相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
Ankana Daga et al.
KIDNEY INTERNATIONAL (2018)
Renal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the Nephron
Camille Ansermet et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2017)
Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases
Ewa Pronicka et al.
JOURNAL OF APPLIED GENETICS (2017)
Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease
Korcan Demir et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2017)
The intestinal phosphate transporter NaPi-IIb (Slc34a2) is required to protect bone during dietary phosphate restriction
Thomas Knopfel et al.
SCIENTIFIC REPORTS (2017)
Heritable and acquired disorders of phosphate metabolism: Etiologies involving FGF23 and current therapeutics
Erica L. Clinkenbeard et al.
BONE (2017)
Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications
Silje Rafaelsen et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2016)
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia
Karl P. Schlingmann et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2016)
Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity
Anubha Mahajan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis
Daniela Anne Braun et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2016)
XPR1 mutations are a rare cause of primary familial brain calcification
Mathieu Anheim et al.
JOURNAL OF NEUROLOGY (2016)
Idiopathic hypercalciuria and formation of calcium renal stones
Fredric L. Coe et al.
NATURE REVIEWS NEPHROLOGY (2016)
Crystallopathies
Shrikant R. Mulay et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency
Dganit Dinour et al.
PEDIATRIC NEPHROLOGY (2016)
Control of eukaryotic phosphate homeostasis by inositol polyphosphate sensor domains
Rebekka Wild et al.
SCIENCE (2016)
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
Cristian Pattaro et al.
NATURE COMMUNICATIONS (2016)
Genetic, pathophysiological, and clinical aspects of nephrocalcinosis
Ben Oliveira et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2016)
Intestinal Depletion of NaPi-IIb/Slc34a2 in Mice: Renal and Hormonal Adaptation
Nati Hernando et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2015)
What is nephrocalcinosis?
Linda Shavit et al.
KIDNEY INTERNATIONAL (2015)
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Andrea Legati et al.
NATURE GENETICS (2015)
Common and rare variants associated with kidney stones and biochemical traits
Asmundur Oddsson et al.
NATURE COMMUNICATIONS (2015)
Renal Control of Calcium, Phosphate, and Magnesium Homeostasis
Judith Blaine et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2015)
Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis
Jan Halbritter et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2015)
Functional Genomic Annotation of Genetic Risk Loci Highlights Inflammation and Epithelial Biology Networks in CKD
Nora Ledo et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2015)
High dietary phosphorus intake is associated with all-cause mortality: results from NHANES III
Alex R. Chang et al.
AMERICAN JOURNAL OF CLINICAL NUTRITION (2014)
Structural Fold and Binding Sites of the Human Na+-Phosphate Cotransporter NaPi-II
Cristina Fenollar-Ferrer et al.
BIOPHYSICAL JOURNAL (2014)
Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria
Shoji Ichikawa et al.
BONE (2014)
A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient
Yue Chi et al.
BONE (2014)
Expression of the mammalian Xenotropic Polytropic Virus Receptor 1 (XPR1) in tobacco leaves leads to phosphate export
Stefanie Wege et al.
FEBS LETTERS (2014)
Association between Compound Heterozygous Mutations of SLC34A3 and Hypercalciuria
Yuki Abe et al.
HORMONE RESEARCH IN PAEDIATRICS (2014)
Exome Sequencing Identifies a Novel Homozygous Mutation in the Phosphate Transporter SLC34A1 in Hypophosphatemia and Nephrocalcinosis
Abbhirami Rajagopal et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis
Debayan Dasgupta et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2014)
Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights
Fabrice Mihout et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2014)
Genetic diseases of renal phosphate handling
Carsten A. Wagner et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2014)
The SLC34 family of sodium-dependent phosphate transporters
Carsten A. Wagner et al.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2014)
Renal-specific and inducible depletion of NaPi-IIc/Slc34a3, the cotransporter mutated in HHRH, does not affect phosphate or calcium homeostasis in mice
Komuraiah Myakala et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2014)
Public health impact of dietary phosphorus excess on bone and cardiovascular health in the general population
Mona S. Calvo et al.
