WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome. (Q51732914)

11 April 2018

title

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

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11 April 2018

author name string

Hee Yeon Cho

1

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11 April 2018

Joo Hoon Lee

2

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11 April 2018

Hyun Jin Choi

3

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11 April 2018

Bum Hee Lee

4

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11 April 2018

Il Soo Ha

5

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11 April 2018

Yong Choi

6

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11 April 2018

Hae Il Cheong

7

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11 April 2018

publication date

13 October 2007

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11 April 2018

published in

Pediatric Nephrology

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11 April 2018

volume

23

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11 April 2018

page(s)

63-70

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11 April 2018

issue

1

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11 April 2018

https://scigraph.springernature.com/pub.10.1007/s00467-007-0620-1

exact match

0 references

cites work

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

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Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients

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

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WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes

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Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome

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

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Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome

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

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Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.

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NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele

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46,XY phenotypic male with focal segmental glomerulosclerosis caused by the WT1 splice site mutation

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CD2-associated protein and glomerular disease

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The candidate Wilms' tumour gene is involved in genitourinary development

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WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis.

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Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.

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12 December 2020

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

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Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.

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WT-1 and NPHS2 mutation analysis in patients with non-familial steroid-resistant focal-segmental glomerulosclerosis

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WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour.

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

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Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome

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Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

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WT1 and glomerular diseases

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

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

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CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

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

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12 December 2020

10.1007/S00467-007-0620-1

Identifiers

DOI

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11 April 2018

PubMed ID

17934764

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11 April 2018