Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.

No abstract is available for this paper.

• Publication year

  1993

• Venue

  Journal of Clinical Investigation

• Publication date

  1993-06-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1172/JCI116490PMID 8514866PMCID PMC443315
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.

  1992cited by this paper
• Dissecting aortic aneurysm as a complication of generalized fibromuscular dysplasia.

  1992cited by this paper
• Abnormalities in the biosynthesis of type III procollagen in cultured skin fibroblasts from two patients with multiple aneurysms.

  1992cited by this paper
• The defect in Marfan syndrome

  1991cited by this paper
• Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

  1991cited by this paper
• C to T polymorphism in exon 33 of the COL3A1 gene.

  1991cited by this paper
• Ultrasound screening of first-degree relatives of patients with an abdominal aortic aneurysm.

  1991cited by this paper
• Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say.

  1991cited by this paper
• Decreased tissue inhibitor of metalloproteinases (TIMP) in abdominal aortic aneurysm tissue: a preliminary report.

  1991cited by this paper
• Mutations in collagen genes: causes of rare and some common diseases in humans

  1991cited by this paper
• Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

  1991cited by this paper
• On the inheritance of abdominal aortic aneurysm.

  1991cited by this paper
• G to A polymorphism in exon 31 of the COL3A1 gene.

  1990cited by this paper
• A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.

  1990cited by this paper
• Longitudinal retractive force in pressurized dog and human arteries.

  1990cited by this paper
• Mutations that alter the primary structure of type I collagen. The perils of a system for generating large structures by the principle of nucleated growth.

  1990cited by this paper
• Alpha 1-antitrypsin phenotypes in patients with abdominal aortic aneurysms.

  1990cited by this paper
• Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.

  1990cited by this paper
• Ultrasonographic screening of the abdominal aorta among siblings of patients with abdominal aortic aneurysms

  1989cited by this paper
• Incidence and etiology of abdominal aortic aneurysms.

  1989cited by this paper
• Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences.

  1989cited by this paper
• A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV.

  1989cited by this paper
• Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.

  1989cited by this paper
• Are familial abdominal aortic aneurysms different?

  1989cited by this paper
• Abdominal aortic aneurysm: consequences of a positive family history.

  1989cited by this paper
• Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation.

  1988cited by this paper
• Familial Abdominal Aortic Aneurysms

  1988cited by this paper
• Collagen in abdominal aortic aneurysm: typing, content, and degradation.

  1987cited by this paper
• Multifactorial inheritance of abdominal aortic aneurysm.

  1987cited by this paper
• Familial tendency for abdominal aortic aneurysms.

  1986cited by this paper
• Human type III collagen gene expression is coordinately modulated with the type I collagen genes during fibroblast growth.

  1986cited by this paper
• Ehlers-Danlos syndrome.

  1985cited by this paper
• Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

  1985cited by this paper
• Isolation of cDNA and genomic clones encoding human pro-alpha 1 (III) collagen. Partial characterization of the 3' end region of the gene.

  1985cited by this paper
• Molecular cloning and carboxyl-propeptide analysis of human type III procollagen.

  1984cited by this paper
• Human genetics of the abdominal aortic aneurysm.

  1984cited by this paper
• Fifty families with abdominal aortic aneurysms in two or more first-order relatives.

  1984cited by this paper
• Familial occurrence of abdominal aortic aneurysms.

  1984cited by this paper
• Blood elastolytic activity in patients with aortic aneurysm.

  1982cited by this paper
• Collagenase activity of the human aorta. A comparison of patients with and without abdominal aortic aneurysms.

  1980cited by this paper
• DNA sequencing with chain-terminating inhibitors.

  1977cited by this paper
• Familial abdominal aortic aneurysms

  1977cited by this paper
• Heritable Disorders of Connective Tissue

  1960cited by this paper

• Comparison of Genes Associated with Thoracic and Abdominal Aortic Aneurysms

  2022cites this paper
• Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

  2019cites this paper
• Missense mutations in COL4A5 or COL4A6 genes may cause cerebrovascular fibromuscular dysplasia

  2018cites this paper
• Genetics of pelvic organ prolapse: from families to biology

  2017influential citation
• Ehlers-Danlos syndrome type IV is associated with a novel G 984 R COL 3 A 1 mutation

  2015cites this paper
• Ehlers-Danlos syndrome type IV is associated with a novel G984R COL3A1 mutation.

  2015cites this paper
• Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting.

  2015cites this paper
• Early venous manifestation of Ehlers-Danlos syndrome Type IV through a novel mutation in COL3A1.

  2013cites this paper
• Bicuspid aortic valve and associated aortopathy: a combined biomechanics, histological and genetic analysis

  2013cites this paper
• Genetics of abdominal aortic aneurysm

  2013cites this paper
• The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD).

