Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. - Wikidata - awgldk - TriplyDB

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

http://www.wikidata.org/entity/Q35124270

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USP2-45 Is a Circadian Clock Output Effector Regulating Calcium Absorption at the Post-Translational Level Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia Genetic testing in steroid-resistant nephrotic syndrome: when and how?Response of Npt2a knockout mice to dietary calcium and phosphorus.Exploring the genetic basis of early-onset chronic kidney disease.The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers.[Stone treatment tomorrow and the day after].Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis Mutations in SLC26A1 Cause Nephrolithiasis Actualizing the Benefits of Genomic Discovery in Pediatric Nephrology.Urinary Stone Disease: Advancing Knowledge, Patient Care, and Population Health Analysis of altered microRNA expression profiles in the kidney tissues of ethylene glycol-induced hyperoxaluric rats How should patients with cystine stone disease be evaluated and treated in the twenty-first century?Tubular and genetic disorders associated with kidney stones.Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis.Evidence for epistatic interaction between VDR and SLC13A2 genes in the pathogenesis of hypocitraturia in recurrent calcium oxalate stone formers.Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency.Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole.The search for monogenic causes of kidney stones.Utility and limitations of animal models for the functional validation of human sequence variants.Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.PDE1A polymorphism contributes to the susceptibility of nephrolithiasis.Genomic medicine for kidney disease.Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.Refining Diagnostic Approaches in Nephrolithiasis: Incomplete Distal Renal Tubular Acidosis.A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.Personalized Intervention in Monogenic Stone Formers.Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany.Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.

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P2860

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

http://www.wikidata.org/entity/Q35124270

description

2014 nî lūn-bûn

@nan

2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2014年の論文

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2014年論文

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2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

@ast

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

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type

label

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

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Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

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prefLabel

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

@ast

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

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P1433

Journal of the American Society of Nephrology

P1476

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis

@en

P2093

Ann Marie Hynes

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Brittany Fisher

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Caleb P Nelson

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David T Thwaites

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Friedhelm Hildebrandt

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Jan Halbritter

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John A Sayer

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Jonathan D Porath

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Leslie Spaneas

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Michelle Baum

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P2860

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

NHERF1 mutations and responsiveness of renal parathyroid hormone

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

Kidney stones and the risk for chronic kidney disease

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene

Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes

Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria

Clinical and functional characterization of URAT1 variants

P304

543-551

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scholarly article

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10.1681/ASN.2014040388

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3

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26

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Daniela A Braun

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2014-10-08T00:00:00Z

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25296721

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4341487

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