Characterization of the NPHS2 gene, encoding for the glomerular protein podocin, involved in a familial form of steroid-resistant nephrotic syndrome;Caractérisation du gène NPHS2, codant pour la protéine glomérulaire podocine, impliqué dans une forme familiale de syndrome néphrotique cortico-résistant de transmission autosomique récessive

Nephrologie

Volumn 23, Issue 1, 2002, Pages 35-36

  Boute, N ^a   Roselli, S ^a   Gribouval, O ^a   Niaudet, P ^a   Gubler, M Cl ^a   Antignac, C ^a  

^a CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PODOCIN; PROTEIN; STEROID; UNCLASSIFIED DRUG;

EXON; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; HUMAN; INTRON; NEPHROTIC SYNDROME; NOTE; PROTEIN ANALYSIS; STEROID THERAPY;

ADRENAL CORTEX HORMONES; AGE OF ONSET; ANIMALS; BLOOD PROTEINS; CAENORHABDITIS ELEGANS PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; DNA MUTATIONAL ANALYSIS; DRUG RESISTANCE; EXONS; FRANCE; GENETIC HETEROGENEITY; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; IN SITU HYBRIDIZATION; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY GLOMERULUS; MEMBRANE PROTEINS; NEPHROTIC SYNDROME; PROTEIN STRUCTURE, TERTIARY; SEQUENCE HOMOLOGY, AMINO ACID; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 0036179753     PISSN: 02504960     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Note

References (12)

1. Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome
2. Nephrin is specifically located at the slit diaphragm of glomerular podocytes
3. Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity
4. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis
5. Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis
6. Evaluation of a new tool for exploring podocyte biology: Mouse Nphs1 5′ flanking region drives LacZ expression in podocytes
7. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
8. A locus for adolescent and adult onset familial focal segmental glomerulosclerosis on chromosome 1q25-31
9. A stomatin-like protein necessary for mechanosensation in C. elegans
10. Isolation of cDNA coding for an ubiquitous membrane protein deficient in high Na+, low K+ stomatocytic erythrocytes
11. Stomatin, a MEC-2 like protein, is expressed by mammalian sensory neurons
12. The glomerular slit diaphragm is a modified adherens junction