Michael W. Pauciulo
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View article: Cellular Communication Network Protein 2 in the Right Ventricle of Pulmonary Arterial Hypertension
Cellular Communication Network Protein 2 in the Right Ventricle of Pulmonary Arterial Hypertension Open
Cellular communication network 2 (CCN2) is a secreted matricellular protein associated with pulmonary arterial hypertension (PAH) but has not been studied relative to PAH severity, outcomes, or right ventricle (RV) structure and function i…
View article: P262: Transformative care through genome sequencing: Insights from the first 100 patients in the CincyKidsSeq Study
P262: Transformative care through genome sequencing: Insights from the first 100 patients in the CincyKidsSeq Study Open
View article: Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic
Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic Open
Background: Rare movement disorders often have a genetic etiology. New technological advances have increased the odds of achieving genetic diagnoses: next-generation sequencing (NGS) (whole-exome sequencing—WES; whole-genome sequencing—WGS…
View article: Role of Forkhead box F1 in the Pathobiology of Pulmonary Arterial Hypertension
Role of Forkhead box F1 in the Pathobiology of Pulmonary Arterial Hypertension Open
Rationale Approximately 80% of patients with non-familial pulmonary arterial hypertension (PAH) lack identifiable pathogenic genetic variants. While most genetic studies of PAH have focused on predicted loss-of-function variants, recent ap…
View article: Equivalency of Multiple Biomarkers to Clinical Pulmonary Arterial Hypertension Survival Risk Models
Equivalency of Multiple Biomarkers to Clinical Pulmonary Arterial Hypertension Survival Risk Models Open
View article: Resistin predicts disease severity and survival in patients with pulmonary arterial hypertension
Resistin predicts disease severity and survival in patients with pulmonary arterial hypertension Open
Background Abnormal remodeling of distal pulmonary arteries in patients with pulmonary arterial hypertension (PAH) leads to progressively increased pulmonary vascular resistance, followed by right ventricular hypertrophy and failure. Despi…
View article: Deficiency of the Deubiquitinase UCHL1 Attenuates Pulmonary Arterial Hypertension
Deficiency of the Deubiquitinase UCHL1 Attenuates Pulmonary Arterial Hypertension Open
BACKGROUND: The ubiquitin-proteasome system regulates protein degradation and the development of pulmonary arterial hypertension (PAH), but knowledge about the role of deubiquitinating enzymes in this process is limited. UCHL1 (ubiquitin c…
View article: Genetic regulation and targeted reversal of lysosomal dysfunction and inflammatory sterol metabolism in pulmonary arterial hypertension
Genetic regulation and targeted reversal of lysosomal dysfunction and inflammatory sterol metabolism in pulmonary arterial hypertension Open
Vascular inflammation critically regulates endothelial cell (EC) pathophenotypes, particularly in pulmonary arterial hypertension (PAH). Dysregulation of lysosomal activity and cholesterol metabolism have known inflammatory roles in diseas…
View article: Pulmonary primary oxysterol and bile acid synthesis as a predictor of outcomes in pulmonary arterial hypertension
Pulmonary primary oxysterol and bile acid synthesis as a predictor of outcomes in pulmonary arterial hypertension Open
Pulmonary arterial hypertension (PAH) is a rare and fatal vascular disease with heterogeneous clinical manifestations. To date, molecular determinants underlying the development of PAH and related outcomes remain poorly understood. Herein,…
View article: Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension
Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension Open
Hypoxic reprogramming of vasculature relies on genetic, epigenetic, and metabolic circuitry, but the control points are unknown. In pulmonary arterial hypertension (PAH), a disease driven by hypoxia inducible factor (HIF)–dependent vascula…
View article: Germline and Somatic Mutations in DNA Methyltransferase 3A<i>(DNMT3A)</i>Predispose to Pulmonary Arterial Hypertension (PAH) in Humans and Mice:<i>Implications for Associated PAH</i>
Germline and Somatic Mutations in DNA Methyltransferase 3A<i>(DNMT3A)</i>Predispose to Pulmonary Arterial Hypertension (PAH) in Humans and Mice:<i>Implications for Associated PAH</i> Open
Background Mutations are found in 10-20% of idiopathic PAH (IPAH) patients, but none are consistently identified in connective tissue disease-associated PAH (APAH), which accounts for ∼45% of PAH cases. TET2 mutations, a cause of clonal he…
