Evidence map›Paper›PMID 33003365›Full record

ArticleGenes2020

Deleterious

Anna Letko, Reinie Dijkman, Ben Strugnell, Irene M Häfliger, Julia M Paris, Katrina Henderson, Tim Geraghty, Hannah Orr, Sandra Scholes, Cord Drögemüller

Open access · goldAbstract read
In one paragraph

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.4field-weighted citation impact, top 33% 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

4 citing papers in PubMed, 3 citations in OpenAlex.

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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

10 authors at 4 institutions in 3 countries.

Anna LetkoInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.ORCID 0000-0002-6521-1285
Reinie DijkmanRoyal GD, Postbus 9, 7400 AA Deventer, The Netherlands.ORCID 0000-0002-1957-3664
Ben StrugnellFarm Post Mortems Ltd., Hamsterley, Bishop Auckland, County Durham DL13 3QF, UK.
Irene M HäfligerInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.
Julia M ParisInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.
Katrina HendersonSRUC Consulting Veterinary Services, Pentlands Science Park, Bush Estate Loan, Penicuik, Midlothian EH26 0PZ, UK.
Tim GeraghtySRUC Consulting Veterinary Services, Pentlands Science Park, Bush Estate Loan, Penicuik, Midlothian EH26 0PZ, UK.
Hannah OrrSRUC Consulting Veterinary Services, Pentlands Science Park, Bush Estate Loan, Penicuik, Midlothian EH26 0PZ, UK.
Sandra ScholesSRUC Consulting Veterinary Services, Pentlands Science Park, Bush Estate Loan, Penicuik, Midlothian EH26 0PZ, UK.ORCID 0000-0003-3422-5956
Cord DrögemüllerInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.ORCID 0000-0001-9773-522X
Scotland's Rural College · GBUniversity of Bern · CHBishop Auckland Hospital · GBRoyal GD (Netherlands) · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Severe oxalate nephropathy has been previously reported in sheep and is mostly associated with excessive oxalate in the diet. However, a rare native Dutch breed (Zwartbles) seems to be predisposed to an inherited juvenile form of primary hyperoxaluria and no causative genetic variant has been described so far. This study aims to characterize the phenotype and genetic etiology of the inherited metabolic disease observed in several purebred Zwartbles sheep. Affected animals present with a wide range of clinical signs including condition loss, inappetence, malaise, and, occasionally, respiratory signs, as well as an apparent sudden unexpected death. Histopathology revealed widespread oxalate crystal deposition in kidneys of the cases. Whole-genome sequencing of two affected sheep identified a missense variant in the ovine

Indexed as

Mutation, MissenseAnimalsAnimals, NewbornGenetic TestingHyperoxaluria, PrimarySheepTransaminasesAlanine-glyoxylate transaminaseTransaminasesgenetic testmetabolic diseaseOvis ariesoxalate nephropathyprecision medicinewhole-genome sequencing

Identifiers

PMID33003365
PMCPMC7600965
OpenAlexW3090323624

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.