Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

M, Bedin; O, Boyer; A, Servais; Y, Li; L, Villoing-Gaudé; MJ, Tête; A, Cambier; J, Hogan; V, Baudouin; S, Krid; A, Bensman; F, Lammens; F, Louillet; B, Ranchin; C, Vigneau; I, Bouteau; C, Isnard-Bagnis; CJ, Mache; T, Schäfer; L, Pape; M, Gödel; TB, Huber; M, Benz; G, Klaus; M, Hansen; K, Latta; O, Gribouval; V, Morinière; C, Tournant; M, Grohmann; E, Kuhn; T, Wagner; C, Bole-Feysot; F, Jabot-Hanin; P, Nitschké; TS, Ahluwalia; A, Köttgen; CBF, Andersen; C, Bergmann; C, Antignac; M, Simons

doi:10.1172/jci129937

Public

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Shared by NobleBlocks on Jan 1, 2020 • 12:00 AM UTC

Authors:

Bedin M

Boyer O

Servais A

Abstract

BACKGROUNDProteinuria is considered an unfavorable clinical condition that accelerates renal and cardiovascular disease. However, it is not clear whether all forms of proteinuria are damaging. Mutations in CUBN cause Imerslund-Gräsbeck syndrome (IGS), which is characterized by intestinal malabsorpti...

Subject

Genetics

Genetic diseases

Chronic Kidney Disease

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