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Journal Article
Arteriosclerosis, Thrombosis, and Vascular Biology, ISSN 1079-5642, 03/2018, Volume 38, Issue 3, pp. 588 - 591
OBJECTIVE—Two were the aims of this studyfirst, to translate whole-genome expression profiles into computational predictions of functional associations between... 
Homeostasis | Fibrillin-1 | Endothelial cells | Marfan syndrome | Aneurysm
Journal Article
Journal of Thoracic and Cardiovascular Surgery, ISSN 0022-5223, 2019
Objective: Marfan syndrome (MFS) represents a genetic disorder with a range of clinical features, including proximal aortic aneurysms. Extensive research has... 
Smad2 | p38 | fibrillin-1 | cardiomyopathy | Marfan syndrome | aortopathy | Erk
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 81, Issue 3, pp. 454 - 466
Journal Article
Arteriosclerosis, Thrombosis, and Vascular Biology, ISSN 1079-5642, 06/2017, Volume 37, Issue 8, pp. 1559 - 1569
OBJECTIVE—We determined in patients with pulmonary arterial (PA) hypertension (PAH) whether in addition to increased production of elastase by PA smooth muscle... 
smooth muscle cells | TGF-beta-1 | fibroblasts | BMPR2 receptor | hypertension, pulmonary | fibrillin-1 | elastin | BMPR2 | ENDOTHELIAL DYSFUNCTION | FIBRILLIN | IN-VITRO | GENE | MARFAN-SYNDROME | PERIPHERAL VASCULAR DISEASE | SMOOTH-MUSCLE-CELLS | MICE | MUTATIONS | HEMATOLOGY | EXPRESSION | Vascular Remodeling | Humans | Myocytes, Smooth Muscle - pathology | Hypertension, Pulmonary - physiopathology | Mice, 129 Strain | Case-Control Studies | Familial Primary Pulmonary Hypertension - metabolism | Familial Primary Pulmonary Hypertension - physiopathology | Elastic Tissue - metabolism | Pulmonary Artery - metabolism | Transfection | RNA Interference | Bone Morphogenetic Protein Receptors, Type I - deficiency | Fibrillin-1 - metabolism | Fibrillin-1 - genetics | Myocytes, Smooth Muscle - drug effects | Myocytes, Smooth Muscle - metabolism | Disease Models, Animal | Fibroblasts - metabolism | Familial Primary Pulmonary Hypertension - pathology | Elastin - metabolism | Genetic Predisposition to Disease | Bone Morphogenetic Protein Receptors, Type II - genetics | Mice, Inbred C57BL | Bone Morphogenetic Protein Receptors, Type II - deficiency | Cells, Cultured | Bone Morphogenetic Protein Receptors, Type I - genetics | Familial Primary Pulmonary Hypertension - genetics | Hypertension, Pulmonary - genetics | Hypertension, Pulmonary - metabolism | Pulmonary Artery - physiopathology | Elastic Tissue - physiopathology | Pulmonary Artery - drug effects | Fibroblasts - pathology | Bone Morphogenetic Protein 4 - pharmacology | Bone Morphogenetic Protein Receptors, Type II - metabolism | Mice, Knockout | Elastic Tissue - pathology | Transforming Growth Factor beta - pharmacology | Phenotype | Animals | Elastin - genetics | Fibroblasts - drug effects | Mutation | Hypertension, Pulmonary - pathology | Pulmonary Artery - pathology
Journal Article
Clinical Genetics, ISSN 0009-9163, 01/2015, Volume 87, Issue 1, pp. 11 - 20
Cardiovascular abnormalities are the major cause of morbidity and mortality in Marfan syndrome (MFS) and a few clinically related diseases that share, with... 
