Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome

Human Mutation

Volumn 17, Issue 5, 2001, Pages 368-373

  Beltcheva, Olga ^a,b   Martin, Paula ^a   Lenkkeri, Ulla ^a   Tryggvason, Karl ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b UNIVERSITY OF OULU   (Finland)

Author keywords

CNF; Congenital nephrotic syndrome; Kidney filtration; Nephrin; NPHS1; Podocytes; The Finnish type

Indexed keywords

NEPHRIN;

AUTOSOMAL RECESSIVE DISORDER; CONGENITAL NEPHROTIC SYNDROME; FINLAND; GENE DELETION; GENE INSERTION; GENE MUTATION; GLOMERULUS FILTRATION; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEINURIA; REVIEW;

CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; FINLAND; GENES, RECESSIVE; GENETIC SCREENING; HUMANS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; NEPHROTIC SYNDROME; PHENOTYPE; POLYMORPHISM, GENETIC; PROTEINS; RNA SPLICE SITES;

EID: 0035038042     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1111     Document Type: Review

References (18)

1. Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type
2. Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish Type, in the Old Order Mennonites
3. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
4. Maternal serum alpha-fetoprotein levels in congenital nephrotic syndrome carrier pregnancies
5. Maternal serum alpha-fetoprotein levels in congenital nephrosis
6. Disease gene mapping in isolated human populations: The example of Finland
7. Main features of the congenital nephrotic syndrome
8. Prenatal screening for congenital nephrosis in east Finland: Results and impact on the birth prevalence of the disease
9. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis
10. Positionally cloned gene for a novel glomerular protein - Nephrin - Is mutated in congenital nephrotic syndrome
11. Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterisation of mutations
12. Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis
13. Positionally cloned gene for a novel glomerular protein nephrin is mutated in congenital nephrotic syndrome
14. Heredity in the congenital nephrotic syndrome. A genetic study of 57 Finnish families with a review of reported cases
15. Hereditary diseases in Finland; rare flora in rare soul
16. Nephrin is specifically located at the slit diaphragm of glomerular podocytes
17. Congenital nephrotic syndrome in mice lacking CD2-associated protein
18. Unraveling the mechanism of glomerular ultrafiltration: Nephrin, a key component of the slit diaphragm