The expanding phenotypic spectra of kidney diseases: insights from genetic studies (Q38885083)

7 September 2017

title

The expanding phenotypic spectra of kidney diseases: insights from genetic studies (English)

1 reference

7 September 2017

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1

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10 June 2020

Rachel H Giles

3

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10 June 2020

5

Nine V A M Knoers

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27374918%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

author name string

Kirsten Y Renkema

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27374918%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Franz Schaefer

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27374918%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Albertien M van Eerde

6

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10 June 2020

publication date

4 July 2016

1 reference

Nature Reviews Nephrology

7 September 2017

language of work or name

English

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published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27374918%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

12

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27374918%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

issue

8

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10 June 2020

page(s)

472-483

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publication type of scholarly work

10 June 2020

review article

1 reference

An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

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Next generation sequencing and the future of genetic diagnosis

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Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

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ARHGDIA: a novel gene implicated in nephrotic syndrome

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Mutations in EMP2 cause childhood-onset nephrotic syndrome

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Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS

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

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

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Exploring the genetic basis of early-onset chronic kidney disease

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Identification of tubular injury microRNA biomarkers in urine: comparison of next-generation sequencing and qPCR-based profiling platforms

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Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing

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Clinical applications of next-generation sequencing in histocompatibility and transplantation

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Next-generation diagnostics: gene panel, exome, or whole genome?

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Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

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Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

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Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome

21 January 2018

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Phenotypic expansion of DGKE-associated diseases

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Advances in Alport syndrome diagnosis using next-generation sequencing

21 January 2018

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Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

21 January 2018

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COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy

21 January 2018

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Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidn

21 January 2018

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Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria

21 January 2018

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Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome

21 January 2018

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Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.

21 January 2018

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Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

21 January 2018

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COL4A3 mutations cause focal segmental glomerulosclerosis

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.

21 January 2018

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Thin basement membrane nephropathy

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Heparin-coated dialyzer membranes: is non-inferiority good enough?

21 January 2018

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DGKE Variants Cause a Glomerular Microangiopathy That Mimics Membranoproliferative GN

21 January 2018

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Complement mutations in diacylglycerol kinase-ε-associated atypical hemolytic uremic syndrome

21 January 2018

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A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

21 January 2018

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Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype

21 January 2018

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Podocyte dysfunction in atypical haemolytic uraemic syndrome

21 January 2018

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Loss of DGKε induces endothelial cell activation and death independently of complement activation

21 January 2018

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Activation of platelet function through G protein-coupled receptors

21 January 2018

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Complement C5b-9-mediated arachidonic acid metabolism in glomerular epithelial cells : role of cyclooxygenase-1 and -2.

21 January 2018

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Cyclosporine induces endothelial cell release of complement-activating microparticles

21 January 2018

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THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia

21 January 2018

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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

21 January 2018

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A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

21 January 2018

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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

21 January 2018

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MKS1 regulates ciliary INPP5E levels in Joubert syndrome

21 January 2018

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A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function

21 January 2018

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Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis

21 January 2018

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A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype

21 January 2018

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Evidence of Oligogenic Inheritance in Nephronophthisis

21 January 2018

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Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.

21 January 2018

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The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

LMX1B mutations cause hereditary FSGS without extrarenal involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Dent Disease with mutations in OCRL1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Genetic testing can resolve diagnostic confusion in Alport syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

A boy with proteinuria and focal global glomerulosclerosis: Question

21 January 2018

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Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

A novel CLCN5 mutation in a boy with asymptomatic proteinuria and focal global glomerulosclerosis

21 January 2018

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Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Next-generation sequencing for research and diagnostics in kidney disease

21 January 2018

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A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis

21 January 2018

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A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

21 January 2018

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Current insights into renal ciliopathies: what can genetics teach us?

21 January 2018

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Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

21 January 2018

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Can chromatin conformation technologies bring light into human molecular pathology?

21 January 2018

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Revolution of nephrology research by deep sequencing: ChIP-seq and RNA-seq

21 January 2018

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Coming of age: ten years of next-generation sequencing technologies

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis

21 January 2018

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The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

21 January 2018

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The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

21 January 2018

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ClinVar: public archive of interpretations of clinically relevant variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Genetic, environmental, and epigenetic factors involved in CAKUT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

An Emerging Molecular Understanding and Novel Targeted Treatment Approaches in Pediatric Kidney Diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Recurrence of focal-segmental glomerulosclerosis in children after renal transplantation: clinical and genetic aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Nephronophthisis: should we target cysts or fibrosis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Benign familial hematuria due to mutation of the type IV collagen alpha4 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Mutations in PAX2 associate with adult-onset FSGS

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

The mitochondrial genome of Arabidopsis thaliana contains 57 genes in 366,924 nucleotides

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

A transcriptional network in polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Dominant negative mutations in the Wilms tumour (WT1) gene cause Denys-Drash syndrome--proof that a tumour-suppressor gene plays a crucial role in normal genitourinary development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

The cellular and physiological functions of the Lowe syndrome protein OCRL1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Mutations in GRIP1 cause Fraser syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Genotype–phenotype associations in WT1 glomerulopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Dismantling papillary renal cell carcinoma classification: The heterogeneity of genetic profiles suggests several independent diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Thin basement membrane disease with heavy proteinuria or nephrotic syndrome at presentation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Unexpected role of TRPC6 channel in familial nephrotic syndrome: does it have clinical implications?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Hypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

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31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Influence of the endothelial nitric oxide synthase polymorphism on the progression of autosomal dominant polycystic kidney disease and IgA nephropathy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Functional models for congenital anomalies of the kidney and urinary tract

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

A map of human genome variation from population-scale sequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Losartan and enalapril are comparable in reducing proteinuria in children with Alport syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2016.87

Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice

31 March 2020

1 reference

12 December 2020

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males

1 reference

12 December 2020

Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort

1 reference

12 December 2020

Pathology vs. molecular genetics: (re)defining the spectrum of Alport syndrome

1 reference

12 December 2020

ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies

1 reference

12 December 2020

Diagnosing kidney disease in the genetic era

1 reference

12 December 2020

PAX2 gene mutation in a family with isolated renal hypoplasia

1 reference

12 December 2020

Mutation in hepatocyte nuclear factor–1β gene (TCF2) associated with MODY

1 reference

12 December 2020

Role of endothelial nitric oxide synthase VNTR (intron 4 a/b) polymorphism on the progression of renal disease in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria

1 reference

12 December 2020

Hereditary and acquired complement dysregulation in membranoproliferative glomerulonephritis

1 reference

12 December 2020