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by Iglesias, Adriana I and Mishra, Aniket and Vitart, Veronique and Bykhovskaya, Yelena and Höhn, René and Springelkamp, Henriët and Cuellar-Partida, Gabriel and Gharahkhani, Puya and Bailey, Jessica N. Cooke and Willoughby, Colin E and Li, Xiaohui and Yazar, Seyhan and Nag, Abhishek and Khawaja, Anthony P and Polašek, Ozren and Siscovick, David and Mitchell, Paul and Tham, Yih Chung and Haines, Jonathan L and Kearns, Lisa S and Hayward, Caroline and Shi, Yuan and Van Leeuwen, Elisabeth M and Taylor, Kent D and Wang, Jie Jin and Rochtchina, Elena and Attia, John and Scott, Rodney and Holliday, Elizabeth G and Baird, Paul N and Xie, Jing and Inouye, Michael and Viswanathan, Ananth and Sim, Xueling and Bonnemaijer, Pieter and Rotter, Jerome I and Martin, Nicholas G and Zeller, Tanja and Mills, Richard A and Staffieri, Sandra E and Jonas, Jost B and Schmidtmann, Irene and Boutin, Thibaud and Kang, Jae H and Lucas, Sionne E. M and Wong, Tien Yin and Beutel, Manfred E and Wilson, James F and Allingham, R. Rand and Brilliant, Murray H and Budenz, Donald L and Christen, William G and Fingert, John and Friedman, David S and Gaasterland, Douglas and Gaasterland, Terry and Hauser, Michael A and Kraft, Peter and Lee, Richard K and Lichter, Paul R and Liu, Yutao and Loomis, Stephanie J and Moroi, Sayoko E and Pericak-Vance, Margaret A and Realini, Anthony and Richards, Julia E and Schuman, Joel S and Scott, William K and Singh, Kuldev and Sit, Arthur J and Vollrath, Douglas and Weinreb, Robert N and Wollstein, Gadi and Zack, Donald J and Zhang, Kang and Donnelly, Peter and Barroso, Ines and Blackwell, Jenefer M and Bramon, Elvira and Brown, Matthew A and Casas, Juan P and Corvin, Aiden and Deloukas, Panos and Duncanson, Audrey and Jankowski, Janusz and Markus, Hugh S and Mathew, Christopher G and Palmer, Colin N. A and Plomin, Robert and Rautanen, Anna and Sawcer, Stephen J and Trembath, Richard C and Wood, Nicholas W and Spencer, Chris C. A and Band, Gavin and Bellenguez, Céline and Freeman, Colin and Hellenthal, Garrett and Giannoulatou, Eleni and Pirinen, Matti and ... and Blue Mountains Eye Study-GWAS Grp and NEIGHBORHOOD Consortium and Wellcome Trust Case Control Consor and Blue Mountains Eye Study—GWAS group and Wellcome Trust Case Control Consortium 2 (WTCCC2)
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1 - 11
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide... 
DECORIN | CHROMATIN STATES | POLYMORPHISMS | RISK-FACTOR | MULTIDISCIPLINARY SCIENCES | MOUSE | GENE-EXPRESSION | MUTATIONS | HERITABILITY | LUMICAN | KERATOCONUS | Glaucoma | Cornea | Genes | Myopia | Association analysis | Genomes | Gene expression | Tissues | Connective tissues | Keratoconus | Collagen | Eye diseases | Extracellular matrix | Index Medicus
Journal Article
Nature communications, ISSN 2041-1723, 05/2018, Volume 9, Issue 1, p. 1864
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide... 