View article: Human liver single nuclear RNA sequencing implicates BMPR2, GDF15, arginine, and estrogen in portopulmonary hypertension
Human liver single nuclear RNA sequencing implicates BMPR2, GDF15, arginine, and estrogen in portopulmonary hypertension Open
Portopulmonary hypertension (PoPH) is a type of pulmonary vascular disease due to portal hypertension that exhibits high morbidity and mortality. The mechanisms driving disease are unknown, and transcriptional characteristics unique to the…
View article: Low‐affinity insulin‐like growth factor binding protein 7 and its association with pulmonary arterial hypertension severity and survival
Low‐affinity insulin‐like growth factor binding protein 7 and its association with pulmonary arterial hypertension severity and survival Open
Insulin‐like growth factor (IGF) binding proteins (IGFBPs) are a family of growth factor modifiers, some of which are known to be independently associated with pulmonary arterial hypertension (PAH) survival. IGF factor binding protein 7 (I…
View article: Deriving Convergent and Divergent Metabolomic Correlates of Pulmonary Arterial Hypertension
Deriving Convergent and Divergent Metabolomic Correlates of Pulmonary Arterial Hypertension Open
High-dimensional metabolomics analyses may identify convergent and divergent markers, potentially representing aligned or orthogonal disease pathways that underly conditions such as pulmonary arterial hypertension (PAH). Using a comprehens…
View article: Insulin‐like growth factor binding Protein‐4: A novel indicator of pulmonary arterial hypertension severity and survival
Insulin‐like growth factor binding Protein‐4: A novel indicator of pulmonary arterial hypertension severity and survival Open
Proteomic analysis of patients with pulmonary arterial hypertension (PAH) has demonstrated significant abnormalities in the insulin‐like growth factor axis (IGF). This study proposed to establish associations between a specific binding pro…
View article: <i>RASA3</i> is a candidate gene in sickle cell disease‐associated pulmonary hypertension and pulmonary arterial hypertension
<i>RASA3</i> is a candidate gene in sickle cell disease‐associated pulmonary hypertension and pulmonary arterial hypertension Open
Pulmonary hypertension (PH) is associated with significant morbidity and mortality. RASA3 is a GTPase activating protein integral to angiogenesis and endothelial barrier function. In this study, we explore the association of RASA3 genetic …
View article: SOX17 Deficiency Mediates Pulmonary Hypertension: At the Crossroads of Sex, Metabolism, and Genetics
SOX17 Deficiency Mediates Pulmonary Hypertension: At the Crossroads of Sex, Metabolism, and Genetics Open
Rationale: Genetic studies suggest that SOX17 (SRY-related HMG-box 17) deficiency increases pulmonary arterial hypertension (PAH) risk. Objectives: On the basis of pathological roles of estrogen and HIF2α (hypoxia-inducible f…
View article: Integrative Multiomics to Dissect the Lung Transcriptional Landscape of Pulmonary Arterial Hypertension
Integrative Multiomics to Dissect the Lung Transcriptional Landscape of Pulmonary Arterial Hypertension Open
Pulmonary arterial hypertension (PAH) remains an incurable and often fatal disease despite currently available therapies. Multiomics systems biology analysis can shed new light on PAH pathobiology and inform translational research efforts.…
View article: Metabolomic Profiles Differentiate Scleroderma-PAH From Idiopathic PAH and Correspond With Worsened Functional Capacity
Metabolomic Profiles Differentiate Scleroderma-PAH From Idiopathic PAH and Correspond With Worsened Functional Capacity Open
View article: Oxylipins and the Surgical Classification of Chronic Thromboembolic Pulmonary Hypertension
Oxylipins and the Surgical Classification of Chronic Thromboembolic Pulmonary Hypertension Open
Surgically accessible lesions of chronic thromboembolic pulmonary hypertension (CTEPH) are classified as proximal or distal based on the distribution of thrombus burden in the pulmonary vasculature post operatively. Surgically accessible d…
View article: <i>COL18A1</i>genotypic associations with endostatin levels and clinical features in pulmonary arterial hypertension: a quantitative trait association study
<i>COL18A1</i>genotypic associations with endostatin levels and clinical features in pulmonary arterial hypertension: a quantitative trait association study Open
Variation around the COL18A1 gene, which encodes the angiostatic peptide endostatin, may influence disease heterogeneity in pulmonary arterial hypertension https://bit.ly/3shXrNR.
