[Characterization of the NPH2 gene, coding for the glomerular protein podocin, implicated in a familial form of cortico-resistant nephrotic syndrome transmitted as an autosomal recessive].
Boute
Nicolas
N
Institut Cochin de génétique moléculaire, Paris.
Roselli
S
S
Gribouval
O
O
Niaudet
P
P
Gubler
M-Cl
MC
Antignac
C
C
D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D017668:Age of Onset; D000818:Animals; D001798:Blood Proteins / Q000737:chemistry; D029742:Caenorhabditis elegans Proteins / Q000737:chemistry; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D004252:DNA Mutational Analysis; D004351:Drug Resistance / Q000235:genetics; D005091:Exons / Q000235:genetics; D005602:France / Q000453:epidemiology; D018740:Genetic Heterogeneity; D005923:Glomerulosclerosis, Focal Segmental / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism; D006801:Humans; D017403:In Situ Hybridization; D047908:Intracellular Signaling Peptides and Proteins; D007678:Kidney Glomerulus / Q000378:metabolism / Q000473:pathology; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D009404:Nephrotic Syndrome / Q000145:classification / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D017434:Protein Structure, Tertiary; D017386:Sequence Homology, Amino Acid; D013329:Structure-Activity Relationship
D000305:Adrenal Cortex Hormones; D001798:Blood Proteins; D029742:Caenorhabditis elegans Proteins; D047908:Intracellular Signaling Peptides and Proteins; C096705:MEC-2 protein, C elegans; D008565:Membrane Proteins; C407223:NPHS2 protein; C036860:STOM protein, human