标题
Genetics of kidney stone disease
作者
关键词
-
出版物
Nature Reviews Urology
Volume 17, Issue 7, Pages 407-421
出版商
Springer Science and Business Media LLC
发表日期
2020-06-13
DOI
10.1038/s41585-020-0332-x
参考文献
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。- NICE Guideline - Renal and ureteric stones: assessment and management
- (2019) BJU INTERNATIONAL
- Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population
- (2019) Chizu Tanikawa et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Genetic variants of calcium and vitamin D metabolism in kidney stone disease
- (2019) Sarah A. Howles et al. Nature Communications
- Familial risks in urolithiasis in the population of Sweden
- (2018) Kari Hemminki et al. BJU INTERNATIONAL
- Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations
- (2018) Nanyawan Rungroj et al. CLINICAL GENETICS
- Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial
- (2018) Vidar O. Edvardsson et al. European Journal of Internal Medicine
- HIPK2 polymorphisms rs2058265, rs6464214, and rs7456421 were associated with kidney stone disease in Chinese males not females
- (2018) Haisong Lin et al. GENE
- Common Variants in ALPL Gene Contribute to the Risk of Kidney Stones in the Han Chinese Population
- (2018) Xiaoming Li et al. Genetic Testing and Molecular Biomarkers
- Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias
- (2018) Caroline M Gorvin et al. HUMAN MOLECULAR GENETICS
- A rational approach to the use of sophisticated genetic analyses of pediatric stone disease
- (2018) Craig B. Langman KIDNEY INTERNATIONAL
- Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
- (2018) Ankana Daga et al. KIDNEY INTERNATIONAL
- Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations
- (2018) Marta Alonso-Varela et al. PEDIATRIC NEPHROLOGY
- Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations
- (2018) Marguerite Hureaux et al. PEDIATRIC NEPHROLOGY
- Uric acid stones, clinical manifestations and therapeutic considerations
- (2018) Qi Ma et al. POSTGRADUATE MEDICAL JOURNAL
- Incomplete Distal Renal Tubular Acidosis and Kidney Stones
- (2018) Daniel G. Fuster et al. ADVANCES IN CHRONIC KIDNEY DISEASE
- Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Answers
- (2018) Natasha Ng et al. PEDIATRIC NEPHROLOGY
- Sequence variants associating with urinary biomarkers
- (2018) Stefania Benonisdottir et al. HUMAN MOLECULAR GENETICS
- A variant in a cis -regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stones
- (2017) Megan E. Ure et al. HUMAN MUTATION
- The Risk of Chronic Kidney Disease Associated with Urolithiasis and its Urological Treatments: A Review
- (2017) Giovanni Gambaro et al. JOURNAL OF UROLOGY
- The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis
- (2017) Viviana Palazzo et al. KIDNEY INTERNATIONAL
- Mutations in SLC26A1 Cause Nephrolithiasis
- (2016) Heon Yung Gee et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Kidney Disease in Adenine Phosphoribosyltransferase Deficiency
- (2016) Hrafnhildur Linnet Runolfsdottir et al. AMERICAN JOURNAL OF KIDNEY DISEASES
- Trends in urological stone disease: a 5-year update of hospital episode statistics
- (2016) Hendrik Heers et al. BJU INTERNATIONAL
- Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis
- (2016) D. A. Braun et al. Clinical Journal of the American Society of Nephrology
- Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused byCLDN19gene mutations
- (2016) Paulo Marcio Yamaguti et al. JOURNAL OF MEDICAL GENETICS
- Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis
- (2016) Fadil M Hannan et al. JOURNAL OF MOLECULAR ENDOCRINOLOGY
- Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis
- (2016) John A. Sayer JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- In Silico Screening and Molecular Dynamic Study of Nonsynonymous Single Nucleotide Polymorphisms Associated with Kidney Stones in the SLC26A6 Gene
- (2016) Xiuli Lu et al. JOURNAL OF UROLOGY
- Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment
- (2016) Michael P. Whyte Nature Reviews Endocrinology
- Idiopathic hypercalciuria and formation of calcium renal stones
- (2016) Fredric L. Coe et al. Nature Reviews Nephrology
- Orphan drug policies and use in pediatric nephrology
- (2016) Diana Karpman et al. PEDIATRIC NEPHROLOGY
- CYP24A1Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait
- (2015) A. Molin et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers
- (2015) N. A. Dhayat et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria
- (2015) K. Hopp et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia
- (2015) K. P. Schlingmann et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- A Single Nucleotide Polymorphism (rs4236480) inTRPV5Calcium Channel Gene Is Associated with Stone Multiplicity in Calcium Nephrolithiasis Patients
- (2015) Anas Khaleel et al. MEDIATORS OF INFLAMMATION
- Common and rare variants associated with kidney stones and biochemical traits
- (2015) Asmundur Oddsson et al. Nature Communications
- Diet and risk of kidney stones in the Oxford cohort of the European Prospective Investigation into Cancer and Nutrition (EPIC)
- (2014) Benjamin W. Turney et al. EUROPEAN JOURNAL OF EPIDEMIOLOGY
- Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis
- (2014) J. Halbritter et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis
- (2014) D. Dasgupta et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Medical Management of Kidney Stones: AUA Guideline
- (2014) Margaret S. Pearle et al. JOURNAL OF UROLOGY
- Cystinuria—a urologist's perspective
- (2014) Kay Thomas et al. Nature Reviews Urology
- Salt and nephrolithiasis
- (2014) Andrea Ticinesi et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- The Cellular and Physiological Functions of the Lowe Syndrome Protein OCRL1
- (2014) Zenobia B. Mehta et al. TRAFFIC
- Hereditary Renal Hypouricemia: A New Role for Allopurinol?