View article: Correction to: Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension
Correction to: Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension Open
View article: Hepatoma‐derived growth factor is associated with pulmonary vascular remodeling and PAH disease severity and survival
Hepatoma‐derived growth factor is associated with pulmonary vascular remodeling and PAH disease severity and survival Open
Hepatoma‐derived growth factor (HDGF) was previously shown to be associated with increased mortality in a small study of idiopathic and connective tissue disease‐associated pulmonary arterial hypertension (PAH). In this study, we measured …
View article: Biomarkers of Pulmonary Hypertension Are Altered in Children with Down Syndrome and Pulmonary Hypertension
Biomarkers of Pulmonary Hypertension Are Altered in Children with Down Syndrome and Pulmonary Hypertension Open
View article: Angiostatic Peptide, Endostatin, Predicts Severity in Pediatric Congenital Heart Disease–Associated Pulmonary Hypertension
Angiostatic Peptide, Endostatin, Predicts Severity in Pediatric Congenital Heart Disease–Associated Pulmonary Hypertension Open
Background Endostatin, an angiogenic inhibitor, is associated with worse pulmonary arterial hypertension (PAH) outcomes in adults and poor lung growth in children. This study sought to assess whether endostatin is associated with disease s…
View article: Subthalamic Peak Beta Ratio Is Asymmetric in Glucocerebrosidase Mutation Carriers With Parkinson's Disease: A Pilot Study
Subthalamic Peak Beta Ratio Is Asymmetric in Glucocerebrosidase Mutation Carriers With Parkinson's Disease: A Pilot Study Open
Introduction: Up to 27% of individuals undergoing subthalamic nucleus deep brain stimulation (STN-DBS) have a genetic form of Parkinson's disease (PD). G lucocerebrosidase ( GBA ) mutation carriers, compared to sporadic PD, present with a …
View article: Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension
Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension Open
Background Inflammation and dysregulated immunity are important in the development of pulmonary arterial hypertension (PAH). Compelling preclinical data supports the therapeutic blockade of interleukin-6 (IL-6) signalling. Methods We condu…
View article: Validation of low‐coverage whole‐genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth
Validation of low‐coverage whole‐genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth Open
Preterm birth (PTB), or birth that occurs earlier than 37 weeks of gestational age, is a major contributor to infant mortality and neonatal hospitalization. Mutations in the mitochondrial genome (mtDNA) have been linked to various rare mit…
View article: The angiostatic peptide endostatin enhances mortality risk prediction in pulmonary arterial hypertension
The angiostatic peptide endostatin enhances mortality risk prediction in pulmonary arterial hypertension Open
Currently available noninvasive markers for assessing disease severity and mortality risk in pulmonary arterial hypertension (PAH) are unrelated to fundamental disease biology. Endostatin, an angiostatic peptide known to inhibit pulmonary …
View article: Metabolomic Profiles of Scleroderma-PAH are different than idiopathic PAH and associated with worse clinical outcomes
Metabolomic Profiles of Scleroderma-PAH are different than idiopathic PAH and associated with worse clinical outcomes Open
The molecular signature in patients with systemic sclerosis (SSc)-associated pulmonary arterial hypertension (SSc-PAH) relative to idiopathic pulmonary arterial hypertension (IPAH) remain unclear. We hypothesize that patients with SSc-PAH …