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Article

Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development.

Journal of medical genetics - 1 May 2020

Steiner Laurie A, Getman Michael, Schiralli Lester Gillian M, Iqbal M Anwar, Katzman Philip, Szafranski Przemyslaw, Stankiewicz Pawel, Bhattacharya Soumyaroop, Mariani Thomas, Pryhuber Gloria, Lin Xin, Young Jennifer L, Dean David A, Scheible Kristin

Abstract excerpt

BACKGROUND: Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a lethal disorder of lung development. ACDMPV is associated with haploinsufficiency of the transcription factor FOXF1, which plays an important role in the development of the lung and intestine. CNVs upstream of the FOXF1 gene have also been associated with an ACDMPV phenotype, but mechanism(s) by which these deletions...

Topics

Chromosomes, Human, Pair 16
Enhancer Elements, Genetic
Forkhead Transcription Factors
Gene Deletion
Gene Expression Regulation
Genetic Predisposition to Disease
Haploinsufficiency
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Lung

Persistent Fetal Circulation Syndrome

Source

Identifiers

PMID: 31662342
DOI: 10.1136/jmedgenet-2019-106095

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development.PMID 31662342Read ↗

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