Evidence map›Paper›PMID 34315806›Full record

ArticleScience signaling2021

Short stature and combined immunodeficiency associated with mutations in RGS10.

Ivan K Chinn, Zhihui Xie, Eunice C Chan, Bianca M Nagata, Alexey Koval, Wei-Sheng Chen, Fan Zhang, Sundar Ganesan, Diana N Hong, Motoshi Suzuki and 8 more

Open access · greenAbstract read
In one paragraph

Article in Science signaling, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.2field-weighted citation impact, top 50% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. Genetic variants of accessory proteins and G proteins in human genetic disease.Critical reviews in clinical laboratory sciences · 2025
    Review
  3. Article
  4. 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

18 authors at 5 institutions in 3 countries.

Ivan K ChinnDepartment of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0001-5684-5457
Zhihui XieLung and Vascular Inflammation Section, Laboratory of Allergic Diseases, NIAID/NIH Bethesda, MD 20892, USA.
Eunice C ChanLung and Vascular Inflammation Section, Laboratory of Allergic Diseases, NIAID/NIH Bethesda, MD 20892, USA.
Bianca M NagataInfectious Disease Pathogenesis Section, NIAID/NIH, Bethesda, MD 20892, USA.ORCID 0000-0002-7479-0012
Alexey KovalDepartment of Cell Physiology and Metabolism, Translational Research Centre in Oncohaematology, Faculty of Medicine, University of Geneva, Rue Michel-Servet 1, Geneva CH-1211, Switzerland.ORCID 0000-0002-8920-4426
Wei-Sheng ChenLung and Vascular Inflammation Section, Laboratory of Allergic Diseases, NIAID/NIH Bethesda, MD 20892, USA.
Fan ZhangTransgenic Core, NHLBI/NIH, Bethesda, MD 20892 USA.ORCID 0000-0002-0744-673X
Sundar GanesanBiological Imaging Section, NIAID/NIH Bethesda, MD 20892, USA.
Diana N HongDepartment of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0002-4292-4514
Motoshi SuzukiProtein Chemistry Section, NIAID/NIH, Bethesda, MD 20892, USA.ORCID 0000-0002-4346-7677
Glenn NardoneProtein Chemistry Section, NIAID/NIH, Bethesda, MD 20892, USA.ORCID 0000-0001-5139-0115
Ian N MooreInfectious Disease Pathogenesis Section, NIAID/NIH, Bethesda, MD 20892, USA.ORCID 0000-0002-0391-6466
Vladimir L KatanaevDepartment of Cell Physiology and Metabolism, Translational Research Centre in Oncohaematology, Faculty of Medicine, University of Geneva, Rue Michel-Servet 1, Geneva CH-1211, Switzerland.ORCID 0000-0002-7909-5617
Andrea E BalazsDepartment of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0002-4332-0616
Chengyu LiuTransgenic Core, NHLBI/NIH, Bethesda, MD 20892 USA.ORCID 0000-0002-5136-9225
James R LupskiDepartment of Molecular and Human Genetics and Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0001-9907-9246
Jordan S OrangeColumbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Hospital.ORCID 0000-0001-7117-7725
Kirk M DrueyLung and Vascular Inflammation Section, Laboratory of Allergic Diseases, NIAID/NIH Bethesda, MD 20892, USA. kdruey@niaid.nih.gov.ORCID 0000-0002-5834-6501
National Institutes of Health · USBaylor College of Medicine · USNational Heart Lung and Blood Institute · USUniversity of Geneva · CHNewYork–Presbyterian Hospital · US

Funding

Infectious Diseases Research Technologies Core - BethesdaZICAI001051 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI CHERRY, JAMES · 2009 to 2025
$226.1M
Baylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5M
GENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCYR01AI120989 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ORANGE, JORDAN SCOTT · 2016 to 2025
$7.7M
Heterotrimeric G Protein Signaling In Allergic InflammationZIAAI000746 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI DRUEY, KIRK M · 2009 to 2025
$4.6M
Regulation of Normal and Asthmatic Lung Function by G-Protein-Coupled ReceptorsZ01AI000939 · NIAID · NIAID EXTRAMURAL ACTIVITIES · PI DRUEY, KIRK M · 2004 to 2008
$832k
Intramural NIH HHS Z01 AI000939NHGRI NIH HHS UM1 HG006542NIAID NIH HHS R01 AI120989
6 · The paper itself

Abstract

We report the clinical and molecular phenotype of three siblings from one family, who presented with short stature and immunodeficiency and carried uncharacterized variants in

Indexed as

RGS ProteinsBody HeightGTP-Binding ProteinsHumansMutationPrimary Immunodeficiency DiseasesReceptors, G-Protein-CoupledSignal TransductionGTP-Binding ProteinsReceptors, G-Protein-CoupledRGS10 protein, humanRGS Proteins

Identifiers

PMID34315806
PMCPMC8522579
OpenAlexW3183147160

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.