Genetic testing in steroid-resistant nephrotic syndrome: when and how? (Q33361808)

26 July 2017

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

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6367944&resulttype=core&format=json

13 May 2020

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Svjetlana Lovric

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6367944&resulttype=core&format=json

13 May 2020

Shazia Ashraf

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6367944&resulttype=core&format=json

13 May 2020

Weizhen Tan

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6367944&resulttype=core&format=json

13 May 2020

Friedhelm Hildebrandt

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6367944&resulttype=core&format=json

13 May 2020

language of work or name

English

0 references

publication date

27 October 2015

1 reference

Nephrology Dialysis Transplantation

26 July 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6367944&resulttype=core&format=json

13 May 2020

volume

31

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6367944&resulttype=core&format=json

13 May 2020

page(s)

1802-1813

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6367944&resulttype=core&format=json

13 May 2020

issue

11

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6367944&resulttype=core&format=json

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

13 May 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

21 January 2018

Genetic kidney diseases

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations

21 January 2018

1 reference

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Familial forms of nephrotic syndrome.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

ARHGDIA: a novel gene implicated in nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Secondary focal and segmental glomerulosclerosis associated with single-nucleotide polymorphisms in the genes encoding complement factor H and C3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Defects of CRB2 cause steroid-resistant nephrotic syndrome.

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Mutations in EMP2 cause childhood-onset nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Integrin α3 mutations with kidney, lung, and skin disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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/10.1093%2FNDT%2FGFV355

MYO1E mutations and childhood familial focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Disruption of PTPRO causes childhood-onset nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Mutation analysis of LMX1B gene in nail-patella syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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/10.1093%2FNDT%2FGFV355

Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Podocyte depletion causes glomerulosclerosis: diphtheria toxin-induced podocyte depletion in rats expressing human diphtheria toxin receptor transgene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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/10.1093%2FNDT%2FGFV355

Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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/10.1093%2FNDT%2FGFV355

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/10.1093%2FNDT%2FGFV355

Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

LMX1B mutations cause hereditary FSGS without extrarenal involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Exome sequencing: the sweet spot before whole genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Clinical exome sequencing for genetic identification of rare Mendelian disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Guidelines for investigating causality of sequence variants in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

A systematic survey of loss-of-function variants in human protein-coding genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Podocyte depletion and glomerulosclerosis have a direct relationship in the PAN-treated rat

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFV355

Getting a foothold in nephrotic syndrome

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation

1 reference

12 December 2020

Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency

1 reference

12 December 2020

Individual genomes on the horizon

1 reference

12 December 2020

Identifiers

DOI

10.1093/NDT/GFV355

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6367944&resulttype=core&format=json

13 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6367944&resulttype=core&format=json

13 May 2020

1 reference