Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking.
Michaud
Annie
A
INSERM, U833, Paris, France. annie.michaud@college-de-france.fr
Bur
Daniel
D
Gribouval
Olivier
O
Muller
Laurent
L
Iturrioz
Xavier
X
Clemessy
Maud
M
Gasc
Jean-Marie
JM
Gubler
Marie-Claire
MC
Corvol
Pierre
P
D000595:Amino Acid Sequence; D000818:Animals; D016466:CHO Cells; D002460:Cell Line; D006224:Cricetinae; D003412:Cricetulus; D005260:Female; D006801:Humans; D007687:Kidney Tubules, Proximal / Q000002:abnormalities / Q000473:pathology; D008958:Models, Molecular; D008969:Molecular Sequence Data; D017354:Point Mutation; D011247:Pregnancy; D017434:Protein Structure, Tertiary; D021381:Protein Transport; D011994:Recombinant Proteins / Q000378:metabolism; D012083:Renin / Q000032:analysis / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D016415:Sequence Alignment; D014564:Urogenital Abnormalities / Q000235:genetics* / Q000473:pathology*
D011994:Recombinant Proteins; D012083:Renin