Search Results - "Lutz, Katie A."
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Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension
Published in Genome medicine (14-11-2019)“…Group 1 pulmonary arterial hypertension (PAH) is a rare disease with high mortality despite recent therapeutic advances. Pathogenic remodeling of pulmonary…”
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Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease
Published in Genome medicine (20-07-2018)“…Pulmonary arterial hypertension (PAH) is a rare disease characterized by distinctive changes in pulmonary arterioles that lead to progressive pulmonary…”
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Correction to: Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension
Published in Genome medicine (07-02-2022)Get full text
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RASA3 is a candidate gene in sickle cell disease‐associated pulmonary hypertension and pulmonary arterial hypertension
Published in Pulmonary circulation (01-04-2023)“…Pulmonary hypertension (PH) is associated with significant morbidity and mortality. RASA3 is a GTPase activating protein integral to angiogenesis and…”
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The angiostatic peptide endostatin enhances mortality risk prediction in pulmonary arterial hypertension
Published in ERJ open research (01-10-2021)“…Currently available noninvasive markers for assessing disease severity and mortality risk in pulmonary arterial hypertension (PAH) are unrelated to fundamental…”
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Hepatoma‐derived growth factor is associated with pulmonary vascular remodeling and PAH disease severity and survival
Published in Pulmonary circulation (01-01-2022)“…Hepatoma‐derived growth factor (HDGF) was previously shown to be associated with increased mortality in a small study of idiopathic and connective tissue…”
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COL18A1 genotypic associations with endostatin levels and clinical features in pulmonary arterial hypertension: a quantitative trait association study
Published in ERJ open research (01-04-2022)“…Endostatin (ES) is a circulating peptide derived from collagen XVIII alpha 1 (COL18A1) known to inhibit angiogenesis [1, 2]. Decreased angiogenesis is a…”
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United States Pulmonary Hypertension Scientific Registry (USPHSR): rationale, design, and clinical implications
Published in Pulmonary circulation (01-04-2019)“…Diagnostic World Health Organization (WHO) Group 1 pulmonary arterial hypertension (PAH) and Diagnostic Group 1' pulmonary veno-occlusive disease (PVOD) and/or…”
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Novel Mutations and Decreased Expression of the Epigenetic Regulator TET2 in Pulmonary Arterial Hypertension
Published in Circulation (New York, N.Y.) (16-06-2020)“…BACKGROUND:Pulmonary arterial hypertension (PAH) is a lethal vasculopathy. Hereditary cases are associated with germline mutations in BMPR2 and 16 other genes…”
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Cellular sources of interleukin-6 and associations with clinical phenotypes and outcomes in pulmonary arterial hypertension
Published in The European respiratory journal (01-04-2020)“…The pro-inflammatory cytokine interleukin (IL)-6 has been associated with outcomes in small pulmonary arterial hypertension (PAH) cohorts composed largely of…”
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Multiple Biomarkers Are Equivalent to Clinical Pulmonary Arterial Hypertension Survival Risk Models
Published in Chest (16-08-2024)“…Risk assessment in pulmonary arterial hypertension (PAH) is fundamental to guiding treatment and improved outcomes. Clinical models are excellent at…”
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Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults
Published in Circulation. Cardiovascular genetics (01-04-2018)“…Pulmonary arterial hypertension (PAH) is a rare disease characterized by pulmonary arteriole remodeling, elevated arterial pressure and resistance, and…”
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SOX17 Deficiency Mediates Pulmonary Hypertension: At the Crossroads of Sex, Metabolism, and Genetics
Published in American journal of respiratory and critical care medicine (15-04-2023)“…Genetic studies suggest that SOX17 (SRY-related HMG-box 17) deficiency increases pulmonary arterial hypertension (PAH) risk. On the basis of pathological roles…”
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Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension
Published in The European respiratory journal (01-03-2022)“…Inflammation and dysregulated immunity are important in the development of pulmonary arterial hypertension (PAH). Compelling preclinical data supports the…”
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United States Pulmonary Hypertension Scientific Registry: Baseline Characteristics
Published in Chest (01-01-2021)“…The treatment, genotyping, and phenotyping of patients with World Health Organization Group 1 pulmonary arterial hypertension (PAH) have evolved dramatically…”
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ST2 Is a Biomarker of Pediatric Pulmonary Arterial Hypertension Severity and Clinical Worsening
Published in Chest (01-07-2021)“…Pediatric pulmonary hypertension is a severe disease defined by sustained elevation of pulmonary artery pressures and pulmonary vascular resistance (PVR)…”
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Integrative Multiomics in the Lung Reveals a Protective Role of Asporin in Pulmonary Arterial Hypertension
Published in Circulation (New York, N.Y.) (15-10-2024)“…Integrative multiomics can elucidate pulmonary arterial hypertension (PAH) pathobiology, but procuring human PAH lung samples is rare. We leveraged…”
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Deficiency of the Deubiquitinase UCHL1 Attenuates Pulmonary Arterial Hypertension
Published in Circulation (New York, N.Y.) (23-07-2024)“…The ubiquitin-proteasome system regulates protein degradation and the development of pulmonary arterial hypertension (PAH), but knowledge about the role of…”
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Biomarkers of Pulmonary Hypertension Are Altered in Children with Down Syndrome and Pulmonary Hypertension
Published in The Journal of pediatrics (01-02-2022)“…To evaluate the performance of pulmonary hypertension (PH) biomarkers in children with Down syndrome, an independent risk factor for PH, in whom biomarker…”
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