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Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans
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PubMed
title
Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans
(English)
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stated in
PubMed
main subject
congenital disorder
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author
Friedhelm Hildebrandt
series ordinal
5
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Asaf Vivante
series ordinal
1
object named as
Asaf Vivante
1 reference
stated in
Crossref
author name string
Stefan Kohl
series ordinal
2
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stated in
Crossref
Daw-Yang Hwang
series ordinal
3
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stated in
Crossref
Gabriel C. Dworschak
series ordinal
4
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Crossref
language of work or name
English
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stated in
PubMed
publication date
April 2014
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stated in
PubMed
published in
Pediatric Nephrology
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stated in
PubMed
volume
29
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stated in
PubMed
issue
4
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stated in
PubMed
page(s)
695-704
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PubMed
cites work
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Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome
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Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux
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Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis
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Six2 and Wnt regulate self-renewal and commitment of nephron progenitors through shared gene regulatory networks
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21 March 2017
Six2 is required for suppression of nephrogenesis and progenitor renewal in the developing kidney
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Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice
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Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret
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TNXB mutations can cause vesicoureteral reflux
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28 September 2017
Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling
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28 September 2017
Copy-number disorders are a common cause of congenital kidney malformations
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PubMed Central
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28 September 2017
Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations
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28 September 2017
FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.
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28 September 2017
Congenital anomalies of the kidney and urinary tract: a genetic disorder?
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PubMed Central
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28 September 2017
Novel genetic aspects of congenital anomalies of kidney and urinary tract
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PubMed Central
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28 September 2017
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
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28 September 2017
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4676405
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28 September 2017
Genetics of vesicoureteral reflux.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4676405
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28 September 2017
Morphogenesis and molecular mechanisms involved in human kidney development.
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28 September 2017
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4676405
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28 September 2017
HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort
1 reference
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PubMed Central
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28 September 2017
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
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28 September 2017
Advances in early kidney specification, development and patterning
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28 September 2017
Functional analysis of BMP4 mutations identified in pediatric CAKUT patients
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PubMed Central
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28 September 2017
Cell and molecular biology of kidney development
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PubMed Central
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28 September 2017
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting
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PubMed Central
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28 September 2017
Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association.
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PubMed Central
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28 September 2017
Genetic and developmental basis for urinary tract obstruction
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28 September 2017
Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4676405
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28 September 2017
Renal aplasia in humans is associated with RET mutations
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PubMed Central
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28 September 2017
Renal abnormalities and their developmental origin
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PubMed Central
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28 September 2017
Genetic approaches to human renal agenesis/hypoplasia and dysplasia
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28 September 2017
Characterization and separation of an inhibitor of viral hemagglutination present in urine.
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PubMed Central
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28 September 2017
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
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PubMed Central
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28 September 2017
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28 September 2017
Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT.
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PubMed Central
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28 September 2017
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28 September 2017
The critical role of tissue angiotensin-converting enzyme as revealed by gene targeting in mice
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28 September 2017
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4676405
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28 September 2017
Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
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PubMed Central
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28 September 2017
X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene
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28 September 2017
Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.
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31 May 2018
Duplex Kidneys: A Correlation of Renal Dysplasia with Position of the Ureteral Orifice
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31 May 2018
RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec.
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Crossref
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21 January 2018
CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT).
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Crossref
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21 January 2018
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes
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21 January 2018
Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion.
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21 January 2018
Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization.
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21 January 2018
High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT
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PubMed
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT)
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PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24398540
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Angiotensinogen gene null-mutant mice lack homeostatic regulation of glomerular filtration and tubular reabsorption
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PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24398540
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Role of the Angiotensin Type 2 Receptor Gene in Congenital Anomalies of the Kidney and Urinary Tract, CAKUT, of Mice and Men
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24398540
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
De Novo Uroplakin IIIa Heterozygous Mutations Cause Human Renal Adysplasia Leading to Severe Kidney Failure
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24398540
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1007/S00467-013-2684-4
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
5110759
Dimensions Publication ID
1050522602
0 references
OpenCitations bibliographic resource ID
5110759
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
5110759
PMC publication ID
4676405
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
5110759
PubMed publication ID
24398540
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
5110759
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