Evidence map›Paper›PMID 32886384›Full record

ArticleThe Laryngoscope2021

Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice.

Austin S Lam, Carrie C Liu, Gail H Deutsch, Joshua Rivera, Jonathan A Perkins, Greg Holmes, Ethylin W Jabs, Michael L Cunningham, John P Dahl

Registry-linked trialOpen access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Laryngoscope, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03025763 (Craniosynostosis Network), which is not on this map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.3field-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.

NCT03025763 active not recruitingnot on this map

Craniosynostosis Network

TypeobservationalSponsorIcahn School of Medicine at Mount SinaiRan2015 to 2028Enrolled2,145ConditionsCraniosynostosisArmsCraniosynostosis Network Environmental Survey, 2D/3D Photography, Buccal Swab Cell Sampling, Blood sampling, Skin Biopsy
3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. 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

9 authors at 4 institutions in 3 countries.

Austin S LamDepartment of Otolaryngology - Head & Neck Surgery, University of Washington School of Medicine, Seattle, Washington, U.S.A.ORCID 0000-0002-2297-6376
Carrie C LiuDepartment of Otolaryngology - Head & Neck Surgery, University of Washington School of Medicine, Seattle, Washington, U.S.A.ORCID 0000-0002-9262-2792
Gail H DeutschDepartment of Pathology, University of Washington School of Medicine, Seattle, Washington, U.S.A.
Joshua RiveraDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, U.S.A.
Jonathan A PerkinsDepartment of Otolaryngology - Head & Neck Surgery, University of Washington School of Medicine, Seattle, Washington, U.S.A.ORCID 0000-0003-0181-3997
Greg HolmesDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, U.S.A.
Ethylin W JabsDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, U.S.A.
Michael L CunninghamSeattle Children's Research Institute, Center for Developmental Biology and Regenerative Medicine, Seattle, Washington, U.S.A.
John P DahlDepartment of Otolaryngology - Head & Neck Surgery, University of Washington School of Medicine, Seattle, Washington, U.S.A.
University of Washington · USIcahn School of Medicine at Mount Sinai · USCenter for Personalized Cancer Treatment · NLUniversity of Calgary · CA

Funding

Mechanisms of Brain Dysmorphology in MN1 C-Terminal Truncation Syndrome, a Novel Intellectual Developmental Disability Disorder P50HD103524 · NICHD · UNIVERSITY OF WASHINGTON · PI DANIEL DOHERTY · 2020 to 2026
$9.9M
Research Training in OtolaryngologyT32DC000018 · NIDCD · UNIVERSITY OF WASHINGTON · PI STONE, JENNIFER S. · 1989 to 2023
$7.8M
Project III: Systems Biology of Bone in Coronal Nonsyndromic CraniosynostosisP01HD078233 · NICHD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI DREW, PATRICK JAMES, JABS, ETHYLIN WANG · 2014 to 2019
$7.0M
Midface and Upper Airway in CraniosynostosisR01DE022988 · NIDCR · PENNSYLVANIA STATE UNIVERSITY, THE · PI JABS, ETHYLIN WANG, RICHTSMEIER, JOAN THERESE · 2012 to 2016
$3.1M
NICHD NIH HHS P01 HD078233NICHD NIH HHS P50 HD103524NIDCD NIH HHS T32 DC000018NIDCR NIH HHS R01 DE022988
6 · The paper itself

Abstract

objectivesTo characterize tracheal cartilage morphology in mouse models of fibroblast growth factor receptor (Fgfr2)-related craniosynostosis syndromes. To establish relationships between specific Fgfr2 mutations and tracheal cartilaginous sleeve (TCS) phenotypes in these mouse models.

methodsPostnatal day 0 knock-in mouse lines with disease-specific genetic variations in the Fgfr2 gene (Fgfr2

resultsA greater proportion of rings per trachea were abnormal in Fgfr2

conclusionThis study found TCS phenotypes only in the Fgfr2 LEVEL OF EVIDENCE: NA Laryngoscope, 131:E1349-E1356, 2021.

Indexed as

Acanthosis NigricansAcrocephalosyndactyliaAnimalsCartilageCraniofacial DysostosisCraniosynostosesDisease Models, AnimalEarGenetic Association StudiesHumansMiceMutationPhenotypeReceptor, Fibroblast Growth Factor, Type 2Scalp DermatosesSkin AbnormalitiesFgfr2 protein, mouseReceptor, Fibroblast Growth Factor, Type 2Apert syndromeBeare-Stevenson syndromecraniosynostosisCrouzon syndromeFGFR2tracheal anomaliestracheal cartilaginous sleeve

Identifiers

PMID32886384
PMCPMC7930142
OpenAlexW3083565313

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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.