Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.
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SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasisNH3 is involved in the NH4+ transport induced by the functional expression of the human Rh C glycoproteinA new human NHERF1 mutation decreases renal phosphate transporter NPT2a expression by a PTH-independent mechanismHereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.New loci associated with kidney function and chronic kidney diseaseMutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasisRare causes of osteoporosisGenetic disorders of phosphate regulationAutosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile HypercalcemiaThe autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potencyRecent advances in the renal-skeletal-gut axis that controls phosphate homeostasisSlc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intoleranceLongitudinal study of urinary excretion of phosphate, calcium, and uric acid in mutant NHERF-1 null miceA genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1Response of Npt2a knockout mice to dietary calcium and phosphorus.Metabolic evaluation of first-time and recurrent stone formers.The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment.Phosphaturia as a promising predictor of recurrent stone formation in patients with urolithiasisThe population genetics of chronic kidney disease: insights from the MYH9-APOL1 locus.The changing face of hypophosphatemic disorders in the FGF-23 eraFunctional interaction between CFTR and the sodium-phosphate co-transport type 2a in Xenopus laevis oocytesExome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosisExploring the genetic basis of early-onset chronic kidney disease.Recent advances in renal phosphate handling.Interstitial calcinosis in renal papillae of genetically engineered mouse models: relation to Randall's plaquesNephrolithiasis-associated bone disease: pathogenesis and treatment options.(Patho)physiological implications of the novel epithelial Ca2+ channels TRPV5 and TRPV6.Clinical characteristics of potential kidney donors with asymptomatic kidney stonesCommon genetic variants associate with serum phosphorus concentration.Phosphatonins: new hormones involved in numerous inherited bone disordersVascular Calcification and Stone Disease: A New Look towards the Mechanism.Bone disease in primary hypercalciuria.Recent advances in renal phosphate transport.CYP24 inhibition as a therapeutic target in FGF23-mediated renal phosphate wasting disordersNew insights into the pathogenesis of idiopathic hypercalciuria.Genetic basis of renal cellular dysfunction and the formation of kidney stones.Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or NephrocalcinosisEvidence for altered renal tubule function in idiopathic calcium stone formers.A missense mutation in the sodium phosphate co-transporter Slc34a1 impairs phosphate homeostasis.Hereditary hypophosphatemias: new genes in the bone-kidney axis.
P2860
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P2860
Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Nephrolithiasis and osteoporos ...... odium-phosphate cotransporter.
@en
Nephrolithiasis and osteoporos ...... odium-phosphate cotransporter.
@nl
type
label
Nephrolithiasis and osteoporos ...... odium-phosphate cotransporter.
@en
Nephrolithiasis and osteoporos ...... odium-phosphate cotransporter.
@nl
prefLabel
Nephrolithiasis and osteoporos ...... odium-phosphate cotransporter.
@en
Nephrolithiasis and osteoporos ...... odium-phosphate cotransporter.
@nl
P2093
P356
P1476
Nephrolithiasis and osteoporos ...... odium-phosphate cotransporter.
@en
P2093
Bernard Grandchamp
Bénédicte Gérard
Caroline Silve
Dominique Prié
François Benqué-Blanchet
Gabrielle Planelles
Naziha Bakouh
Olivier Dellis
Philippe Hulin
Virginie Huart
P304
P356
10.1056/NEJMOA020028
P407
P577
2002-09-01T00:00:00Z