Evidence map›Paper›PMID 31024343›Full record

ArticleFrontiers in physiology2019

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway.

Ivan K Popov, Susan M Hiatt, Sandra Whalen, Boris Keren, Claudia Ruivenkamp, Arie van Haeringen, Mei-Jan Chen, Gregory M Cooper, Bruce R Korf, Chenbei Chang

Open access · goldAbstract read
In one paragraph

Article in Frontiers in physiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
1.4field-weighted citation impact, top 19% 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

22 citing papers in PubMed, 37 citations in OpenAlex.

  1. Clinical consensus guidelines for the management of Noonan syndrome in Japan.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026
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  5. TheFrontiers in medicine · 2025
    Review
  6. Review
  7. Review
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. The RASopathies: from pathogenetics to therapeutics.Disease models & mechanisms · 2022
    Review
  15. Article
  16. Article
  17. Review
  18. 14-3-3ζ: A suppressor of inflammatory arthritis.Proceedings of the National Academy of Sciences of the United States of America · 2021
    Article
  19. CardioZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2021
    Review
  20. 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

10 authors at 5 institutions in 3 countries.

Ivan K PopovDepartment of Cell, Developmental and Integrative Biology, The University of Alabama at Birmingham, Birmingham, AL, United States.
Susan M HiattHudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.
Sandra WhalenUF de Génétique Clinique, Hôpital Armand Trousseau, Assistance Publique Hôpitaux de Paris, Centre de Référence Maladies Rares des Anomalies du Développement et Syndromes Malformatifs, Paris, France.
Boris KerenUF de Génétique Clinique, Hôpital Armand Trousseau, Assistance Publique Hôpitaux de Paris, Centre de Référence Maladies Rares des Anomalies du Développement et Syndromes Malformatifs, Paris, France.
Claudia RuivenkampDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Arie van HaeringenDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Mei-Jan ChenDepartment of Genetics, The University of Alabama at Birmingham, Birmingham, AL, United States.
Gregory M CooperHudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.
Bruce R KorfDepartment of Genetics, The University of Alabama at Birmingham, Birmingham, AL, United States.
Chenbei ChangDepartment of Cell, Developmental and Integrative Biology, The University of Alabama at Birmingham, Birmingham, AL, United States.
University of Alabama at Birmingham · USHudsonAlpha Institute for Biotechnology · USLeiden University Medical Center · NLHôpital Armand-Trousseau · FRSorbonne Université · FR

Funding

XRAY CRYSTALLOGRAPHYP30CA013148 · NCI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI Robert S Welner · 1985 to 2026
$165.9M
Genomic Diagnosis in Children with Developmental DelayUM1HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI COOPER, GREGORY MICHAEL, MYERS, RICHARD M · 2013 to 2016
$7.5M
Connecting signaling with cytoskeleton: Abl and Arg in vertebrate gastrulationR01GM098566 · NIGMS · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI CHANG, CHENBEI · 2012 to 2015
$1.3M
NCI NIH HHS P30 CA013148NHGRI NIH HHS UM1 HG007301NIGMS NIH HHS R01 GM098566Wellcome Trust
6 · The paper itself

Abstract

Cardiofaciocutaneous (CFC) syndrome is a genetic disorder characterized by distinctive facial features, congenital heart defects, and skin abnormalities. Several germline gain-of-function mutations in the RAS/RAF/MEK/ERK pathway are associated with the disease, including

Indexed as

CFCErk activationRafRASopathyXenopusYWHAZ

Identifiers

PMID31024343
PMCPMC6465419
OpenAlexW2925228469

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.