Evidence map›Paper›PMID 26085809›Full record

ArticleCurrent genomics2015

Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease.

Avinash V Dharmadhikari, Przemyslaw Szafranski, Vladimir V Kalinichenko, Pawel Stankiewicz

Open access · bronzeAbstract read
In one paragraph

Article in Current genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed, 1 pooled it
2.1field-weighted citation impact, top 13% 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

38 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Review
  6. Review
  7. CRISPR-Cas9 Genome Editing Allows Generation of the Mouse Lung in a Rat.American journal of respiratory and critical care medicine · 2024
    Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Article
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  16. Article
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  18. Article
  19. Therapeutic Potential of Endothelial Progenitor Cells in Pulmonary Diseases.American journal of respiratory cell and molecular biology · 2021
    Review
  20. 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

4 authors at 2 institutions in 3 countries.

Avinash V DharmadhikariDepartment of Molecular and Human Genetics; ; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX, USA;
Przemyslaw SzafranskiDepartment of Molecular and Human Genetics;
Vladimir V KalinichenkoDivisions of Pulmonary Biology and Developmental Biology, Perinatal Institute, Cincinnati Children's Research Foundation, Cincinnati, OH, USA.
Pawel StankiewiczDepartment of Molecular and Human Genetics; ; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX, USA;
Baylor College of Medicine · USHospital Research Foundation · AU

Funding

Fox Transcription Factors in Development of Pulmonary CapillariesR01HL084151 · NHLBI · UNIVERSITY OF CHICAGO · PI KALINICHENKO, VLADIMIR · 2006 to 2018
$4.9M
Pathogenetics of the FOX transcription factor gene cluster on 16q24.1R01HL101975 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI STANKIEWICZ, PAWEL · 2010 to 2013
$1.8M
Transcriptional regulation of goblet cell metaplasiaR01HL123490 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI KALINICHENKO, VLADIMIR · 2014 to 2017
$1.6M
NHLBI NIH HHS R01 HL084151NHLBI NIH HHS R01 HL101975NHLBI NIH HHS R01 HL123490
6 · The paper itself

Abstract

The FOXF1 (Forkhead box F1) gene, located on chromosome 16q24.1 encodes a member of the FOX family of transcription factors characterized by a distinct forkhead DNA binding domain. FOXF1 plays an important role in epithelium-mesenchyme signaling, as a downstream target of Sonic hedgehog pathway. Heterozygous point mutations and genomic deletions involving FOXF1 have been reported in newborns with a lethal lung developmental disorder, Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV). In addition, genomic deletions upstream to FOXF1 identified in ACDMPV patients have revealed that FOXF1 expression is tightly regulated by distal tissue-specific enhancers. Interestingly, FOXF1 has been found to be incompletely paternally imprinted in human lungs; characterized genomic deletions arose de novo exclusively on maternal chromosome 16, with most of them being Alu-Alu mediated. Regulation of FOXF1 expression likely utilizes a combination of chromosomal looping, differential methylation of an upstream CpG island overlapping GLI transcription factor binding sites, and the function of lung-specific long non-coding RNAs (lncRNAs). FOXF1 knock-out mouse models demonstrated its critical role in mesoderm differentiation and in the development of pulmonary vasculature. Additionally, epigenetic inactivation of FOXF1 has been reported in breast and colorectal cancers, whereas overexpression of FOXF1 has been associated with a number of other human cancers, e.g. medulloblastoma and rhabdomyosarcoma. Constitutional duplications of FOXF1 have recently been reported in congenital intestinal malformations. Thus, understanding the genomic and epigenetic complexity at the FOXF1 locus will improve diagnosis, prognosis, and treatment of ACDMPV and other human disorders associated with FOXF1 alterations.

Indexed as

ACDMPVGene regulationGenomic-imprintingLong non-coding RNALung developmentPulmonary vasculature.

Identifiers

PMID26085809
PMCPMC4467301
OpenAlexW1999218950

What OpenQuestion holds

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LicenceCC BY-NC
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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.