ArticleAmerican journal of human genetics2022
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
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Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 21 citations in OpenAlex.
- Proteomic and degradomic signatures of extracellular matrix remodeling in calcific aortic valve stenosis.Molecular medicine (Cambridge, Mass.) · 2026Article
- Roles and molecular mechanisms of EMILIN-1 in physiology and disease: a narrative review.Frontiers in medicine · 2026Review
- Molecular and spatial specialization of lung interstitial macrophage subsets: beyond chemokines.Frontiers in immunology · 2026Article
- Chronic ACTH Infusion Alters the Diurnal Rhythm of Sodium Excretion, Inducing Nondipping Blood Pressure and Salt-Sensitivity in Male Mice.Hypertension (Dallas, Tex. : 1979) · 2025Article
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- New insights into the structural role of EMILINs within the human skin microenvironment.Scientific reports · 2024Article
- Comprehensive analysis of abnormal methylation modification differential expression mRNAs between low-grade and high-grade intervertebral disc degeneration and its correlation with immune cells.Annals of medicine · 2024Article
- Integrated machine learning-driven disulfidptosis profiling: CYFIP1 and EMILIN1 as therapeutic nodes in neuroblastoma.Journal of cancer research and clinical oncology · 2024Article
- Animal Models, Pathogenesis, and Potential Treatment of Thoracic Aortic Aneurysm.International journal of molecular sciences · 2024Review
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Authors and funding
40 authors at 20 institutions in 10 countries.
Christin S AdamoDepartment of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Aude BeyensCenter for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium; Department of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium.
Alvise SchiavinatoDepartment of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Istituto Di Patalogia Clinica, Azienda Sanitaria Universitaria Integrata di Udine (ASUID), 33100 Udine, Italy.
Douglas R KeeneResearch Division, Shriners Hospital for Children, Portland, OR 97239, USA.
Sara F TufaResearch Division, Shriners Hospital for Children, Portland, OR 97239, USA.
Matthias MörgelinDivision of Infection Medicine, Department of Clinical Sciences, Lund University, 22242 Lund, Sweden; Colzyx AB, 22363 Lund, Sweden.
Jürgen BrinckmannDepartment of Dermatology and Institute of Virology and Cell Biology, University of Lübeck, 23562 Lübeck, Germany.
Takako SasakiDepartment of Biochemistry II, Faculty of Medicine, Oita University, Oita 870-1192, Japan.
Anja NiehoffCologne Center for Musculoskeletal Biomechanics (CCMB), Medical Faculty and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Institute of Biomechanics and Orthopaedics, German Sport University Cologne, 50933 Cologne, Germany.
Maren DreinerInstitute of Biomechanics and Orthopaedics, German Sport University Cologne, 50933 Cologne, Germany.
Lore PottieCenter for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.
Laura Muiño-MosqueraCenter for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Pediatric Cardiology, Ghent University Hospital, 9000 Ghent, Belgium.
Elif Yilmaz GulecDepartment of Medical Genetics, Istanbul Medeniyet University Medical School, 34720 Istanbul, Turkey; Department of Medical Genetics, Istanbul Goztepe Prof. Dr. Suleyman Yalcin City Hospital, 34722 Istanbul, Turkey.
Alper GezdiriciDepartment of Medical Genetics, Basaksehir Cam and Sakura City Hospital, 34480 Istanbul, Turkey.
Paola BraghettaDepartment of Molecular Medicine, University of Padova, 35131 Padova, Italy.
Paolo BonaldoDepartment of Molecular Medicine, University of Padova, 35131 Padova, Italy.
Raimund WagenerDepartment of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Mats PaulssonDepartment of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Center for Musculoskeletal Biomechanics (CCMB), Medical Faculty and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany.
Helen BornaunDepartment of Pediatric Cardiology, Kanuni Sultan Suleyman Research and Training Hospital, 34303 Istanbul, Turkey.
Riet De RyckeDepartment of Biomedical Molecular Biology Ghent University, 9000 Ghent, Belgium; VIB Center for Inflammation Research and BioImaging Core, VIB, 9052 Ghent, Belgium.