  2013cites this paper
• The Aetiology of Vascular Disease

  2012cites this paper
• Successful coronary artery bypass in Ehlers-Danlos type IV syndrome case report and review of the literature.

  2012cites this paper
• Gènes et anévrysmes de l’aorte abdominale

  2011cites this paper
• Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19

  2011cites this paper
• Familial Thoracic Aortic Aneurysms and Dissections: Identification of a Novel Locus for Stable Aneurysms With a Low Risk for Progression to Aortic Dissection

  2011cites this paper
• Multiple spontaneous coronary artery ruptures and cardiac tamponade in vascular Ehlers-Danlos syndrome.

  2011cites this paper
• Genes and abdominal aortic aneurysm.

  2011cites this paper
• Towards An Understanding Of The Etiology Of Abdominal Aortic Aneurysms: Identification Of Genes Implicated In Aaa Risk And Development

  2010cites this paper
• Molecular Genetics and Prenatal Diagnosis

  2010cites this paper
• Pathology of Iliac and Lower Extremity Artery Disease

  2010cites this paper
• @bullet @bullet @bullet 43rd Annual Diagnostic Slide Session, 2002 References and Diagnoses

  2009cites this paper
• chapter 27 – Pathogenesis of Aortic Aneurysms

  2009cites this paper
• COL3A1 2209G>A is a predictor of pelvic organ prolapse

  2009cites this paper
• [Analysis of tissue inhibitor of metalloproteinase-2 gene polymorphisms in a caucasian population with abdominal aortic aneurysms].

  2008cites this paper
• A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections

  2008cites this paper
• Ehlers-Danlos syndrome type IV with gastric adenocarcinoma.

  2008cites this paper
• Analyse von Genvarianten des Gewebeinhibitors der Metalloproteinase-2 (TIMP-2) bei Patienten mit abdominalem Aortenaneurysma

  2008cites this paper
• Etiology of Abdominal Aortic Aneurysms

  2008cites this paper
• Tissue Inhibitor of Metalloproteinase-1 (TIMP-1) Polymorphisms in a Caucasian Population with Abdominal Aortic Aneurysm

  2007cites this paper
• Abdominal Aortic Aneurysm Is a Specific Antigen‐Driven T Cell Disease

  2006cites this paper
• Matrix metalloproteinase 2 polymorphisms in a caucasian population with abdominal aortic aneurysm.

  2006influential citation
• The molecular genetics of Marfan syndrome and related disorders

  2006cites this paper
• An investigation into the cytokine expression profile of the abdominal aortic aneurysm wall.

  2006cites this paper
• Comments, Opinions, and Reviews Neurovascular Manifestations of Heritable Connective Tissue Disorders

  2005cites this paper
• Genome-wide linkage in three Dutch families maps a locus for abdominal aortic aneurysms to chromosome 19q13.3.

  2005cites this paper
• The pathobiology of aortic aneurysms.

  2004cites this paper
• Elevated Expression of Matrix Metalloproteinase-13 in Abdominal Aortic Aneurysms

  2004cites this paper
• Familial clustering of abdominal aortic aneurysm—smoke signals, but no culprit genes

  2003cites this paper
• Two Decades of Research on Etiology and Genetic Factors in the Abdominal Aortic Aneurysm (AAA) - with a Glimpse into the 21st Century

  2003cites this paper
• [Aortic aneurysms excluding Marfan's syndrome].

  2003cites this paper
• Familial abdominal aortic aneurysms: collection of 233 multiplex families.

  2003cites this paper
• A Family with Abdominal Aortic Aneurysms

  2003cites this paper
• Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene

  2002cites this paper
• Abdominal aortic aneurysms: basic mechanisms and clinical implications.

  2002cites this paper
• Familial abdominal aortic aneurysm: a systematic review of a genetic background.

  2002cites this paper
• Reflections on the Pathogenesis of Abdominal Aortic Aneurysms

  2002cites this paper
• Ehlers–Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis

  2001cites this paper
• PDFlib PLOP: PDF Linearization, Optimization, Protection Page inserted by evaluation version

  2001cites this paper
• PDFlib PLOP: PDF Linearization, Optimization, Protection Page inserted by evaluation version

  2001cites this paper
• PDFlib PLOP: PDF Linearization, Optimization, Protection Page inserted by evaluation version

  2001cites this paper
• Identification of a Chromosome 11q23.2-q24 Locus for Familial Aortic Aneurysm Disease, a Genetically Heterogeneous Disorder

  2001cites this paper
• Polymorphisms in Matrix Metalloproteinase-1, -3, -9, and -12 Genes in Relation to Subarachnoid Hemorrhage

  2001cites this paper
• Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes.

