Evidence map›Paper›PMID 36104176›Full record

ArticleInternal medicine (Tokyo, Japan)2022

A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia.

Guofei Feng, Yifei Xu, Shun Saso, Hajime Sasano, Shigeto Kondoh, Hidetoshi Itani, Shimpei Gotoh, Mizuho Nagao, Makoto Ikejiri, Masaki Tanabe and 1 more

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In one paragraph

Article in Internal medicine (Tokyo, Japan), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.8field-weighted citation impact, top 28% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Article
  3. 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

11 authors at 5 institutions in 1 country.

Guofei FengDepartment of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Japan.
Yifei XuDepartment of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Japan.
Shun SasoFaculty of Medicine, Mie University, Japan.
Hajime SasanoDepartment of Respiratory Medicine, Japan Red Cross Ise Hospital, Japan.
Shigeto KondohDepartment of Respiratory Medicine, Japan Red Cross Ise Hospital, Japan.
Hidetoshi ItaniDepartment of Respiratory Medicine, Japan Red Cross Ise Hospital, Japan.
Shimpei GotohDepartment of Drug Discovery for Lung Diseases, Graduate School of Medicine, Kyoto University, Japan.
Mizuho NagaoInstitute for Clinical Research, National Hospital Organization Mie National Hospital, Japan.
Makoto IkejiriDepartment of Clinical Laboratory, Mie University Hospital, Japan.
Masaki TanabeDepartment of Clinical Laboratory, Mie University Hospital, Japan.
Kazuhiko TakeuchiDepartment of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Japan.
Mie University · JPIse Red Cross Hospital · JPMie University Hospital · JPKyoto University · JPNational Mie Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Primary ciliary dyskinesia (PCD) is a rare hereditary disease. We herein report two sisters in their 20s with suspected PCD. They were both born at full term and did not have situs inversus. Chest computed tomography showed similar signs of bronchiectasis in both siblings. Genetic examinations of the family confirmed that the sisters both harbored a homozygous variant in the growth-arrest-specific 2-like 2 (GAS2L2) gene. This is the third report of a family with PCD caused by a GAS2L2 variant.

Indexed as

BronchiectasisCiliary Motility DisordersSitus InversusFemaleHumansMicrofilament ProteinsMicrotubule-Associated ProteinsSiblingsTomography, X-Ray ComputedGAS2L2 protein, humanMicrofilament ProteinsMicrotubule-Associated ProteinsbronchiectasisGAS2L2geneprimary ciliary dyskinesiawhole-exome sequencing

Identifiers

PMID36104176
PMCPMC9556235
OpenAlexW4295783586

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.