Michiel De BruyneDepartment of Biomedical Molecular Biology Ghent University, 9000 Ghent, Belgium; VIB Center for Inflammation Research and BioImaging Core, VIB, 9052 Ghent, Belgium.
Femke BaekeDepartment of Biomedical Molecular Biology Ghent University, 9000 Ghent, Belgium; VIB Center for Inflammation Research and BioImaging Core, VIB, 9052 Ghent, Belgium.
Walter P DevineDepartment of Pathology, University of California San Francisco, San Francisco, CA 94115, USA.
Balram GangaramDivision of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA 94158, USA.
Allison TamDivision of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA 94158, USA.
Meena BalasubramanianHighly Specialised Osteogenesis Imperfecta Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield S10 2TH, UK; Department of Oncology and Metabolism, The University of Sheffield, Sheffield S10 2TN, UK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, UK.
Sian EllardExeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Sandra MooreExeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Sofie SymoensCenter for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.
Joseph ShenDivision of Genomic Medicine, Department of Pediatrics, MIND Institute, University of California Sacramento, Sacramento, CA 95817, USA.
Stacey ColeDivision of Genomic Medicine, Department of Pediatrics, MIND Institute, University of California Sacramento, Sacramento, CA 95817, USA.
Ulrike SchwarzeDepartments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, WA, USA.
Kathryn W HolmesDepartment of Pediatrics, Oregon Health & Science University, Portland, OR 97239, USA.
Susan J HayflickDepartment of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.
Wojciech WiszniewskiDepartment of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.
Sheela NampoothiriDepartment of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala 682041, India.
Elaine C DavisDepartment of Anatomy and Cell Biology, McGill University, Montreal, QC H3A 0C7, Canada.
Lynn Y SakaiDepartment of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.
Gerhard SengleDepartment of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Center for Musculoskeletal Biomechanics (CCMB), Medical Faculty and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany. Electronic address: gsengle@uni-koeln.de.
Bert CallewaertCenter for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium. Electronic address: bert.callewaert@ugent.be.
Ghent University Hospital · BEUniversity of Cologne · DEOregon Health & Science University · USGhent University · BEUniversity of California, San Francisco · USCalifornia State University, Sacramento · USGerman Sport University Cologne · DERoyal Devon & Exeter NHS Foundation Trust · GBShriners Hospitals for Children - Portland · USUniversity of Padua · ITAmrita Institute of Medical Sciences and Research Centre · INIstanbul Eye Hospital · TRİstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi · TRIstanbul Metropolitan Municipality · TRLund University · SEMcGill University · CAOita University · JPSheffield Children's NHS Foundation Trust · GBUniversity of Lübeck · DEUniversity of Washington Medical Center · US
Funding
No grant is acknowledged in the PubMed record.
Abstract
EMILIN1 (elastin-microfibril-interface-located-protein-1) is a structural component of the elastic fiber network and localizes to the interface between the fibrillin microfibril scaffold and the elastin core. How EMILIN1 contributes to connective tissue integrity is not fully understood. Here, we report bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, resembling autosomal-recessive cutis laxa type 1B, due to EFEMP2 (FBLN4) deficiency. In both humans and mice, absence of EMILIN1 impairs EFEMP2 extracellular matrix deposition and LOX activity resulting in impaired elastogenesis, reduced collagen crosslinking, and aberrant growth factor signaling. Collagen fiber ultrastructure and histopathology in EMILIN1- or EFEMP2-deficient skin and aorta corroborate these findings and murine Emilin1
Indexed as
Bone Diseases, MetabolicCutis LaxaAnimalsArteriesCollagenElastinExtracellular Matrix ProteinsHumansJoint InstabilityMembrane GlycoproteinsMiceSkin Diseases, GeneticVascular MalformationsCollagenElastinelastin microfibril interface located proteinExtracellular Matrix ProteinsMembrane Glycoproteinsaortic aneurysmarterial tortuositycollagencutis laxaEFEMP2elastic fiberEMILIN1extracellular matrixfractureLOX
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