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Journal Abstract Search

215 related items for PubMed ID: 18480181

  • 1. A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc.
    Jaureguiberry G, Carpenter TO, Forman S, Jüppner H, Bergwitz C.
    Am J Physiol Renal Physiol; 2008 Aug; 295(2):F371-9. PubMed ID: 18480181
    [Abstract] [Full Text] [Related]

  • 2. Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria.
    Haito-Sugino S, Ito M, Ohi A, Shiozaki Y, Kangawa N, Nishiyama T, Aranami F, Sasaki S, Mori A, Kido S, Tatsumi S, Segawa H, Miyamoto K.
    Am J Physiol Cell Physiol; 2012 May 01; 302(9):C1316-30. PubMed ID: 22159077
    [Abstract] [Full Text] [Related]

  • 3. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
    Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H.
    Am J Hum Genet; 2006 Feb 01; 78(2):179-92. PubMed ID: 16358214
    [Abstract] [Full Text] [Related]

  • 4. Novel NaPi-2c mutations that cause mistargeting of NaPi-2c protein and uncoupling of Na-Pi cotransport cause HHRH.
    Levi M.
    Am J Physiol Renal Physiol; 2008 Aug 01; 295(2):F369-70. PubMed ID: 18524854
    [No Abstract] [Full Text] [Related]

  • 5. Analysis of opossum kidney NaPi-IIc sodium-dependent phosphate transporter to understand Pi handling in human kidney.
    Fujii T, Shiozaki Y, Segawa H, Nishiguchi S, Hanazaki A, Noguchi M, Kirino R, Sasaki S, Tanifuji K, Koike M, Yokoyama M, Arima Y, Kaneko I, Tatsumi S, Ito M, Miyamoto KI.
    Clin Exp Nephrol; 2019 Mar 01; 23(3):313-324. PubMed ID: 30317447
    [Abstract] [Full Text] [Related]

  • 6. A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient.
    Chi Y, Zhao Z, He X, Sun Y, Jiang Y, Li M, Wang O, Xing X, Sun AY, Zhou X, Meng X, Xia W.
    Bone; 2014 Feb 01; 59():114-21. PubMed ID: 24246249
    [Abstract] [Full Text] [Related]

  • 7. Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.
    Phulwani P, Bergwitz C, Jaureguiberry G, Rasoulpour M, Estrada E.
    Am J Med Genet A; 2011 Mar 01; 155A(3):626-33. PubMed ID: 21344632
    [Abstract] [Full Text] [Related]

  • 8. Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis.
    Tencza AL, Ichikawa S, Dang A, Kenagy D, McCarthy E, Econs MJ, Levine MA.
    J Clin Endocrinol Metab; 2009 Nov 01; 94(11):4433-8. PubMed ID: 19820004
    [Abstract] [Full Text] [Related]

  • 9. Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications.
    Kremke B, Bergwitz C, Ahrens W, Schütt S, Schumacher M, Wagner V, Holterhus PM, Jüppner H, Hiort O.
    Exp Clin Endocrinol Diabetes; 2009 Feb 01; 117(2):49-56. PubMed ID: 18523928
    [Abstract] [Full Text] [Related]

  • 10. An apical expression signal of the renal type IIc Na+-dependent phosphate cotransporter in renal epithelial cells.
    Ito M, Sakurai A, Hayashi K, Ohi A, Kangawa N, Nishiyama T, Sugino S, Uehata Y, Kamahara A, Sakata M, Tatsumi S, Kuwahata M, Taketani Y, Segawa H, Miyamoto K.
    Am J Physiol Renal Physiol; 2010 Jul 01; 299(1):F243-54. PubMed ID: 20410212
    [Abstract] [Full Text] [Related]

  • 11. Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred.
    Yu Y, Sanderson SR, Reyes M, Sharma A, Dunbar N, Srivastava T, Jüppner H, Bergwitz C.
    Bone; 2012 May 01; 50(5):1100-6. PubMed ID: 22387237
    [Abstract] [Full Text] [Related]

  • 12. Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.
    Bergwitz C, Miyamoto KI.
    Pflugers Arch; 2019 Jan 01; 471(1):149-163. PubMed ID: 30109410
    [Abstract] [Full Text] [Related]

  • 13. Role of the putative PKC phosphorylation sites of the type IIc sodium-dependent phosphate transporter in parathyroid hormone regulation.
    Fujii T, Segawa H, Hanazaki A, Nishiguchi S, Minoshima S, Ohi A, Tominaga R, Sasaki S, Tanifuji K, Koike M, Arima Y, Shiozaki Y, Kaneko I, Ito M, Tatsumi S, Miyamoto KI.
    Clin Exp Nephrol; 2019 Jul 01; 23(7):898-907. PubMed ID: 30895530
    [Abstract] [Full Text] [Related]

  • 14. Relationship between sodium-dependent phosphate transporter (NaPi-IIc) function and cellular vacuole formation in opossum kidney cells.
    Shiozaki Y, Segawa H, Ohnishi S, Ohi A, Ito M, Kaneko I, Kido S, Tatsumi S, Miyamoto K.
    J Med Invest; 2015 Jul 01; 62(3-4):209-18. PubMed ID: 26399350
    [Abstract] [Full Text] [Related]

  • 15. Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
    Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM.
    Am J Hum Genet; 2006 Feb 01; 78(2):193-201. PubMed ID: 16358215
    [Abstract] [Full Text] [Related]

  • 16. Renal-specific and inducible depletion of NaPi-IIc/Slc34a3, the cotransporter mutated in HHRH, does not affect phosphate or calcium homeostasis in mice.
    Myakala K, Motta S, Murer H, Wagner CA, Koesters R, Biber J, Hernando N.
    Am J Physiol Renal Physiol; 2014 Apr 15; 306(8):F833-43. PubMed ID: 24553430
    [Abstract] [Full Text] [Related]

  • 17. Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.
    Wagner CA, Rubio-Aliaga I, Hernando N.
    Pediatr Nephrol; 2019 Apr 15; 34(4):549-559. PubMed ID: 29275531
    [Abstract] [Full Text] [Related]

  • 18. [Updates on rickets and osteomalacia: the role of NaPi-2c/SLC34A3 and hypophosphataemic rickets].
    Segawa H, Shiozaki Y, Minoshima S, Miyamoto K.
    Clin Calcium; 2013 Oct 15; 23(10):1445-50. PubMed ID: 24076642
    [Abstract] [Full Text] [Related]

  • 19. Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.
    Dhir G, Li D, Hakonarson H, Levine MA.
    Bone; 2017 Apr 15; 97():15-19. PubMed ID: 27939817
    [Abstract] [Full Text] [Related]

  • 20. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine.
    Schinke T, Oheim R.
    Kidney Int; 2024 May 15; 105(5):927-929. PubMed ID: 38642991
    [Abstract] [Full Text] [Related]

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