The Mutation, a Key Determinant of Phenotype in ADPKD

2013 
transporterSLC41A1 results in a nephronophthisis-like phenotype. JAmSocNephrol 24: 967–977, 201311. Driscoll JA, Bhalla S, Liapis H, Ibricevic A, Brody SL: Autosomaldominant polycystic kidney disease is associated with an increasedprevalence of radiographic bronchiectasis.Chest 133: 1181–1188,200812. Wabakken T, Rian E, Kveine M, Aasheim HC: The human solute carrierSLC41A1 belongs to a novel eukaryotic subfamily with homology toprokaryotic MgtE Mg21 transporters. Biochem Biophys Res Commun306: 718–724, 200313. Kolisek M, Launay P, Beck A, Sponder G, Serafini N, Brenkus M,Froschauer EM, Martens H, Fleig A, Schweigel M: SLC41A1 is anovelmammalianMg21carrier.JBiolChem283:16235–16247,200814. Kolisek M, Nestler A, Vormann J, Schweigel-Rontgen M: Human geneSLC41A1 encodes for the Na1/Mg²1 exchanger. Am J Physiol CellPhysiol302: C318–C326, 201215. GodronA,HarambatJ,BoccioV,MensireA,MayA,RigothierC,CouziL,BarrouB,GodinM,ChauveauD,FaguerS,ValletM,CochatP,EckartP, Guest G, Guigonis V, Houillier P, Blanchard A, Jeunemaitre X,Vargas-Poussou R: Familial hypomagnesemia with hypercalciuria andnephrocalcinosis: Phenotype-genotype correlation and outcome in 32patientswithCLDN16orCLDN19mutations.ClinJAmSocNephrol7:801–809, 201216. OhbaY,KitagawaH,KitohK,SasakiY,TakamiM,ShinkaiY,KuniedaT:A deletion of the paracellin-1 gene is responsible for renal tubulardysplasia in cattle. Genomics 68: 229–236, 2000See related article, “Mutation of the Mg
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