotein L1-Associated Nephropathy in the FSGS Clinical Trial

1 reference

12 December 2020

Requirement for Pbx1 in skeletal patterning and programming chondrocyte proliferation and differentiation

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRNEPH.2015.140

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26281895%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

31 May 2020

1052402955

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26281895%20AND%20SRC:MED&resulttype=core&format=json