NPHS1

AcronymDefinition
NPHS1Congenital Nephrotic Syndrome
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References in periodicals archive ?
Mucha et al., "No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations," Pediatric Nephrology, vol.
More than 220 mutations have been described in the NPHS1 gene; the majority of these mutations were truncation and missense mutations.
[14] screened the four genes NPHS1 (OMIM * 602716), NPHS2 (OMIM * 604766), WT1 (OMIM * 607102), and LAMB2 (OMIM * 150325) in a large European cohort of 89 children from 80 families with NS manifesting in the first year oflife.
Mutations in the NPHS1, NPHS2 and PLCE1 genes have been found in most of the severe cases of congenital and early onset NS, whereas, mutations in the LAMB2 and WT1 genes are found in syndromic NS.
Mutational analysis of seven podocyte genes (NPHS1, NPHS2, WT1, CD2AP, ACTN4, TRPC6 and PLCE1) in 19 non-familial childhood-onset, steroid resistant, biopsy-proven FSGS patients revealed variants of NPHS1, NPHS2, WT1 and CD2AP that could be the cause of the disease in four subjects (21%).
WT1 regulates the expression of Nphs1 and Podxl in mice, as both transcripts are reduced in Wt1 knockouts [132].
18 All-trans retinoic acid has been shown to promote podocyte differentiation in vivo and in vitro, and to reduce proliferation and increase expression of NPHS1 and NPHS2.
The WT1 gene encodes for a transcription factor that is critical for the development of podocytes and viability; the regulation of podocyte homeostasis occurs via PODXL and NPHS1 [7].
In a large European cohort of 89 children with INS occurring during first year of life, two thirds of the cases were attributable to mutations of one of the four genes; NPHS1, NPHS2, WT1 and LAMB2.
A product of the NPHS1 gene located on chromosome 19, this protein is crucial for the integrity of the slit diaphragm, and abnormalities in this protein can lead to proteinuria and nephrotic syndrome.
Congenital nephrotic syndrome of the Finnish type (CNF or NPHS1; [4] MIM 256300) is a recessively inherited severe disorder of infancy.