A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
about
Genetic disorders of phosphate regulationAutosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile HypercalcemiaResponse of Npt2a knockout mice to dietary calcium and phosphorus.A physiologic-based approach to the evaluation of a patient with hyperphosphatemiaHigh-resolution identity by descent mapping uncovers the genetic basis for blood pressure differences between spontaneously hypertensive rat linesThe population genetics of chronic kidney disease: insights from the MYH9-APOL1 locus.PhenomeNET: a whole-phenome approach to disease gene discovery.The changing face of hypophosphatemic disorders in the FGF-23 eraMutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.Shank2 redistributes with NaPilla during regulated endocytosisExome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosisTubular transport: core curriculum 2010.Approach to the hypophosphatemic patientThe Envy of Scholars: Applying the Lessons of the Framingham Heart Study to the Prevention of Chronic Kidney DiseaseFanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.Proximal renal tubular acidosis: a not so rare disorder of multiple etiologiesPrevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or NephrocalcinosisInsights from genetic disorders of phosphate homeostasisOncogenic osteomalacia, raised FGF-23, and renal Fanconi syndrome.FGF23 and syndromes of abnormal renal phosphate handlingStructural fold and binding sites of the human Na⁺-phosphate cotransporter NaPi-IISwitch in FGFR3 and -4 expression profile during human renal development may account for transient hypercalcemia in patients with Sotos syndrome due to 5q35 microdeletions.Phosphate homeostasis and the renal-gastrointestinal axis.The expanding family of hypophosphatemic syndromes.FGF23 associated bone diseases.Hypophosphatemic rickets due to perturbations in renal tubular function.The SLC34 family of sodium-dependent phosphate transporters.Inherited disorders of calcium and phosphate metabolism.Renal handling of phosphate and sulfate.Genetic diseases of renal phosphate handling.Renal Fanconi syndrome: taking a proximal look at the nephron.Regulation of renal phosphate handling: inter-organ communication in health and disease.DENTAL ENAMEL FORMATION AND IMPLICATIONS FOR ORAL HEALTH AND DISEASE.Genetic, pathophysiological, and clinical aspects of nephrocalcinosis.Tubular and genetic disorders associated with kidney stones.MicroRNA profiling in lymphocytes and serum of tyrosinemia type-I patients.Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency.Oncogenic osteomalacia illustrating the effect of fibroblast growth factor 23 on phosphate homeostasis.Intraperitoneal pyrophosphate treatment reduces renal calcifications in Npt2a null mice.Impaired urinary osteopontin excretion in Npt2a-/- mice.
P2860
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P2860
A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
description
2010 nî lūn-bûn
@nan
2010 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մարտին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
@ast
A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
@en
A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
@nl
type
label
A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
@ast
A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
@en
A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
@nl
prefLabel
A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
@ast
A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
@en
A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
@nl
P2093
P356
P1476
A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
@en
P2093
Anat Ilivitzki
Daniela Militianu
Daniella Magen
Israel Zelikovic
Jean Yves Lapointe
Karl Skorecki
Liron Berger
Martin Tieder
Michael J Coady
Sara Selig
P304
P356
10.1056/NEJMOA0905647
P407
P577
2010-03-01T00:00:00Z