title: Alport familial nephritis. Absence of 28 kilodalton non-collagenous monomers of type IV collagen in glomerular basement membrane.
abstract: Alport-type familial nephritis (FN), a genetic disorder, results in progressive renal insufficiency and sensorineural hearing loss. Immunochemical and biochemical analyses of the non-collagenous (NC1) domain of type IV collagen isolated from the glomerular basement membranes (GBM) of three males with this disease demonstrate absence of the normally occurring 28-kilodalton (kD) NC1 monomers, but persistence of the 26- and 24-kD monomeric subunits derived from alpha 1 and 2 (both type IV) collagen chains, respectively.
authors.forename: M M
authors.initials: MM
authors.lastname: Kleppel
authors.forename: C E
authors.initials: CE
authors.lastname: Kashtan
authors.forename: R J
authors.initials: RJ
authors.lastname: Butkowski
authors.forename: A J
authors.initials: AJ
authors.lastname: Fish
authors.forename: A F
authors.initials: AF
authors.lastname: Michael
mesh_terms: D001485:Basement Membrane / Q000378:metabolism; D003094:Collagen / Q000378:metabolism*; D004591:Electrophoresis, Polyacrylamide Gel; D006801:Humans; D007124:Immunoenzyme Techniques; D007678:Kidney Glomerulus / Q000378:metabolism*; D046911:Macromolecular Substances; D008297:Male; D009394:Nephritis, Hereditary / Q000378:metabolism*
chemical_list: D046911:Macromolecular Substances; D003094:Collagen