Exploring the genetic basis of early-onset chronic kidney disease (Q34508359)

2 August 2017

title

Exploring the genetic basis of early-onset chronic kidney disease (English)

1 reference

2 August 2017

1

Asaf Vivante

1 reference

2 August 2017

author name string

Friedhelm Hildebrandt

series ordinal

2

1 reference

2 August 2017

language of work or name

English

0 references

publication date

11 January 2016

1 reference

Nature Reviews Nephrology

2 August 2017

published in

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2 August 2017

volume

12

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2 August 2017

issue

3

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2 August 2017

page(s)

133-146

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Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

2 August 2017

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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

7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

7 July 2018

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7 July 2018

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7 July 2018

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Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

7 July 2018

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7 July 2018

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Genetic screening in adolescents with steroid-resistant nephrotic syndrome

7 July 2018

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Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations

7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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

7 July 2018

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7 July 2018

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7 July 2018

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Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis

7 July 2018

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Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria

7 July 2018

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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

7 July 2018

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

7 July 2018

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MYO1E mutations and childhood familial focal segmental glomerulosclerosis

7 July 2018

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Disruption of PTPRO causes childhood-onset nephrotic syndrome

7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

7 July 2018

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7 July 2018

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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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

7 July 2018

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Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis

7 July 2018

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Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III

7 July 2018

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The apolipoprotein L1 (APOL1) gene and nondiabetic nephropathy in African Americans

7 July 2018

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A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9

7 July 2018

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Association of trypanolytic ApoL1 variants with kidney disease in African Americans

7 July 2018

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Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene

7 July 2018

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Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

7 July 2018

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

7 July 2018

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7 July 2018

Genetic kidney diseases

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Molecular diagnostics for autosomal dominant polycystic kidney disease

7 July 2018

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Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

7 July 2018

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Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6

7 July 2018

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Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

7 July 2018

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

7 July 2018

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A systematic approach to mapping recessive disease genes in individuals from outbred populations

7 July 2018

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Nephronophthisis: disease mechanisms of a ciliopathy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Outcomes of kidney transplantation in children with nephronophthisis: an analysis of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS) Registry

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Genetic mapping in human disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

NHERF1 mutations and responsiveness of renal parathyroid hormone

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

SIX2 and BMP4 mutations associate with anomalous kidney development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Mutations in FN1 cause glomerulopathy with fibronectin deposits.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

The impact of next-generation sequencing technology on genetics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Prevalence of chronic kidney disease in the United States

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

The spectrum of podocytopathies: a unifying view of glomerular diseases.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Familial haemolytic uraemic syndrome and an MCP mutation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Molecular identification of a renal urate anion exchanger that regulates blood urate levels

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Human factor H-related protein 5 (FHR-5). A new complement-associated protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

GATA3 haplo-insufficiency causes human HDR syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo, AT) of rBAT

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Paracellin-1, a renal tight junction protein required for paracellular Mg2 resorption

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Mutations in the gene encoding B1 subunit of H -ATPase cause renal tubular acidosis with sensorineural deafness

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Mutation of PAX2 in two siblings with renal-coloboma syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

A common molecular basis for three inherited kidney stone diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Contributions of the Transplant Registry: The 2006 Annual Report of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS).

7 July 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

The search for monogenic causes of kidney stones

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Renal aplasia in humans is associated with RET mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Mutation analysis of LMX1B gene in nail-patella syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Mutations inCYP24A1and Idiopathic Infantile Hypercalcemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Congenital nephrotic syndrome in mice lacking CD2-associated protein

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5202482

Getting a foothold in nephrotic syndrome

27 October 2018

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Genetic testing in steroid-resistant nephrotic syndrome: when and how?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Alport syndrome with diffuse leiomyomatosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K channel, ROMK

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRNEPH.2015.205

A missense mutation in podocin leads to early and severe renal disease in mice

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26750453

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Basic research: Ret signaling reveals insights into the pathogenesis of CAKUT

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26750453

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Suggestive evidence for a susceptibility gene near the vitamin D receptor locus in idiopathic calcium stone formation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26750453

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NRNEPH.2015.205

1 reference

Dimensions Publication ID

2 August 2017

0 references

1 reference

2 August 2017

1 reference