  2001cites this paper
• Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

  2001cites this paper
• Familial Abdominal Aortic Aneurysms in the Otago Region of New Zealand

  2001cites this paper
• The role of type III collagen in family members of patients with abdominal aortic aneurysms.

  2000cites this paper
• Ehlers-Danlos syndrome.

  2000cites this paper
• Association of the 4G/5G polymorphism in the promoter region of plasminogen activator inhibitor-1 with abdominal aortic aneurysms.

  2000cites this paper
• New perspectives in abdominal aortic aneurysm management

  2000cites this paper
• Inherited disorders of the aorta

  1999cites this paper
• Genetic analysis of MMP3, MMP9, and PAI-1 in Finnish patients with abdominal aortic or intracranial aneurysms.

  1999cites this paper
• The MMP-2/MT1-MMP/TIMP-2 enzyme system in abdominal aortic aneurysm disease

  1999cites this paper
• Analysis of coding sequences for tissue inhibitor of metalloproteinases 1 (TIMP1) and 2 (TIMP2) in patients with aneurysms.

  1999cites this paper
• Genetic diseases of the extracellular matrix: more than just connective tissue disorders

  1998cites this paper
• Expression and localization of macrophage elastase (matrix metalloproteinase-12) in abdominal aortic aneurysms.

  1998cites this paper
• The Human Collagen Mutation Database 1998

  1998cites this paper
• Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities.

  1998cites this paper
• Molecular Diagnostics for Cardiovascular Disease

  1998cites this paper
• Aortic aneurysm formation: lessons from human studies and experimental models.

  1998cites this paper
• Fibulin-2 exhibits high degree of variability, but no structural changes concordant with abdominal aortic aneurysms

  1998cites this paper
• Abdominal aortic aneurysm.

  1997cites this paper
• Mutations in fibrillar collagens (types I, II, III, and XI), fibril‐associated collagen (type IX), and network‐forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

  1997cites this paper
• A glycine (415)‐to‐serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers‐Danlos syndrome type IV

  1997cites this paper
• Decreased vascular smooth muscle cell density in medial degeneration of human abdominal aortic aneurysms.

  1997cites this paper
• Unrestricted usage of immunoglobulin heavy chain genes in B cells infiltrating the wall of atherosclerotic abdominal aortic aneurysms.

  1997cites this paper
• Ehlers-Danlos syndrome has varied molecular mechanisms.

  1997cites this paper
• The cholesteryl ester transfer protein (CETP) locus as a candidate gene in abdominal aortic aneurysm

  1997cites this paper
• Pathogenesis of Abdominal Aortic Aneurysm: An Update and Look toward the Future

  1997cites this paper
• [Abdominal aortic aneurysms: contribution of genetics. From atheromatous theory to parietal theory].

  1997cites this paper
• Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.

  1997cites this paper
• Cellular Components and Features of Immune Response in Abdominal Aortic Aneurysms a

  1996cites this paper
• A Genetic Basis for Autoimmune Manifestations in the Abdominal Aortic Aneurysm Resides in the MHC Class II Locus DR‐beta‐1 a

  1996cites this paper
• Role of Matrix Metalloproteinases in Abdominal Aortic Aneurysms a

  1996cites this paper
• Candidate Genes for Abdominal Aortic Aneurysms a

  1996cites this paper
• Interaction between Fibrillin Genotype and Blood Pressure and the Development of Aneurysmal Disease a

  1996cites this paper
• [Collagens in intestinal smooth muscles].

  1996cites this paper
• A clinicopathological study of familial abdominal aortic aneurysms.

  1996cites this paper
• Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.

  1996cites this paper
• Genetic Aspects of Abdominal Aortic Aneurysm

  1996cites this paper
• Pathogenesis of abdominal aortic aneurysms--cellular and biochemical mechanisms.

  1996cites this paper
• Direct sequencing of PCR products derived from cDNAs for the proα1 and proα2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta

  1996cites this paper
• Giant intracranial aneurysms in two sisters: case report.

  1996cites this paper
• Ehlers‐Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Glyl003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation

  1996cites this paper
• Molecular Genetic Insights into Cardiovascular Disease

  1996cites this paper
• Basic science of abdominal aortic aneurysms: emerging therapeutic strategies for an unresolved clinical problem.

  1996cites this paper
• Multiple Defects in Type III Collagen Synthesis Are Associated with the Pathogenesis of Abdominal Aortic Aneurysms a

  1996cites this paper
• Inherited diseases of the vasculature.

  1996cites this paper
• Familial aorto-cervicocephalic arterial dissections and congenitally bicuspid aortic valve.

  1995cites this paper
• The morphology of elastin in non-specific and inflammatory abdominal aortic aneurysms. A comparative transmission, scanning and immunoelectronmicroscopy study.

  1995cites this paper