ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 45 citations in OpenAlex.
- Molecular signals associated with intraperitoneal chemotherapy resistance in gastric cancer with peritoneal metastasis through PIPS GC trial integrated translational research.Scientific reports · 2025Trial
- Review
- "Extracellular Matrix Senescence in the Dermal Papilla: THSD4 Downregulation at the Crossroads of Hair Follicle Aging and Alopecia".Stem cell reviews and reports · 2026Article
- Targeted Sequencing of Human Aorta Tissue Reveals Undiagnosed Heritable Thoracic Aortic Disease.Interdisciplinary cardiovascular and thoracic surgery · 2026Article
- Multi-trait and Gene-Based Analyses Identify Genetic Variants Associated with Spontaneous Coronary Artery Dissection.medRxiv : the preprint server for health sciences · 2026Article
- Combining genome and tissue engineering for next-generation human biomimetics.Stem cells translational medicine · 2025Article
- Association of air pollution exposure and genetic susceptibility with increased risk of thoracic aortic aneurysm and dissection.Nature cardiovascular research · 2025Article
- The Expanding Genetic Architecture of Arteriopathies: From Canonical TAAD Genes to Emerging Connective Tissue and Signaling Pathways.Medical sciences (Basel, Switzerland) · 2025Review
- Genome-Wide Association Study of Immune Indices in Yaks.Animals : an open access journal from MDPI · 2025Article
- Integrative Transcriptomic and Metabolomic Analysis of Muscle and Liver Reveals Key Molecular Pathways Influencing Growth Traits in Zhedong White Geese.Animals : an open access journal from MDPI · 2025Article
- ProteinMolecules (Basel, Switzerland) · 2025Review
- Worldwide study of the taste of bitter medicines and their modifiers.Chemical senses · 2025Article
- The generation of stable microvessels in ischemia is mediated by endothelial cell derived TRAIL.Science advances · 2024Article
- Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder.International journal of molecular sciences · 2024Article
- Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center.Scientific reports · 2024Article
- Heritable thoracic aortic disease: a literature review on genetic aortopathies and current surgical management.General thoracic and cardiovascular surgery · 2024Review
- Worldwide study of the taste of bitter medicines and their modifiers.bioRxiv : the preprint server for biology · 2024Article
- Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.Journal of medical genetics · 2024Article
- Emerging roles for the ADAMTS-like family of matricellular proteins in cardiovascular disease through regulation of the extracellular microenvironment.Molecular biology reports · 2024Review
- Animal Models, Pathogenesis, and Potential Treatment of Thoracic Aortic Aneurysm.International journal of molecular sciences · 2024Review
Corrections and comments
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Authors and funding
35 authors at 12 institutions in 7 countries.
Funding
Abstract
purposeThoracic aortic aneurysm and dissection (TAAD) is a life-threatening disease with often unrecognized inherited forms. We sought to identify novel pathogenic variants associated with autosomal dominant inheritance of TAAD.
methodsWe analyzed exome sequencing data from 35 French TAAD families and performed next-generation sequencing capture panel of genes in 1114 unrelated TAAD patients. Functional effects of pathogenic variants identified were validated in cell, tissue, and mouse models.
resultsWe identified five functional variants in THSD4 of which two heterozygous variants lead to a premature termination codon. THSD4 encodes ADAMTSL6 (member of the ADAMTS/L superfamily), a microfibril-associated protein that promotes fibrillin-1 matrix assembly. The THSD4 variants studied lead to haploinsufficiency or impaired assembly of fibrillin-1 microfibrils. Thsd4
conclusionThese findings highlight the role of ADAMTSL6 in aortic physiology and TAAD pathogenesis. They will improve TAAD management and help develop new targeted therapies.
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