Evidence map›Paper›PMID 40612668›Full record

ArticleGenes & diseases2025

Clinical relevance of loss-of-function mutations of

Jin Wang, Kexin Shen, Hongxia Lou, Lina Zhou, Yunfei An, Xiaodong Zhao, Yuan Ding

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes & diseases, 2025. 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
–field-weighted citation impact
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.

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

7 authors.

Jin WangGrowth, Development and Mental Health Center of Children and Adolescents, Children's Hospital of Chongqing Medical University, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 401146, China.
Kexin ShenGrowth, Development and Mental Health Center of Children and Adolescents, Children's Hospital of Chongqing Medical University, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 401146, China.
Hongxia LouGrowth, Development and Mental Health Center of Children and Adolescents, Children's Hospital of Chongqing Medical University, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 401146, China.
Lina ZhouChongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing 400014, China.
Yunfei AnChongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing 400014, China.
Xiaodong ZhaoChongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing 400014, China.
Yuan DingGrowth, Development and Mental Health Center of Children and Adolescents, Children's Hospital of Chongqing Medical University, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 401146, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dysfunctional inhibitor of nuclear factor-κB (NF-κB) kinase regulatory subunit gamma (

Indexed as

Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID)Immunodeficiency (ID)Incontinentia pigmenti (IP)Inhibitor of nuclear factor kappa B kinase regulatory subunit gamma (IKBKG)NEMO deleted exon 5 autoinflammatory syndrome (NDAS)Nuclear factor-κB (NF-κB) essential modulator (NEMO)

Identifiers

PMID40612668
PMCPMC12221755

What OpenQuestion holds

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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.