Journal Articles

Progress: The number of journal articles in the medical literature focused on ACDMPV is steadily increasing. This growth reflects a rising awareness of ACDMPV and highlights the expanding body of research dedicated to ACDMPV.  Thank you to the researchers and clinicians who are contributing to this vital field of study.

Recent Publications: Below is a sample of recent publications contributing to the knowledge and discussion of ACDMPV.

Archive: You are invited to view additional materials in our Publication Archive.

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Sample (from Spring 2025 ACDA Notes, Issue #86):

The developmental biology research team at  Phoenix Children’s, University of Arizona College of Medicine – Phoenix in Phoenix, Arizona, USA (see Issues #82-83 of ACDA Notes) and the research team at Cincinnati Children’s Hospital Medical Center in Cincinnati, Ohio, USA (see Issues #57, #62-63, #68-69, #71-72, #74-76 and #81-83 of ACDA Notes) collaborated to publish an abstract entitled, “Identification of FOXF1-expresssing Endothelial Cells in the Placentas Tissues” (Link)

The developmental biology research team at Phoenix Children’s, University of Arizona College of Medicine – Phoenix and  the research team at Cincinnati Children’s Hospital Medical Center also collaborated with other institutions to publish a preprint entitled, “Role of Forkhead box F1 in the Pathobiology of Pulmonary Arterial Hypertension”. This paper connects FOXF1 to adult Pulmonary Hypertension, which may result in broader opportunities for drug development. (Link)

Research teams at the University of Texas Southwestern Medical Center and Children’s Medical Center in Dallas, Texas, USA (see Issue #83 of ACDA Notes) collaborated with other institutions to publish a manuscript entitled, “Dynamics of primary cilia in endothelial and mesenchymal cells…”. (Link)

Sample (from Summer 2024 ACDA Notes, Issue #83):

The genetic research team at Baylor College of Medicine in Houston, Texas, USA collaborated with several other research teams to publish a manuscript entitled, “Further refinement of the differentially methylated distant lung-specific FOXF1 enhancer in a neonate with alveolar capillary dysplasia”. (Link)

Research teams at the Hannover Medical School in Hannover, Germany published a manuscript entitled, “Morphomolecular analysis of the capillary network in alveolar capillary dysplasia”. (Link)

Research teams at the Hannover Medical School in Hannover, Germany also published a manuscript entitled, “Multilamellated Basement Membranes in the Capillary Network of Alveolar Capillary Dysplasia”. (Link)

The developmental biology research team at Cincinnati Children’s Hospital Medical Center in Cincinnati, Ohio, USA (see Issues #57, #62-63, #68-69, #71-72, #74-76 and #81-82 of ACDA Notes) and the research team at Phoenix Children’s, University of Arizona College of Medicine – Phoenix in Phoenix, Arizona, USA (see Issue #82 of ACDA Notes) collaborated to publish a manuscript entitled, “Hypoxia represses FOXF1 in lung endothelial cells through HIF-1α” (Link)

Several ACDMPV research teams published abstracts from the American Thoracic Society 2024 International Conference, as follows: (i) University of Colorado School of Medicine in Aurora, Colorado, USA (see Issue #69 of ACDA Notes), “Spatially Resolved Transcriptomics in Alveolar Capillary Dysplasia Identify Vessel-specific Gene Networks of Dysplastic Capillaries and Reduced Mature Alveolar Capillaries” (Link), (ii) Hannover Medical School in Hannover, Germany, “Three-dimensional Analysis of the Microvasculature in Alveolar Capillary Dysplasia” (Link), and (iii) University of Wisconsin-Madison in Madison, Wisconsin, USA, “Rapid Whole Genome Sequencing (WGS) in Diagnosing the Etiology of Refractory Pulmonary Hypertension of the Newborn (PPHN)” (Link)

The developmental biology research team at Cincinnati Children’s Hospital Medical Center in Cincinnati, Ohio, USA (see Issues #57, #62-63, #68-69, #71-72, #74-76 and #81-82 of ACDA Notes) and the research team at Phoenix Children’s, University of Arizona College of Medicine – Phoenix in Phoenix, Arizona, USA (see Issue #82 of ACDA Notes) collaborated to publish a manuscript entitled, “Identification of endothelial and mesenchymal FOXF1 enhancers involved in alveolar capillary dysplasia” (Link)

Sample (from Fall 2023 ACDA Notes, Issue #82):

The developmental biology research team at Cincinnati Children’s Hospital Medical Center in Cincinnati, Ohio, USA (see Issues #57, #62-63, #68-69, #71-72, #74-76 and #81 of ACDA Notes) published an important manuscript in Spring 2023 entitled,  “Demonstration of Safety in Wild Type Mice of npFOXF1, a Novel Nanoparticle-Based Gene Therapy for Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins” in the Biologics research journal, which can be found HERE. Note, this groundbreaking work was funded in part by the 2021 ACDA research grant, funded directly to Cincinnati Children’s Hospital in the amount of $50,000.

The genetic research team at Baylor College of Medicine in Houston, Texas, USA published a manuscript entitled, “A Small De Novo CNV Deletion of the Paternal Copy of FOXF1, Leaving lncRNA FENDRR Intact, Provides Insight into Their Bidirectional Promoter Region” in the Non-Coding RNA research journal, which can be found HERE.

An international team in Poland collaborated with the genetic research team at Baylor College of Medicine in Houston, Texas, USA and University of Washington School of Medicine to publish a case study entitled, “Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis” in the Genes (Basel) journal, which can be found HERE.

The developmental biology research team at Cincinnati Children’s Hospital Medical Center in Cincinnati, Ohio, USA (see Issues #57, #62-63, #68-69, #71-72, #74-76 and #81 of ACDA Notes) and the genetic research team at Baylor College of Medicine in Houston, Texas, USA collaborated with multiple other research teams to publish a manuscript entitled, “Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary Dysplasia” in the American Journal of Respiratory and Critical Care Medicine research journal, which can be found HERE.

Dr. Abid Al Reza in Cincinnati, Ohio published his PhD dissertation entitled, “The Role of Forkhead Box F1 Transcription Factor in Mesenchymal-Epithelial Signaling During Lung Development” published by University of Cincinnati, which can be found HERE.

Research teams at the Mayo Clinic in Rochester, Minnesota, USA   published a case report entitled, “Neonatal Diagnosis of Alveolar Capillary Dysplasia via Rapid Genomic Sequencing: A New Gold Standard?” in the Neonatology research journal, which can be found HERE.

The genetic research team at Erasmus University Medical Center in Rotterdam, The Netherlands     recently published a manuscript entitled, “Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins” in the Laboratory Investigations research journal, which can be found HERE.

Research teams in China published a manuscript entitled, “Genetic analysis of an infant death due to a paternally derived FOXF1 somatic-gonadal mosaic variant” in the Chinese Journal of Medical Genetics, which can be found HERE.

Research teams in Utah, USA published a manuscript entitled, “Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure” in the Cold Spring Harbor Molecular Case Studies, which can be found HERE.