AMERICAN JOURNAL OF CLINICAL NUTRITION (2013)
Phosphate Transporters and Their Function
Juerg Biber et al.
ANNUAL REVIEW OF PHYSIOLOGY, VOL 75 (2013)
Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family
Vickie Braithwaite et al.
BONE (2013)
A Patient with Hypophosphatemia, a Femoral Fracture, and Recurrent Kidney Stones: Report of a Novel Mutation inSLC34A3
Kathleen Page et al.
Endocrine Practice (2013)
A replication study for three nephrolithiasis loci at 5q35.3, 7p14.3 and 13q14.1 in the Japanese population
Takahiro Yasui et al.
JOURNAL OF HUMAN GENETICS (2013)
Phosphate transporters of the SLC20 and SLC34 families
Ian C. Forster et al.
MOLECULAR ASPECTS OF MEDICINE (2013)
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Sandy Chan Hsu et al.
NEUROGENETICS (2013)
Pulmonary alveolar microlithiasis. State-of-the-art review
Flavia Angelica Ferreira Francisco et al.
RESPIRATORY MEDICINE (2013)
Inorganic Phosphate Export by the Retrovirus Receptor XPR1 in Metazoans
Donatella Giovannini et al.
CELL REPORTS (2013)
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria
Sakiko Haito-Sugino et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2012)
Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred
Y. Yu et al.
BONE (2012)
Fanconi-Bickel Syndrome and Autosomal Recessive Proximal Tubulopathy with Hypercalciuria (ARPTH) Are Allelic Variants Caused by GLUT2 Mutations
Michael Mannstadt et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
Cheng Wang et al.
NATURE GENETICS (2012)
Genetic determinants of urolithiasis
Carla G. Monico et al.
NATURE REVIEWS NEPHROLOGY (2012)
A New Human NHERF1 Mutation Decreases Renal Phosphate Transporter NPT2a Expression by a PTH-Independent Mechanism
Marie Courbebaisse et al.
PLOS ONE (2012)
A Genome-Wide Association Study of Nephrolithiasis in the Japanese Population Identifies Novel Susceptible Loci at 5q35.3, 7p14.3, and 13q14.1
Yuji Urabe et al.
PLOS GENETICS (2012)
Hereditary Hypophosphatemic Rickets With Hypercalciuria and Nephrolithiasis-Identification of a Novel SLC34A3/NaPi-IIc Mutation
Priya Phulwani et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome
Joanna Kenny et al.
PEDIATRIC NEPHROLOGY (2011)
Common Genetic Variants Associate with Serum Phosphorus Concentration
Bryan Kestenbaum et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2010)
New loci associated with kidney function and chronic kidney disease
Anna Koettgen et al.
NATURE GENETICS (2010)
BRIEF REPORT A Loss-of-Function Mutation in NaPi-IIa and Renal Fanconi's Syndrome
Daniella Magen et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report
Natalia Mejia-Gaviria et al.
ORPHANET JOURNAL OF RARE DISEASES (2010)
Dent's disease
Olivier Devuyst et al.
ORPHANET JOURNAL OF RARE DISEASES (2010)
Acute parathyroid hormone differentially regulates renal brush border membrane phosphate cotransporters
Nicolas Picard et al.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2010)
Hypophosphatemic Rickets with Hypercalciuria due to Mutation in SLC34A3/Type IIc Sodium-Phosphate Cotransporter: Presentation as Hypercalciuria and Nephrolithiasis
Amanda L. Tencza et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
Intestinal Npt2b Plays a Major Role in Phosphate Absorption and Homeostasis
Yves Sabbagh et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2009)
Type IIc Sodium-Dependent Phosphate Transporter Regulates Calcium Metabolism
Hiroko Segawa et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2009)
Multiple loci associated with indices of renal function and chronic kidney disease
Anna Koettgen et al.
