(Q37004961)

17 August 2017

Mutations in SLC26A1 Cause Nephrolithiasis (English)

1 reference

17 August 2017

Ari J Wassner

10

0 references

Daniela A Braun

Daniela A Braun

3

0 references

Min Goo Lee

Min Goo Lee

17

0 references

John A. Sayer

John A Sayer

13

0 references

Ikhyun Jun

Ikhyun Jun

2

0 references

Heon Yung Gee

Heon Yung Gee

1

0 references

author name string

Jennifer A Lawson

4

1 reference

17 August 2017

Jan Halbritter

5

1 reference

17 August 2017

Shirlee Shril

6

1 reference

17 August 2017

Caleb P Nelson

7

1 reference

17 August 2017

Weizhen Tan

8

1 reference

17 August 2017

Deborah Stein

9

1 reference

17 August 2017

Michael A Ferguson

11

1 reference

17 August 2017

Zoran Gucev

12

1 reference

17 August 2017

Danko Milosevic

14

1 reference

17 August 2017

Michelle Baum

15

1 reference

17 August 2017

Velibor Tasic

16

1 reference

17 August 2017

Friedhelm Hildebrandt

18

1 reference

17 August 2017

language of work or name

English

0 references

publication date

18 May 2016

1 reference

American Journal of Human Genetics

17 August 2017

1 reference

17 August 2017

98

1 reference

17 August 2017

6

1 reference

17 August 2017

1228-1234

1 reference

Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

Hereditary causes of kidney stones and chronic kidney disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

Temporal trends in incidence of kidney stones among children: a 25-year population based study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

Prevalence of kidney stones in the United States

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

Slc13a1 and Slc26a1 KO models reveal physiological roles of anion transporters

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

Dynamic regulation of CFTR bicarbonate permeability by [Cl-]i and its role in pancreatic bicarbonate secretion

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

Economics and cost of care of stone disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

Localization of the sulfate/anion exchanger in the rat liver

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

The mouse sulfate anion transporter gene Sat1 (Slc26a1): cloning, tissue distribution, gene structure, functional characterization, and transcriptional regulation thyroid hormone

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

Molecular characterization of the murine Slc26a6 anion exchanger: functional comparison with Slc26a1

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

Immunolocalization of sat-1 sulfate/oxalate/bicarbonate anion exchanger in the rat kidney

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

Functional expression cloning of the canalicular sulfate transport system of rat hepatocytes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

Human SLC26A1 gene variants: a pilot study.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

Ability of sat-1 to transport sulfate, bicarbonate, or oxalate under physiological conditions

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

A twin study of genetic and dietary influences on nephrolithiasis: a report from the Vietnam Era Twin (VET) Registry

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

Genetic contribution to renal function and electrolyte balance: a twin study

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908148

The genetics of nephrolithiasis

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27210743

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2016.03.026

1 reference

release_diugczy6k5gtfdzytht47onvgm

17 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/diugczy6k5gtfdzytht47onvgm

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

17 August 2017

1 reference