Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice (Q26822256)

focal segmental glomerulosclerosis

main subject

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I. M. Rood

1

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J. K. J. Deegens

series ordinal

2

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J. F. M. Wetzels

series ordinal

3

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language of work or name

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March 2012

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Nephrology Dialysis Transplantation

published in

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volume

27

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page(s)

882-90

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issue

3

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Changing incidence of glomerular disease in Olmsted County, Minnesota: a 30-year renal biopsy study

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Twenty-one-year trend in ESRD due to focal segmental glomerulosclerosis in the United States

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

21 January 2018

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MYO1E mutations and childhood familial focal segmental glomerulosclerosis

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

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NPHS2 variation in sporadic focal segmental glomerulosclerosis

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

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CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

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

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Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis.

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Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

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Donor splice-site mutations in WT1 are responsible for Frasier syndrome

21 January 2018

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Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

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A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease

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Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis.

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

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CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin.

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

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

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

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Congenital disorders of glycosylation: a rare cause of nephrotic syndrome

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Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I

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Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.

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A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

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

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Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome

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Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome

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Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

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WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome.

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Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis

21 January 2018

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

21 January 2018

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Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant

21 January 2018

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NPHS2 variation in focal and segmental glomerulosclerosis

21 January 2018

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Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

21 January 2018

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Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS.

21 January 2018

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Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.

21 January 2018

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CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).

21 January 2018

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Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.

21 January 2018

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TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.

21 January 2018

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TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.

21 January 2018

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A novel TRPC6 mutation that causes childhood FSGS.

21 January 2018

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Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis

21 January 2018

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NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review

21 January 2018

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Broadening the spectrum of diseases related to podocin mutations

21 January 2018

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The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adults

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFR771

Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFR771

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%2FGFR771

Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFR771

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFR771

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFR771

Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFR771

Changing etiologies of unexplained adult nephrotic syndrome: a comparison of renal biopsy findings from 1976-1979 and 1995-1997

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFR771

7 January 2021

Focal segmental glomerulosclerosis: a need for caution in live-related renal transplantation

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFR771

7 January 2021

Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFR771

7 January 2021

Immunosuppressive treatment of focal segmental glomerulosclerosis: lessons from a randomized controlled trial

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https://api.crossref.org/works/10.1093%2FNDT%2FGFR771

7 January 2021

Spectrum of disease in familial focal and segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFR771

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFR771

7 January 2021

Pathologic classification of focal segmental glomerulosclerosis: a working proposal

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFR771

7 January 2021

Molecular Analysis of NPHS2 and ACTN4 Genes in a Series of 33 Italian Patients Affected by Adult-Onset Nonfamilial Focal Segmental Glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFR771

7 January 2021

Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFR771

7 January 2021

Identifiers

DOI

10.1093/NDT/GFR771

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

5120909

OpenCitations bibliographic resource ID

5120909

1 reference