| Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease. | Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease.
Sadeghi-Alavijeh O, Chan MMY, Moochhala SH, Genomics England Research Consortium, Howles S, Gale DP, Böckenhauer D. | 01/31/2024 |
| Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants. | Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants.
Brazier F, Courbebaisse M, David A, Bergerat D, Leroy C, Lindner M, Maruani G, Saint Jacques C, Letavernier E, Hureaux M, Vargas-Poussou R, Prié D., Free PMC Article | 03/9/2023 |
| The genetic polymorphisms of XPR1 and SCL34A3 are associated with Fanconi syndrome in Chinese patients of tumor-induced osteomalacia. | The genetic polymorphisms of XPR1 and SCL34A3 are associated with Fanconi syndrome in Chinese patients of tumor-induced osteomalacia.
Jiang Y, Li X, Feng J, Li M, Wang O, Xing XP, Xia WB. | 11/6/2021 |
| Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria. | Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria.
Yu S, Chen WX, Lu W, Chen C, Ni Y, Duan B, Wang B, Wang H, Xu ZM., Free PMC Article | 04/3/2021 |
| Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria. | Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.
Gordon RJ, Li D, Doyle D, Zaritsky J, Levine MA., Free PMC Article | 02/6/2021 |
| Of the twelve family members three were homozygote and seven heterozygote for the same solute carrier family 34 (sodium phosphate), member 3 protein (SLC34A3) variant. | SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria.
Hasani-Ranjbar S, Ejtahed HS, Amoli MM, Bitarafan F, Qorbani M, Soltani A, Yarjoo B., Free PMC Article | 02/9/2019 |
| genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3 | Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.
Acar S, BinEssa HA, Demir K, Al-Rijjal RA, Zou M, Çatli G, Anık A, Al-Enezi AF, Özışık S, Al-Faham MSA, Abacı A, Dündar B, Kattan WE, Alsagob M, Kavukçu S, Tamimi HE, Meyer BF, Böber E, Shi Y., Free PMC Article | 07/7/2018 |
| This is the report of a patient with compound heterozygous mutations of SLC34A3 and normal skeletal features. Biallelic mutations in SLC34A3 can thus be associated with hypercalciuria not accompanied by rickets. | Association between compound heterozygous mutations of SLC34A3 and hypercalciuria.
Abe Y, Nagasaki K, Watanabe T, Abe T, Fukami M. | 04/4/2015 |
| Individuals with mutations affecting both SLC34A3 alleles had a significantly increased risk of kidney stone formation or medullary nephrocalcinosis, namely 46% compared with 6% observed in healthy family members carrying only the wild-type allele. | Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C., Free PMC Article | 12/20/2014 |
| this study reports the first cases of hereditary hypophosphatemic rickets with hypercalciuria in Africa and describes a novel causal mutation within the SLC34A3 gene | Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family.
Braithwaite V, Pettifor JM, Prentice A., Free PMC Article | 08/31/2013 |
| A man with hereditary hypophosphataemic rickets with hypercalciuria & his 3 heterozygous children had a mutation in intron 5 of gene SLC34A3 (NM_080877.2:c[ 448 +5G>A] + [ 448 +5G>A]). | Hereditary hypophosphatemic rickets with hypercalciuria: case report.
Areses-Trapote R, López-García JA, Ubetagoyena-Arrieta M, Eizaguirre A, Sáez-Villaverde R. | 12/8/2012 |
| Data show 101-bp deletion in intron 9 of the SLC34A3 gene. | 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., Free PMC Article | 10/20/2012 |
| SLC34A3 mutations (exons and introns) were searched in two previously not reported hereditary hypophosphatemic rickets with hypercalciuria kindreds, which resulted in the identification of three novel mutations. | 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., Free PMC Article | 08/11/2012 |
| these data suggest that mutations in SLC34A3 in hereditary hypophosphatemic rickets with hypercalciuria result in defective processing and stability | 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. | 06/23/2012 |
| Novel mutation in the SLC34A3 gene in a patient with an unusual presentation of hereditary hypophosphatemic rickets with hypercalciuria. | 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., Free PMC Article | 01/21/2010 |
| A novel missense mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in humans. | 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., Free PMC Article | 01/21/2010 |
| Hereditary hypophosphatemic rickets with hypercalciuria were speculated to be associated with the abnormal functions of phosphate transporter gene type IIc. | 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. | 01/21/2010 |
| Loss of function of the SLC34A3 protein presumably results in a primary renal tubular defect and is compatible with the hereditary hypophosphatemic rickets with hypercalciuria phenotype. | 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., Free PMC Article | 01/21/2010 |
| NaP(i)-IIc has a key role in the regulation of phosphate homeostasis. | 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., Free PMC Article | 01/21/2010 |
| Therefore, understanding the mechanisms that control the apical expression of NaPi-IIa and NaPi-IIc as well as their functional properties is critical to understanding how an organism achieves P i homeostasis. | Proximal tubular handling of phosphate: A molecular perspective.
Forster IC, Hernando N, Biber J, Murer H. | 01/21/2010 |
| Functionally important sites in the predicted first and fourth extracellular linkers of the type IIa Na+/Pi cotransporter (NaPi-IIa) were identified by cysteine scanning mutagenesis (Ehnes et al., 2004). | Structure-function relations of the first and fourth extracellular linkers of the type IIa Na+/Pi cotransporter: II. Substrate interaction and voltage dependency of two functionally important sites.
Ehnes C, Forster IC, Bacconi A, Kohler K, Biber J, Murer H., Free PMC Article | 01/21/2010 |