Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children

Journal of the American Society of Nephrology

Volumn 13, Issue 2, 2002, Pages 400-405

  Frishberg, Yaacov ^a   Rinat, Choni ^a   Megged, Orli ^a   Shapira, Eli ^a   Feinstein, Sofia ^a   Raas Rothschild, Annick ^a  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOSUPPRESSIVE AGENT; PODOCIN; PROTEIN; STEROID; UNCLASSIFIED DRUG; MEMBRANE PROTEIN; SIGNAL PEPTIDE;

ARAB; ARTICLE; CELL PROLIFERATION; CHILD; CLINICAL ARTICLE; ETHNIC DIFFERENCE; GENE MUTATION; GENETIC POLYMORPHISM; GLOMERULOSCLEROSIS; HAPLOTYPE; HOMOZYGOSITY; HUMAN; ISRAEL; JEW; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MESANGIUM CELL; NEPHROTIC SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; BIOPSY; CHROMOSOME MAP; DRUG RESISTANCE; ETHNOLOGY; FEMALE; GENETIC LINKAGE; GENETICS; HOMOZYGOTE; INFANT; KIDNEY; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE;

ARABS; BIOPSY; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; DRUG RESISTANCE; FEMALE; HOMOZYGOTE; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; ISRAEL; JEWS; KIDNEY; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MUTATION; NEPHROTIC SYNDROME; PEDIGREE; POLYMORPHISM, GENETIC; STEROIDS;

EID: 0036007347     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. Steroid-responsive nephritic syndrome
2. Pathogenesis of lipoid nephrosis: A disorder of T cell function
3. Nephrotic syndrome associated with T-cell lymphoma
4. Identification of the lymphokine soluble immune response suppressor in urine of nephrotic children
5. The vascular permeability factor is a T lymphocyte product
6. Do circulating factors play a role in the pathogenesis of minimal change nephrotic syndrome?
7. The immune system in minimal change nephrotic syndrome
8. A glomerular permeability factor produced by human T cell hybridomas
9. Mechanisms of proteinuria in noninflammatory glomerular diseases
10. Circulating factor associated with increased glomerular permeability to albumin in recurrent focal segmental glomerulosclerosis
11. Steroid-resistant idiopathic nephritic syndrome
12. Racial differences in the incidence and renal outcome of idiopathic focal segmental glomerulosclerosis in children
13. Genetic polymorphisms of the renin-angiotensin system and the outcome of focal segmental glomerulosclerosis in children
14. Getting a foothold in nephrotic syndrome
15. Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephritic syndrome
16. Nephrin is specifically located at the slit diaphragm of glomerular podocytes
17. Mutations in ACTN4, encoding alpha-actinin-4, causes familial focal segmental glomerulosclerosis
18. Podocyte alpha-actinin induction precedes foot process effacement in experimental nephrotic syndrome
19. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
20. Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephritic syndrome confirms a distinct entity of autosomal recessive nephrosis
21. Fast and sensitive silver staining of DNA in polyacrylamide gels
22. A system for rapid DNA sequencing with fluorescent chain-terminating dideoxynucleotides
23. Modifier genes in humans: Strategies for identification
24. Understanding the nature of renal disease progression