NPHS1

Acronym	Definition
NPHS1	Congenital 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.

R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome

More than 220 mutations have been described in the NPHS1 gene; the majority of these mutations were truncation and missense mutations.

Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome

[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.

NPHS2 Mutations: A Closer Look to Latin American Countries

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.

Understanding the pathogenesis of focal segmental glomerulosclerosis: morphology vs. molecules

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%).

Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis--a single-centre experience

WT1 regulates the expression of Nphs1 and Podxl in mice, as both transcripts are reduced in Wt1 knockouts [132].

A compendium of urinary biomarkers indicative of glomerular podocytopathy

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.

Advances in the biology and genetics of the podocytopathies: implications for diagnosis and therapy

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].

Cytoplasmic Localization of WT1 and Decrease of miRNA-16-1 in Nephrotic Syndrome

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.

Beyond morphology: unraveling the genetic basis of childhood nephrotic syndrome in Pakistan

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.

Factors affecting circulating mRNA for Nephrin

The major culprits have been identified in nephrin (NPHS1) and podocin (NPHS2) [8-13], among the many others.

Constitutional nephrin deficiency in conditionally immortalized human podocytes induced epithelial-mesenchymal transition, supported by [beta]-catenin/NF-kappa B activation: a consequence of cell junction impairment?

Congenital nephrotic syndrome of the Finnish type (CNF or NPHS1; [4] MIM 256300) is a recessively inherited severe disorder of infancy.

Detection of the Finnish-type congenital nephrotic syndrome by restriction fragment length polymorphism and dual-color oligonucleotide ligation assays