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
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Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho)Extracellular matrix mineralization in periodontal tissues: Noncollagenous matrix proteins, enzymes, and relationship to hypophosphatasia and X-linked hypophosphatemiaGenetic disorders of phosphate regulationAutosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile HypercalcemiaPhosphate homeostasis and its role in bone healthRecent advances in the renal-skeletal-gut axis that controls phosphate homeostasisDetecting low frequent loss-of-function alleles in genome wide association studies with red hair color as exampleRegulation of renal sodium-dependent phosphate co-transporter genes (Npt2a and Npt2c) by all-trans-retinoic acid and its receptorsDifferential regulation of the renal sodium-phosphate cotransporters NaPi-IIa, NaPi-IIc, and PiT-2 in dietary potassium deficiencyParathyroid hormone-dependent endocytosis of renal type IIc Na-Pi cotransporterOrganization of the pronephric kidney revealed by large-scale gene expression mapping.GABARAP deficiency modulates expression of NaPi-IIa in renal brush-border membranesGenetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report.Response of Npt2a knockout mice to dietary calcium and phosphorus.Developmental changes in renal tubular transport-an overview.Phosphaturia as a promising predictor of recurrent stone formation in patients with urolithiasisPhosphate-induced apoptosis of hypertrophic chondrocytes is associated with a decrease in mitochondrial membrane potential and is dependent upon Erk1/2 phosphorylation.A novel nonsense mutation in the DMP1 gene identified by a genome-wide association study is responsible for inherited rickets in Corriedale sheep.The receptor-dependent actions of 1,25-dihydroxyvitamin D are required for normal growth plate maturation in NPt2a knockout mice.Tumor-induced osteomalacia.Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.Shank2 redistributes with NaPilla during regulated endocytosisAutosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5Recent advances in renal phosphate handling.Acute down-regulation of sodium-dependent phosphate transporter NPT2a involves predominantly the cAMP/PKA pathway as revealed by signaling-selective parathyroid hormone analogsThree novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability.Acute phosphate restriction leads to impaired fracture healing and resistance to BMP-2.Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.Approach to the hypophosphatemic patientNovel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred.Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation SequencingPTH-mediated inhibition of the renal transport of phosphateSLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria.NHERF-1 and the regulation of renal phosphate reabsoption: a tale of three hormonesFanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications.Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family.Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23.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.Hypophosphatemic rickets and osteomalacia.
P2860
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P2860
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
description
2006 nî lūn-bûn
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2006 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
SLC34A3 mutations in patients ...... ntaining phosphate homeostasis
@ast
SLC34A3 mutations in patients ...... ntaining phosphate homeostasis
@en
SLC34A3 mutations in patients ...... ntaining phosphate homeostasis
@nl
type
label
SLC34A3 mutations in patients ...... ntaining phosphate homeostasis
@ast
SLC34A3 mutations in patients ...... ntaining phosphate homeostasis
@en
SLC34A3 mutations in patients ...... ntaining phosphate homeostasis
@nl
prefLabel
SLC34A3 mutations in patients ...... ntaining phosphate homeostasis
@ast
SLC34A3 mutations in patients ...... ntaining phosphate homeostasis
@en
SLC34A3 mutations in patients ...... ntaining phosphate homeostasis
@nl
P2093
P2860
P921
P3181
P356
P1476
SLC34A3 mutations in patients ...... ntaining phosphate homeostasis
@en
P2093
Clemens Bergwitz
Danielle Frappier
Donald Anderson
Harald Juppner
Harriet S Tenenhouse
Hilal Abu-Zahra
Isabelle Sermet
Kelly Burkett
Martin Tieder
Michele Garabedian
P2860
P304
P3181
P356
10.1086/499409
P407
P577
2006-02-01T00:00:00Z