Special Issue "BMP Signaling and Beyond: Breaking the Cell Code of PAH"

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cell Signaling".

Deadline for manuscript submissions: 30 December 2021.

Special Issue Editors

Dr. Vinicio A. De Jesus Perez
E-Mail Website
Guest Editor
School of Medicine, Stanford University, Stanford, CA, USA
Interests: pulmonary hypertension; pulmonary fibrosis; vascular biology; pericytes; endothelial cells; smooth muscle cells; mitochondria; drug-induced lung injury, health disparities; medical education
Dr. James West
E-Mail Website
Guest Editor
Vanderbilt University Medical Center, Nashville, TN, USA
Interests: BMPR2; pulmonary hypertension; vascular biology; mouse models
Dr. Jair Antonio Tenorio Castaño
E-Mail Website
Guest Editor
Hospital Universitario La Paz, Madrid, Spain
Interests: molecular genetics; NGS; genetic diagnostic
Special Issues and Collections in MDPI journals

Special Issue Information

Dear Colleagues,

Pulmonary arterial hypertension (PAH) is a disease associated with abnormally elevated pulmonary pressures and right heart failure that, if untreated, leads to premature death. Despite the availability of 14 approved drugs, PAH remains a challenging disease with a high index of morbidity and mortality. At the center of this dilemma is the progressive nature of the disease, which ultimately overcomes medical therapy and leaves the patient with few options for life-saving interventions.

A key feature of PAH is the rich milieu of cell types and molecular markers found within the vascular lesions. Advances in genetics and molecular biology have revolutionized our understanding of the mechanisms behind PAH pathogenesis and the genetic modifiers that increase the risk of disease development on susceptible individuals. For over 20 years, the BMP pathway has remained a subject of intense research given its association with both hereditary and sporadic PAH and has led to the development of medications tailored to restore BMP homeostasis in the pulmonary vasculature. However, despite these exciting advances, there are still open questions regarding the cellular origin of PAH and whether dysregulation of BMP signaling alone is responsible for driving the abnormal cellular changes intrinsic to the disease.

This Research Topic represents a concerted effort to update the community on the state-of-the-art knowledge in PAH and to discuss provocative questions that remain of great interest to investigators in the field. We hope to provide readers with a unique and unbiased resource that will be useful in the development of new research directions that will guide efforts to identify new treatment targets and biomarkers for PAH.

Dr. Vinicio A. De Jesus Perez
Dr. James West
Dr. Jair Antonio Tenorio Castaño
Guest Editors

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cells is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • PAH, BMP Signaling
  • Epigenetics
  • Genetics
  • Endothelial Cells
  • Smooth Muscle Cells
  • Fibroblasts
  • Immunity
  • Pericytes
  • Fibrosis
  • Metabolism
  • DNA Damage
  • Cancer

Published Papers (1 paper)

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Brief Report
Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease
Cells 2021, 10(6), 1488; https://doi.org/10.3390/cells10061488 - 13 Jun 2021
Viewed by 671
Abstract
Pulmonary Arterial Hypertension (PAH) is a severe complication of Connective Tissue Disease (CTD), with remarkable morbidity and mortality. However, the molecular and genetic basis of CTD-PAH remains incompletely understood. This study aimed to screen for genetic defects in a cohort of patients with [...] Read more.
Pulmonary Arterial Hypertension (PAH) is a severe complication of Connective Tissue Disease (CTD), with remarkable morbidity and mortality. However, the molecular and genetic basis of CTD-PAH remains incompletely understood. This study aimed to screen for genetic defects in a cohort of patients with CTD-PAH, using a PAH-specific panel of 35 genes. During recruitment, 79 patients were studied, including 59 Systemic Sclerosis patients (SSc) and 69 females. Disease-associated variants were observed in nine patients: 4 pathogenic/likely pathogenic variants in 4 different genes (TBX4, ABCC8, KCNA5 and GDF2/BMP9) and 5 Variants of Unknown Significance (VUS) in 4 genes (ABCC8, NOTCH3, TOPBP1 and CTCFL). One patient with mixed CTD had a frameshift pathogenic variant in TBX4. Two patients with SSc-PAH carried variants in ABCC8. A patient diagnosed with Systemic Lupus Erythematous (SLE) presented a pathogenic nonsense variant in GDF2/BMP9. Another patient with SSc-PAH presented a pathogenic variant in KCNA5. Four patients with SSc-PAH carried a VUS in NOTCH1, CTCFL, CTCFL and TOPBP1, respectively. These findings suggest that genetic factors may contribute to Pulmonary Vascular Disease (PVD) in CTD patients. Full article
(This article belongs to the Special Issue BMP Signaling and Beyond: Breaking the Cell Code of PAH)
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