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Items: 1 to 20 of 117

1.

[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;23(10):1445-50. doi: CliCa131014451450. Review. Japanese.

PMID:
24076642
2.

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;78(2):179-92.

3.

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;59:114-21. doi: 10.1016/j.bone.2013.11.008.

PMID:
24246249
4.

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;78(2):193-201.

5.

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;117(2):49-56. doi: 10.1055/s-2008-1076716.

6.

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 1;302(9):C1316-30. doi: 10.1152/ajpcell.00314.2011.

7.

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report.

Mejia-Gaviria N, Gil-Peña H, Coto E, Pérez-Menéndez TM, Santos F.

Orphanet J Rare Dis. 2010 Jan 14;5:1. doi: 10.1186/1750-1172-5-1.

8.

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;50(5):1100-6. doi: 10.1016/j.bone.2012.02.015. Erratum in: Bone. 2012 May;50(5):1206.

9.

SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria.

Hasani-Ranjbar S, Amoli MM, Ebrahim-Habibi A, Dehghan E, Soltani A, Amiri P, Larijani B.

J Clin Res Pediatr Endocrinol. 2012 Jun;4(2):89-93. doi: 10.4274/jcrpe.601.

10.

Npt2a and Npt2c in mice play distinct and synergistic roles in inorganic phosphate metabolism and skeletal development.

Segawa H, Onitsuka A, Furutani J, Kaneko I, Aranami F, Matsumoto N, Tomoe Y, Kuwahata M, Ito M, Matsumoto M, Li M, Amizuka N, Miyamoto K.

Am J Physiol Renal Physiol. 2009 Sep;297(3):F671-8. doi: 10.1152/ajprenal.00156.2009.

11.

Hereditary hypophosphatemic rickets with hypercalciuria: case report.

Areses-Trapote R, López-García JA, Ubetagoyena-Arrieta M, Eizaguirre A, Sáez-Villaverde R.

Nefrologia. 2012 Jul 17;32(4):529-34. doi: 10.3265/Nefrologia.pre2012.Apr.11321. English, Spanish.

12.

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. doi: 10.1152/ajprenal.00133.2013.

13.

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;295(2):F369-70. doi: 10.1152/ajprenal.90327.2008. No abstract available.

14.

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;94(11):4433-8. doi: 10.1210/jc.2009-1535.

15.

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;155A(3):626-33. doi: 10.1002/ajmg.a.33832.

16.

Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function.

Yamamoto T, Michigami T, Aranami F, Segawa H, Yoh K, Nakajima S, Miyamoto K, Ozono K.

J Bone Miner Metab. 2007;25(6):407-13.

PMID:
17968493
17.

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. doi: 10.1152/ajprenal.00090.2008.

18.

Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria.

Ichikawa S, Tuchman S, Padgett LR, Gray AK, Baluarte HJ, Econs MJ.

Bone. 2014 Feb;59:53-6. doi: 10.1016/j.bone.2013.10.018.

19.

Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria.

Ichikawa S, Sorenson AH, Imel EA, Friedman NE, Gertner JM, Econs MJ.

J Clin Endocrinol Metab. 2006 Oct;91(10):4022-7.

PMID:
16849419
20.

Identification and functional analysis of a splice variant of mouse sodium-dependent phosphate transporter Npt2c.

Kuwahara S, Aranami F, Segawa H, Onitsuka A, Honda N, Tominaga R, Hanabusa E, Kaneko I, Yamanaka S, Sasaki S, Ohi A, Nomura K, Tatsumi S, Kido S, Ito M, Miyamoto K.

J Med Invest. 2012;59(1-2):116-26.

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