Evidence map›Paper›PMID 38472338›Full record

ReviewGenes and immunity2024

Pivotal role of BCL11B in the immune, hematopoietic and nervous systems: a review of the BCL11B-associated phenotypes from the genetic perspective.

José María García-Aznar, Sara Alonso Alvarez, Teresa Bernal Del Castillo

Open access · hybridAbstract readReview
In one paragraph

Review in Genes and immunity, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
4.0field-weighted citation impact, top 6% 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

12 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Article
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  4. Article
  5. Orthogonal disentanglement of single-cell multi-omics reveals private and shared drivers of tissue development and pathogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  6. Article
  7. Article
  8. Genome-wide association study of adolescent-onset depression.medRxiv : the preprint server for health sciences · 2025
    Article
  9. Article
  10. Article
  11. Review
  12. 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

3 authors at 2 institutions in 1 country.

José María García-AznarHealthincode, A Coruña, Spain. chema.gan86@gmail.com.ORCID 0000-0001-5225-6823
Sara Alonso AlvarezUniversitary Institute of Oncology of Principado de Asturias (IUOPA), Oviedo, Spain.
Teresa Bernal Del CastilloUniversitary Institute of Oncology of Principado de Asturias (IUOPA), Oviedo, Spain.
Gobierno del Principado de Asturias · ESUniversidade da Coruña · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The transcription factor BCL11B plays an essential role in the development of central nervous system and T cell differentiation by regulating the expression of numerous genes involved in several pathways. Monoallelic defects in the BCL11B gene leading to loss-of-function are associated with a wide spectrum of phenotypes, including neurological disorders with or without immunological features and susceptibility to hematological malignancies. From the genetic point of view, the landscape of BCL11B mutations reported so far does not fully explain the genotype-phenotype correlation. In this review, we sought to compile the phenotypic and genotypic variables associated with previously reported mutations in this gene in order to provide a better understanding of the consequences of deleterious variants. We also highlight the importance of a careful evaluation of the mutation type, its location and the pattern of inheritance of the variants in order to assign the most accurate pathogenicity and actionability of the genetic findings.

Indexed as

Repressor ProteinsTumor Suppressor ProteinsAnimalsHematopoietic SystemHumansImmune SystemMutationPhenotypeBCL11B protein, humanRepressor ProteinsTumor Suppressor Proteins

Identifiers

PMID38472338
PMCPMC11178493
OpenAlexW4394755946

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.