- (2013) Bhavna Bhasin et al. AMERICAN JOURNAL OF MEDICINE
- A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient
- (2013) Yue Chi et al. BONE
- Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia
- (2013) M. Andrew Nesbit et al. NEW ENGLAND JOURNAL OF MEDICINE
- Hereditary causes of kidney stones and chronic kidney disease
- (2013) Vidar O. Edvardsson et al. PEDIATRIC NEPHROLOGY
- Frequency of Rare Allelic Variation in Candidate Genes among Individuals with Low and High Urinary Calcium Excretion
- (2013) Hakan R. Toka et al. PLoS One
- Peptides of Matrix Gla Protein Inhibit Nucleation and Growth of Hydroxyapatite and Calcium Oxalate Monohydrate Crystals
- (2013) Maria Goiko et al. PLoS One
- Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients
- (2013) C. M. Gorvin et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Update on Oxalate Crystal Disease
- (2013) Elizabeth C. Lorenz et al. Current Rheumatology Reports
- Vitamin D receptor gene (VDR) polymorphisms and the urolithiasis risk: an updated meta-analysis based on 20 case–control studies
- (2013) Wentao Liu et al. Urolithiasis
- Association between polymorphisms in osteopontin gene (SPP1) and first episode calcium oxalate urolithiasis
- (2013) Mohammad Reza Safarinejad et al. Urolithiasis
- Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family
- (2012) Vickie Braithwaite et al. BONE
- A Woman with Recurrent Calcium Phosphate Kidney Stones
- (2012) D. S. Goldfarb Clinical Journal of the American Society of Nephrology
- Prevalence of Kidney Stones in the United States
- (2012) Charles D. Scales et al. EUROPEAN UROLOGY
- A polymorphism of matrix Gla protein gene is associated with kidney stone in the Chinese Han population
- (2012) Xiuli Lu et al. GENE
- Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment
- (2012) P. Cochat et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- A Genome-Wide Association Study of Nephrolithiasis in the Japanese Population Identifies Novel Susceptible Loci at 5q35.3, 7p14.3, and 13q14.1
- (2012) Yuji Urabe et al. PLoS Genetics
- Primary Hyperoxaluria Type III Gene HOGA1 (Formerly DHDPSL) as a Possible Risk Factor for Idiopathic Calcium Oxalate Urolithiasis
- (2011) C. G. Monico et al. Clinical Journal of the American Society of Nephrology
- Mutations inCYP24A1and Idiopathic Infantile Hypercalcemia
- (2011) Karl P. Schlingmann et al. NEW ENGLAND JOURNAL OF MEDICINE
- Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects
- (2011) Hannsjörg W. Seyberth et al. PEDIATRIC NEPHROLOGY
- Structural and Biochemical Studies of Human 4-hydroxy-2-oxoglutarate Aldolase: Implications for Hydroxyproline Metabolism in Primary Hyperoxaluria
- (2011) Travis J. Riedel et al. PLoS One
- Clinical and Functional Characterization of URAT1 Variants
- (2011) Velibor Tasic et al. PLoS One
- Role of low native state kinetic stability and interaction of partially unfolded states with molecular chaperones in the mitochondrial protein mistargeting associated with primary hyperoxaluria
- (2010) Angel L. Pey et al. AMINO ACIDS
- The impact of osteopontin promoter polymorphisms on the risk of calcium urolithiasis
- (2010) Chia-Chu Liu et al. CLINICA CHIMICA ACTA
- Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2
- (2010) Jochen Reiss et al. HUMAN MUTATION
- From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes
- (2010) Haifa Hichri et al. HUMAN MUTATION
- Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in mice
- (2010) Paul A. Dawson et al. JOURNAL OF CLINICAL INVESTIGATION
- Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency
- (2010) G. Bollee et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Dent's disease
- (2010) Olivier Devuyst et al. Orphanet Journal of Rare Diseases
- A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency
- (2010) Radovan Bogdanović et al. PEDIATRIC NEPHROLOGY
- Correction: Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases
- (2010) Daniel F. Gudbjartsson et al. PLoS Genetics
- Diet, Fluid, or Supplements for Secondary Prevention of Nephrolithiasis: A Systematic Review and Meta-Analysis of Randomized Trials
- (2009) Howard A. Fink et al. EUROPEAN UROLOGY
- Homozygous SLC2A9 Mutations Cause Severe Renal Hypouricemia
- (2009) D. Dinour et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density
- (2009) Gudmar Thorleifsson et al. NATURE GENETICS
- TRPV5 gene polymorphisms in renal hypercalciuria
- (2009) K. Y. Renkema et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium
- (2009) J. Hou et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mutations in Glucose Transporter 9 Gene SLC2A9 Cause Renal Hypouricemia
- (2008) Hirotaka Matsuo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Effect of Hydrochlorothiazide on Urinary Calcium Excretion in Dent Disease: An Uncontrolled Trial
- (2008) Anne Blanchard et al. AMERICAN JOURNAL OF KIDNEY DISEASES
- Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction
- (2008) D. Bockenhauer et al. Clinical Journal of the American Society of Nephrology
- Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation
- (2008) Yoshiro Suzuki et al. HUMAN MOLECULAR GENETICS
- In This Issue
- (2008) JOURNAL OF CLINICAL INVESTIGATION
- Disease-Causing Dysfunctions of Barttin in Bartter Syndrome Type IV
- (2008) A. G.H. Janssen et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- NHERF1Mutations and Responsiveness of Renal Parathyroid Hormone
- (2008) Zoubida Karim et al. NEW ENGLAND JOURNAL OF MEDICINE
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started