Evidence map›Paper›PMID 37865798›Full record

ArticleClinical epigenetics2023

Further refinement of the differentially methylated distant lung-specific FOXF1 enhancer in a neonate with alveolar capillary dysplasia.

Przemyslaw Szafranski, Rijutha P Garimella, Haresh Mani, Ryan Hartman, Gail Deutsch, Alan Silk, Alan Benheim, Paweł Stankiewicz

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical epigenetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 40% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

8 authors at 5 institutions in 1 country.

Przemyslaw SzafranskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, ABBR-R809, Houston, TX, 77030, USA.
Rijutha P GarimellaDepartment of Pediatrics, Inova LJ Murphy Children's Hospital, Falls Church, VA, USA.
Haresh ManiDepartment of Pathology, Inova Fairfax Hospital, Falls Church, VA, USA.
Ryan HartmanInova Department of Genetics, Inova Fairfax Medical Campus, Falls Church, VA, USA.
Gail DeutschUniversity of Washington School of Medicine, Seattle, WA, USA.
Alan SilkNeonatology, Fairfax Neonatology Associates, Inova Fair Oaks Hospital, Inova LJ Murphy, Children's Hospital, Fairfax, VA, USA.
Alan BenheimDivision of Pediatric Cardiology, Inova LJ Murphy Children's Hospital, Falls Church, VA, USA.
Paweł StankiewiczDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, ABBR-R809, Houston, TX, 77030, USA. pawels@bcm.edu.
Inova Children's Hospital · USInova Fairfax Hospital · USBaylor College of Medicine · USBaylor Genetics · USUniversity of Washington · US

Funding

Etiology and pathogenesis of lethal lung developmental disorders in neonatesR01HL165301 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI PAWEL STANKIEWICZ · 2023 to 2026
$3.1M
NHLBI NIH HHS R01 HL165301
6 · The paper itself

Abstract

Heterozygous SNVs or CNV deletions involving the FOXF1 gene, or its distant enhancer, are causative for 80-90% of cases of alveolar capillary dysplasia with misalignment of pulmonary veins. Recently, we proposed bimodal structure and parental functional dimorphism of the lung-specific FOXF1 enhancer, with Unit 1 having higher activity on the paternal chr16 and Unit 2 on the maternal chr16. Here, we describe a novel unusually sized pathogenic de novo copy-number variant deletion involving a portion of the FOXF1 enhancer on maternal chr16 that implies narrowing Unit 2 to an essential ~ 9-kb segment. Using a restrictase-based assay, we found that this enhancer segment is weakly methylated at ApT adenine, with about twice the frequency of methylation on the maternal versus paternal chr16. Our data provide further insight into the FOXF1 enhancer structure and function.

Indexed as

Persistent Fetal Circulation SyndromeDNA MethylationEnhancer Elements, GeneticForkhead Transcription FactorsHumansInfant, NewbornLungPulmonary AlveoliSequence DeletionForkhead Transcription FactorsFOXF1 protein, humanACDMPVDevelopmental lung disordersDifferential methylationGene regulationTissue-specific enhancer

Identifiers

PMID37865798
PMCPMC10589973
OpenAlexW4387847735

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.