ArticleAmerican journal of human genetics2018
LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.
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Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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35citing papers in PubMed
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35 citing papers in PubMed, 64 citations in OpenAlex.
- Gene-Based Rare Variant Burden Analyses Across Biobanks Identify Novel High-Risk Genes for Thoracic Aortic Disease.medRxiv : the preprint server for health sciences · 2026Article
- Growth arrest of thoracic aortic aneurysms in aging Marfan mice.American journal of physiology. Heart and circulatory physiology · 2026Article
- Multi-trait and Gene-Based Analyses Identify Genetic Variants Associated with Spontaneous Coronary Artery Dissection.medRxiv : the preprint server for health sciences · 2026Article
- Genotype/phenotype correlation in a patient with multiple abdominal and popliteal aneurysms.Journal of vascular surgery cases and innovative techniques · 2025Article
- Transcriptional regulation of postnatal aortic development.Cells & development · 2024Article
- Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.Heliyon · 2024Article
- Multiomics Data Analysis Identified CpG Sites That Mediate the Impact of Smoking on Cardiometabolic Traits.Epigenomes · 2023Article
- Article
- Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease.Nature communications · 2022Article
- Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection.Diagnostics (Basel, Switzerland) · 2022Review
- The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.Human mutation · 2022Review
- Latent TGFβ-binding proteins 1 and 3 protect the larval zebrafish outflow tract from aneurysmal dilatation.Disease models & mechanisms · 2022Article
- Applying multi-omics techniques to the discovery of biomarkers for acute aortic dissection.Frontiers in cardiovascular medicine · 2022Review
- Postnatal Smad3 Inactivation in Murine Smooth Muscle Cells Elicits a Temporally and Regionally Distinct Transcriptional Response.Frontiers in cardiovascular medicine · 2022Article
- Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.Orphanet journal of rare diseases · 2021Article
- Vascular smooth muscle cell dysfunction contribute to neuroinflammation and Tau hyperphosphorylation in Alzheimer disease.iScience · 2021Article
- A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant inGenes · 2021Article
- Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.American journal of human genetics · 2021Article
- The potential role of chemotaxis and the complement system in the formation and progression of thoracic aortic aneurysms inferred from the weighted gene coexpression network analysis.Journal of translational medicine · 2021Article
- Review
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Authors and funding
18 authors at 6 institutions in 1 country.
Dong-Chuan GuoDepartment of Internal Medicine, University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA.
Ellen S RegaladoDepartment of Internal Medicine, University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA.
Amelie PinardDepartment of Internal Medicine, University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA.
Jiyuan ChenDepartment of Internal Medicine, University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA.
Kwanghyuk LeeDepartment of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Christina RigelskyGenomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.
Lior ZilberbergDepartment of Cell Biology, New York University School of Medicine, New York, NY 10016, USA.
Ellen M HostetlerDepartment of Internal Medicine, University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA.
Micheala AldredGenomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.
Stephanie E WallaceDepartment of Internal Medicine, University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA.
Siddharth K PrakashDepartment of Internal Medicine, University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA.
University of Washington Center for Mendelian Genomics
Suzanne M LealDepartment of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Michael J BamshadDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Deborah A NickersonDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Marvin NatowiczGenomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.
Daniel B RifkinDepartment of Cell Biology, New York University School of Medicine, New York, NY 10016, USA.
Dianna M MilewiczDepartment of Internal Medicine, University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA. Electronic address: dianna.m.milewicz@uth.tmc.edu.
The University of Texas Health Science Center at Houston · USCleveland Clinic · USBaylor College of Medicine · USNew York University · USUniversity of Washington · USThe University of Texas Health Science Center · US
Funding
U OF TEXAS HLTH SCI CTR HOUSTON CENTER FOR CLINICAL AND TRANSLATIONAL SCIENCESUL1RR024148 · NCRR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MCPHERSON, DAVID D · 2006 to 2010
$27.9MUW Center for Mendelian GenomicsU54HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, NICKERSON, DEBORAH A · 2012 to 2015
$20.0MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MCenter for Clinical and Translational Sciences (CCTS)UL1TR000371 · NCATS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MCPHERSON, DAVID D · 2012 to 2016
$13.4MPathology and Molecular Imaging CoreP01HL110869 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MILEWICZ, DIANNA M · 2012 to 2016
$10.4MGenetic Predisposition To Thoracic Aortic Aneurysms/DissectionsR01HL109942 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MILEWICZ, DIANNA M · 2012 to 2023
$7.5MGenetic Basis of Aortic Aneurysms/DissectionsR01HL062594 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MILEWICZ, DIANNA M · 2002 to 2009
$3.2MNCATS NIH HHS UL1 TR000371NCRR NIH HHS UL1 RR024148NHGRI NIH HHS U54 HG006493NHGRI NIH HHS UM1 HG006493NHLBI NIH HHS HHSN268201100037CNHLBI NIH HHS P01 HL110869NHLBI NIH HHS R01 HL062594NHLBI NIH HHS R01 HL109942
Abstract
The major diseases affecting the thoracic aorta are aneurysms and acute dissections, and pathogenic variants in 11 genes are confirmed to lead to heritable thoracic aortic disease. However, many families in which multiple members have thoracic aortic disease do not have alterations in the known aortopathy genes. Genes highly expressed in the aorta were assessed for rare variants in exome sequencing data from such families, and compound rare heterozygous variants (p.Pro45Argfs
Indexed as
Genetic Predisposition to DiseaseAdultAged, 80 and overAnimalsAortic Aneurysm, ThoracicAortic DissectionBlood PressureFemaleHomozygoteHumansLatent TGF-beta Binding ProteinsMaleMiceMiddle AgedMutationPedigreeLatent TGF-beta Binding ProteinsLTBP3 protein, humanamelogenesis imperfectaaortic dissectionsheritable thoracic aortic diseasesLTBP3
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.