Evidence map›Paper›PMID 26594343›Full record

ArticleF1000Research2015

Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles.

Simon Ramsbottom, Colin Miles, John Sayer

Open access · goldAbstract read
In one paragraph

Article in F1000Research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.6field-weighted citation impact, top 32% 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

8 citing papers in PubMed, 11 citations in OpenAlex.

  1. Atypical phenotype of a patient with Bardet-Biedl syndrome type 4.Molecular genetics & genomic medicine · 2022
    Article
  2. Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis.Frontiers in cell and developmental biology · 2021
    Review
  3. Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders.Clinical journal of the American Society of Nephrology : CJASN · 2020
    Review
  4. Review
  5. Primary cilia proteins: ciliary and extraciliary sites and functions.Cellular and molecular life sciences : CMLS · 2018
    Review
  6. Article
  7. Article
  8. 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

3 authors at 1 institution in 1 country.

Simon RamsbottomInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
Colin MilesInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
John SayerInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
Newcastle University · GB

Funding

Medical Research Council MR/M012212/1
6 · The paper itself

Abstract

The study of primary cilia is of broad interest both in terms of disease pathogenesis and the fundamental biological role of these structures. Murine models of ciliopathies provide valuable tools for the study of these diseases. However, it is important to consider the precise phenotype of murine models and how dependant it is upon genetic background. Here we compare and contrast murine models of Cep290, a frequent genetic cause of Joubert syndrome in order to refine our concept of genotype-phenotype correlations.

Indexed as

Cep290ciliacystic kidneyJoubert syndromemodifiernephronophthisis

Identifiers

PMID26594343
PMCPMC4648220
OpenAlexW2153076523

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.