[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]

Nephrologie. 2002;23(1):35-6.

[Article in French]

Authors

Nicolas Boute¹, S Roselli, O Gribouval, P Niaudet, M-Cl Gubler, C Antignac

Affiliation

¹ Institut Cochin de génétique moléculaire, Paris.

PMID: 11908478

No abstract available

Publication types

Comparative Study

MeSH terms

Adrenal Cortex Hormones / therapeutic use
Age of Onset
Animals
Blood Proteins / chemistry
Caenorhabditis elegans Proteins / chemistry
Chromosome Mapping
Chromosomes, Human, Pair 1 / genetics
DNA Mutational Analysis
Drug Resistance / genetics
Exons / genetics
France / epidemiology
Genetic Heterogeneity
Glomerulosclerosis, Focal Segmental / epidemiology
Glomerulosclerosis, Focal Segmental / genetics
Glomerulosclerosis, Focal Segmental / metabolism
Humans
In Situ Hybridization
Intracellular Signaling Peptides and Proteins
Kidney Glomerulus / metabolism
Kidney Glomerulus / pathology
Membrane Proteins / chemistry
Membrane Proteins / genetics*
Membrane Proteins / physiology
Nephrotic Syndrome / classification
Nephrotic Syndrome / drug therapy
Nephrotic Syndrome / genetics*
Nephrotic Syndrome / metabolism
Protein Structure, Tertiary
Sequence Homology, Amino Acid
Structure-Activity Relationship

Substances

Adrenal Cortex Hormones
Blood Proteins
Caenorhabditis elegans Proteins
Intracellular Signaling Peptides and Proteins
MEC-2 protein, C elegans
Membrane Proteins
NPHS2 protein
STOM protein, human