Evidence map›Paper›PMID 25352100›Full record

ArticleNature genetics2014

Cohesin embraces new phenotypes.

Ian D Krantz

Abstract readComment
In one paragraph

Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.4field-weighted citation impact, top 36% 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

6 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Role of the DDX11 DNA Helicase in Warsaw Breakage Syndrome Etiology.International journal of molecular sciences · 2021
    Review
  3. Article
  4. Spotlight on Warsaw Breakage Syndrome.The application of clinical genetics · 2019
    Review
  5. Review
  6. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

1 author at 1 institution in 1 country.

Ian D KrantzDivision of Human Molecular Genetics, The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Children's Hospital of Philadelphia · US

Funding

VERTEBRATE ANIMAL MODELS OF CORNELIA DE LANGE SYNDROMEP01HD052860 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI KRANTZ, IAN D. · 2006 to 2015
$11.2M
NICHD NIH HHS P01 HD052860
6 · The paper itself

Abstract

A new study identifies homozygous missense mutations in SGOL1, which encodes a component of the cohesin complex, in a newly described disorder termed Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome. These findings implicate cohesin in the regulation of intrinsic cardiac and intestinal rhythm and further expand the growing group of disorders termed the cohesinopathies.

Indexed as

Abnormalities, MultipleAnimalsArrhythmias, CardiacCell Cycle ProteinsChromosomal Proteins, Non-HistoneCohesinsHumansIntestinal DiseasesMuscle ContractionSignal TransductionCell Cycle ProteinsChromosomal Proteins, Non-HistoneCohesinsSGO1 protein, human

Identifiers

PMID25352100
PMCPMC4268132
OpenAlexW2049723344

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.