Evidence map›Paper›PMID 30395686›Full record

ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2019

An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.

Caroline M Gorvin, Bushra N Ahmad, Michael J Stechman, Nellie Y Loh, Tertius A Hough, Paul Leo, Mhairi Marshall, Siddharth Sethi, Liz Bentley, Sian E Piret and 12 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.5field-weighted citation impact, top 29% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Review
  3. Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors at 6 institutions in 3 countries.

Caroline M GorvinAcademic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Bushra N AhmadAcademic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Michael J StechmanAcademic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Nellie Y LohAcademic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Tertius A HoughMary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, UK.
Paul LeoTranslational Genomics Group, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology at Translational Research Institute, Brisbane, Australia.
Mhairi MarshallTranslational Genomics Group, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology at Translational Research Institute, Brisbane, Australia.
Siddharth SethiMary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, UK.
Liz BentleyMary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, UK.
Sian E PiretAcademic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Anita ReedAcademic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Jeshmi JeyabalanAcademic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Paul T ChristieAcademic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Sara WellsMary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, UK.
Michelle M SimonMary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, UK.
Ann-Marie MallonMary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, UK.
Herbert SchulzMax-Delbrück-Center for Molecular Medicine, Berlin, Germany.
Norbert HuebnerMax-Delbrück-Center for Molecular Medicine, Berlin, Germany.
Matthew A BrownTranslational Genomics Group, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology at Translational Research Institute, Brisbane, Australia.
Roger D CoxMary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, UK.
Steve D BrownMary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, UK.
Rajesh V ThakkerAcademic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
University of Oxford · GBMary Lyon Centre at MRC Harwell · GBMedical Research Council · GBOxford Centre for Diabetes, Endocrinology and Metabolism · GBTranslational Research Institute · AUMax Delbrück Center · DE

Funding

Medical Research Council G0600702Medical Research Council G1000467Medical Research Council G9825289Medical Research Council MC_U142661184Medical Research Council MC_U142684171Medical Research Council MC_UP_1502/1Wellcome Trust
6 · The paper itself

Abstract

Renal calcification (RCALC) resulting in nephrolithiasis and nephrocalcinosis, which affects ∼10% of adults by 70 years of age, involves environmental and genetic etiologies. Thus, nephrolithiasis and nephrocalcinosis occurs as an inherited disorder in ∼65% of patients, and may be associated with endocrine and metabolic disorders including: primary hyperparathyroidism, hypercalciuria, renal tubular acidosis, cystinuria, and hyperoxaluria. Investigations of families with nephrolithiasis and nephrocalcinosis have identified some causative genes, but further progress is limited as large families are unavailable for genetic studies. We therefore embarked on establishing mouse models for hereditary nephrolithiasis and nephrocalcinosis by performing abdominal X-rays to identify renal opacities in N-ethyl-N-nitrosourea (ENU)-mutagenized mice. This identified a mouse with RCALC inherited as an autosomal dominant trait, designated RCALC type 2 (RCALC2). Genomewide mapping located the Rcalc2 locus to a ∼16-Mbp region on chromosome 11D-E2 and whole-exome sequence analysis identified a heterozygous mutation in the DNA polymerase gamma-2, accessory subunit (Polg2) resulting in a nonsense mutation, Tyr265Stop (Y265X), which co-segregated with RCALC2. Kidneys of mutant mice (Polg2

Indexed as

CalcinosisCodon, TerminatorDNA Polymerase gammaKidneyKidney DiseasesAnimalsEthylnitrosoureaMiceMice, Mutant StrainsCodon, TerminatorDNA Polymerase gammaEthylnitrosoureaPolg protein, mouseAGINGANIMAL MODELSCELL/TISSUE SIGNALINGDISORDERS OF CALCIUM/PHOSPHATE METABOLISMENDOCRINE PATHWAYSGENETIC ANIMAL MODELSOTHER

Identifiers

PMID30395686
PMCPMC6446808
OpenAlexW2899949166

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.