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

PubMed publication ID

26507970

26 July 2017

title

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

1 reference

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

13 May 2020

1 reference

Svjetlana Lovric

1

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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

PubMed publication ID

26507970

Nephrology Dialysis Transplantation

26 July 2017

published in

1 reference

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

13 May 2020

volume

31

1 reference

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

13 May 2020

issue

11

1 reference

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13 May 2020

page(s)

1802-1813

1 reference

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

21 January 2018

Genetic kidney diseases

1 reference

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Familial forms of nephrotic syndrome.

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

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ARHGDIA: a novel gene implicated in nephrotic syndrome

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

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

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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

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Defects of CRB2 cause steroid-resistant nephrotic syndrome.

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

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DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN

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Mutations in EMP2 cause childhood-onset nephrotic syndrome

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Integrin α3 mutations with kidney, lung, and skin disease

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KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

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

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

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MYO1E mutations and childhood familial focal segmental glomerulosclerosis

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

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

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

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Disruption of PTPRO causes childhood-onset nephrotic syndrome

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutation analysis of LMX1B gene in nail-patella syndrome patients

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

21 January 2018

1 reference

LMX1B mutations cause hereditary FSGS without extrarenal involvement

21 January 2018

1 reference

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Exome sequencing: the sweet spot before whole genomes

21 January 2018

1 reference

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

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

21 January 2018

1 reference

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 January 2018

1 reference

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

21 January 2018

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Clinical exome sequencing for genetic identification of rare Mendelian disorders

21 January 2018

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Guidelines for investigating causality of sequence variants in human disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

PubMed publication ID

26507970

1 reference