Evidence map›Paper›PMID 37915722›Full record

ArticleThe journal of allergy and clinical immunology. Global2024

Novel hemizygous

Anna Khoreva, Kirill R Butov, Elena I Nikolaeva, Alexey Martyanov, Elena Kulakovskaya, Dmitry Pershin, Maxim Alexenko, Maria Kurnikova, Ruslan Abasov, Elena Raykina and 11 more

Open access · goldAbstract read
In one paragraph

Article in The journal of allergy and clinical immunology. Global, 2024. 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
1.2field-weighted citation impact, top 20% 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, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. A Hypothesis: Metabolic Contributions to 16p11.2 Deletion Syndrome.BioEssays : news and reviews in molecular, cellular and developmental biology · 2025
    Review
  4. Article
  5. The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024
    Review
  6. Review
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

21 authors at 4 institutions in 1 country.

Anna KhorevaDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Kirill R ButovDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Elena I NikolaevaCenter for Theoretical Problems of Physicochemical Pharmacology, Moscow, Russia.
Alexey MartyanovDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Elena KulakovskayaDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Dmitry PershinDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Maxim AlexenkoDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Maria KurnikovaDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Ruslan AbasovDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Elena RaykinaDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Dmitry AbramovDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Kristina ArnaudovaAstrakhan State Medical University, Astrakhan, Russia.
Yulia RodinaDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Natalia TrubinaDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Yulia SkvortsovaDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Dmitry BalashovDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Anastasia SveshnikovaDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Alexey MaschanDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Galina NovichkovaDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Mikhail PanteleevDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Anna ShcherbinaDmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology · RUCenter for Theoretical Problems of Physicochemical Pharmacology · RUAstrakhan State Medical University · RULomonosov Moscow State University · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: To date, fewer than 20 patients have been identified as having germline biallelic mutations in the coronin-1A gene ( Objective: We sought to characterize the underlying defects of actin-dependent cellular functions in a female patient with combined immunodeficiency caused by a novel missense variant in the Methods: To identify the genetic defect, next-generation sequencing followed by Sanger confirmation and array comparative genomic hybridization were performed. Western blot and quantitative PCR tests were used to assess the effects on the protein. Flow cytometry and live microscopy were performed to investigate cellular motility and immune cell counts and function. Results: We demonstrated that the Conclusion: Collectively, we added new data about the

Indexed as

actincombined immunodeficiencyCORO1Acytoskeletongranulomatous dermatitisplatelet

Identifiers

PMID37915722
PMCPMC10616384
OpenAlexW4387108155

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.