NATURE GENETICS (2009)
The Na+-Pi cotransporter PiT-2 (SLC20A2) is expressed in the apical membrane of rat renal proximal tubules and regulated by dietary Pi
Ricardo Villa-Bellosta et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2009)
Tissue-specific mRNA expression profiles of human solute carrier transporter superfamilies
Masuhiro Nishimura et al.
DRUG METABOLISM AND PHARMACOKINETICS (2008)
Monitoring protein-protein interactions between the mammalian integral membrane transporters and PDZ-interacting partners using a modified split-ubiquitin membrane yeast two-hybrid system
Serge M. Gisler et al.
MOLECULAR & CELLULAR PROTEOMICS (2008)
NHERF1 mutations and responsiveness of renal parathyroid hormone
Zoubida Karim et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Calcium oxalate crystal deposition in kidneys of hypercalciuric mice with disrupted type IIa sodium-phosphate cotransporter
Saeed R. Khan et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2008)
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
Graciana Jaureguiberry et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2008)
Relations of serum phosphorus and calcium levels to the incidence of cardiovascular disease in the community
Ravi Dhingra et al.
ARCHIVES OF INTERNAL MEDICINE (2007)
Defective coupling of apical PTH receptors to phospholipase C prevents internalization of the Na+-phosphate cotransporter NaPi-IIa in Nherf1-deficient mice
Paola Capuano et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2007)
Intronic deletions in the SLC34A3 gene cause hereditary Hypophosphatemic rickets with hypercalciuria
Shoji Ichikawa et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)
Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis
Ayse Corut et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
NPT2a gene variation in calcium nephrolithiasis with renal phosphate leak
J. -Y. Lapointe et al.
KIDNEY INTERNATIONAL (2006)
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
C Bergwitz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3
B Lorenz-Depiereux et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
The role of NHERF-1 in the regulation of renal proximal tubule sodium-hydrogen exchanger 3 and sodium-dependent phosphate cotransporter 2a
EJ Weinman et al.
JOURNAL OF PHYSIOLOGY-LONDON (2005)
Regulation of intestinal phosphate transport -: I.: Segmental expression and adaptation to low-Pi diet of the type IIb Na+-Pi cotransporter in mouse small intestine
T Radanovic et al.
AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY (2005)
Intestinal and renal adaptation to a low-Pi diet of type IINaPi cotransporters in vitamin D receptor- and 1αOHase-deficient mice
P Capuano et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2005)
1α-Hydroxylase gene ablation and Pi supplementation inhibit renal calcification in mice homozygous for the disrupted Npt2a gene
HS Tenenhouse et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2004)
Role of NHERF-1 in regulation of the activity of Na-K ATPase and sodium-phosphate co-transport in epithelial cells
ED Lederer et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2003)
Renal calcification in mice homozygous for the disrupted type IIa Na/Pi cotransporter gene Npt2
H Chau et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2003)
Na+/H+ exchanger-regulatory factor 1 mediates inhibition of phosphate transport by parathyroid hormone and second messengers by acting at multiple sites in opossum kidney cells
MJ Mahon et al.
MOLECULAR ENDOCRINOLOGY (2003)
Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa
LV Virkki et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2003)
Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.
D Prié et al.
NEW ENGLAND JOURNAL OF MEDICINE (2002)
PDZ-domain interactions and apical expression of type IIa Na/Pi cotransporters
N Hernando et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Targeted disruption of the mouse NHERF-1 gene promotes internalization of proximal tubule sodium-phosphate cotransporter type IIa and renal phosphate wasting
S Shenolikar et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Na+/H+ exchanger regulatory factor 2 directs parathyroid hormone 1 receptor signalling
MJ Mahon et al.
NATURE (2002)
Interaction of the type IIa Na/Pi cotransporter with PDZ proteins
SM Gisler et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
The functional unit of the renal type IIa Na+/Pi cotransporter is a monomer
K Köhler et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)