thoracic and abdominal aortic aneurysm | angiotensin receptor blockers (ARBs) | calcium channel blockers | connective tissue | mutations in gene for fibrillin‐1 (FBN1) | Ghent nosology | TGFβ | β‐blockers | cardiomyopathy | valvulopathy | Marfan syndrome (MFS) | Connective tissue | Thoracic and abdominal aortic aneurysm | Cardiomyopathy | Calcium channel blockers | Mutations in gene for fibrillin-1 (FBN1) | Valvulopathy | Angiotensin receptor blockers (ARBs) | β-blockers | LOEYS-DIETZ SYNDROME | SIGNIFICANT VALVULAR REGURGITATION | MITRAL-VALVE-PROLAPSE | SYSTOLIC FUNCTION | THORACIC AORTIC-ANEURYSM | TGF | FIBRILLIN-1 FRAGMENT | SYNDROME MICE | mutations in gene for fibrillin-1 (FBN1) | MOUSE MODEL | GENETICS & HEREDITY | blockers | EXTRACELLULAR-MATRIX | LEFT-VENTRICULAR FUNCTION | Arachnodactyly - physiopathology | Aortic Aneurysm, Thoracic - genetics | Fibrillin-1 | Craniosynostoses - genetics | Humans | Cardiovascular Abnormalities - genetics | Fibrillins | Marfan Syndrome - physiopathology | Signal Transduction - genetics | Craniosynostoses - physiopathology | Loeys-Dietz Syndrome - physiopathology | Aortic Aneurysm, Thoracic - physiopathology | Marfan Syndrome - genetics | Marfan Syndrome - therapy | Animals | Cardiovascular Abnormalities - physiopathology | Arachnodactyly - genetics | Transforming Growth Factor beta - antagonists & inhibitors | Loeys-Dietz Syndrome - genetics | Mice | Microfilament Proteins - genetics | Transforming Growth Factor beta - metabolism | Calcium channels | Analysis | Genes | Aneurysms | Genetic aspects | Transforming growth factors | Osteoarthritis | Marfan syndrome | Cardiovascular disease | Gene therapy | Mortality
Journal Article
Advanced Drug Delivery Reviews, ISSN 0169-409X, 2018
Supramolecular networks composed of multi-domain ECM proteins represent intricate cellular microenvironments which are required to balance tissue homeostasis... 
Tight-skin | TGF-β | Fibrillin-1 | Matrix metalloproteinases | Fibrosis | Acromelic dysplasias
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2017, Volume 12, Issue 7, p. e0181166
Background Sex-related differences as well as the adverse effect of pregnancy on aortic disease outcome are well-established phenomena in humans with Marfan... 
WOMEN | MULTIDISCIPLINARY SCIENCES | IN-VIVO | GROWTH | FIBRILLIN-1 | ESTROGEN | COMPLICATIONS | MICE | ANEURYSM | TGFBR2 MUTATIONS | LEFT-VENTRICULAR FUNCTION | Humans | Male | Estrogens - analysis | Young Adult | Adult | Female | Fibrillin-1 - metabolism | Fibrillin-1 - genetics | Marfan Syndrome - complications | Retrospective Studies | Transforming Growth Factor beta1 - analysis | Myocytes, Smooth Muscle - drug effects | Myocytes, Smooth Muscle - cytology | Myocytes, Smooth Muscle - metabolism | Estradiol - pharmacology | Aortic Diseases - pathology | Disease Models, Animal | Aorta - diagnostic imaging | Mice, Inbred C57BL | Aorta - pathology | Pregnancy | Animals | Sex Factors | Aortic Diseases - complications | Marfan Syndrome - pathology | Mice | Aorta - physiology | Women | Research | Health aspects | Marfan syndrome | Marfan's syndrome | Cardiomyopathy | Estrogens | Sex | Aneurysms | 17β-Estradiol | Lamellae | Smooth muscle | Biochemistry | Fibrillin | Males | Rodents | Surgery | Fibroblasts | Aorta | Physiology | Dissection | Stretching | Cardiovascular system | Hypertension | Sex differences | Protein biosynthesis | Patients | Thrombosis | Abdomen | Studies | Sex hormones | Hospitals | Protein synthesis | Womens health | Arteriosclerosis | Coronary vessels | Men | Phenotyping | Mutation | Females | Molecular biology | In vitro methods and tests
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 07/2019, Volume 64, Issue 7, pp. 681 - 687
Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including... 
FIBRILLIN-1 | VARIANTS | INTERACTS | GENETICS & HEREDITY
Journal Article
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, ISSN 1079-5642, 03/2018, Volume 38, Issue 3, pp. 588 - 591
Objective Two were the aims of this study: first, to translate whole-genome expression profiles into computational predictions of functional associations... 
aneurysm | homeostasis | endothelial cells | MARFAN-SYNDROME | PERIPHERAL VASCULAR DISEASE | MICE | fibrillin-1 | HEMATOLOGY | Marfan syndrome | PROGRESSION
Journal Article
ISSN 2041-1723, 2018
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 11/2017, Volume 474, pp. 54 - 59
A mutation in is primarily attributed to Marfan syndrome (MFS). So far, > 1800 unique mutations have been identified, with the vast majority being... 
Phenotype | MLPA | Gross deletion | Marfan syndrome | FBN1 | FIBRILLIN | MUTATIONS | MEDICAL LABORATORY TECHNOLOGY | Fibrillin-1 - deficiency | Gene Deletion | Humans | Exons - genetics | Female |