Lumican - metabolism | Glaucoma, Open-Angle - genetics | Humans | Corneal Diseases - metabolism | Corneal Dystrophies, Hereditary - ethnology | Corneal Diseases - genetics | Ehlers-Danlos Syndrome - genetics | Corneal Dystrophies, Hereditary - pathology | Loeys-Dietz Syndrome - metabolism | Mendelian Randomization Analysis | Fibrillin-1 - metabolism | Cornea - pathology | Keratoconus - pathology | Corneal Diseases - pathology | Decorin - genetics | Gene Expression | Eye Diseases, Hereditary - pathology | Lumican - genetics | ADAMTS Proteins - metabolism | Proteoglycans - metabolism | Ehlers-Danlos Syndrome - ethnology | European Continental Ancestry Group | Myopia - pathology | Cornea - metabolism | Myopia - ethnology | Loeys-Dietz Syndrome - pathology | Corneal Diseases - ethnology | Marfan Syndrome - metabolism | Marfan Syndrome - pathology | Cornea - abnormalities | Quantitative Trait Loci | Proteoglycans - genetics | ADAMTS Proteins - genetics | Transforming Growth Factor beta2 - metabolism | Corneal Dystrophies, Hereditary - genetics | Glaucoma, Open-Angle - pathology | Keratoconus - metabolism | Loeys-Dietz Syndrome - ethnology | Glaucoma, Open-Angle - ethnology | Myopia - metabolism | Ehlers-Danlos Syndrome - pathology | Marfan Syndrome - ethnology | Keratoconus - genetics | Glaucoma, Open-Angle - metabolism | Fibrillin-1 - genetics | Eye Diseases, Hereditary - ethnology | Genome-Wide Association Study | Quantitative Trait, Heritable | Corneal Dystrophies, Hereditary - metabolism | Marfan Syndrome - genetics | Eye Diseases, Hereditary - genetics | Myopia - genetics | Asian Continental Ancestry Group | Keratoconus - ethnology | Ehlers-Danlos Syndrome - metabolism | Loeys-Dietz Syndrome - genetics | Polymorphism, Single Nucleotide | Transforming Growth Factor beta2 - genetics | Genome, Human | Decorin - metabolism | Eye Diseases, Hereditary - metabolism | Cornea | Decorin | Corneal Dystrophies, Hereditary | Myopia | Corneal Diseases | Marfan Syndrome | Keratoconus | ADAMTS Proteins | Lumican | Transforming Growth Factor beta2 | Ehlers-Danlos Syndrome | Glaucoma, Open-Angle | Fibrillin-1 | Eye Diseases, Hereditary | Proteoglycans | Wellcome Trust Case Control Consortium 2 (WTCCC2) | Blue Mountains Eye Study—GWAS group | Loeys-Dietz Syndrome | NEIGHBORHOOD Consortium
Journal Article
Journal of Cell Science, ISSN 0021-9533, 01/2014, Volume 127, Issue 1, pp. 158 - 171
Here, we show that epithelial-mesenchymal status influences how cells deposit extracellular matrix. Retinal pigmented epithelial (RPE) cells that expressed... 
Fibrillin-1 | Cell-cell junction | Integrin | Perlecan | Epithelial cell | Mesenchymal cell | Fibronectin | Syndecan | FOCAL ADHESION FORMATION | ACTIVATION | SYNDECAN-4 | FIBRONECTIN EXTRACELLULAR-MATRIX | LATENT TGF-BETA | CELL BIOLOGY | TRANSITION | EVOLUTION | HEPARAN-SULFATE | BINDING-SITES | Retinal Pigment Epithelium - metabolism | Epithelial Cells - metabolism | Cadherins - metabolism | Humans | Syndecan-4 - genetics | Actins - metabolism | Integrins - genetics | Epithelial-Mesenchymal Transition - genetics | Mammary Glands, Human - metabolism | Fibroblasts - ultrastructure | Heparitin Sulfate - metabolism | Integrins - metabolism | Actins - genetics | Actomyosin - genetics | Retinal Pigment Epithelium - ultrastructure | Female | Microfilament Proteins - metabolism | Zonula Occludens-1 Protein - metabolism | Cadherins - genetics | Microfilament Proteins - genetics | Fibroblasts - metabolism | Microfibrils - ultrastructure | Zonula Occludens-1 Protein - genetics | Cell Line | Podocytes - metabolism | Syndecan-4 - metabolism | Gene Expression Regulation | Intercellular Junctions - metabolism | Epithelial Cells - ultrastructure | Fibrillins | Organ Specificity | Actomyosin - metabolism | beta Catenin - metabolism | Fibronectins - metabolism | beta Catenin - genetics | Transforming Growth Factor beta - pharmacology | Podocytes - ultrastructure | Mammary Glands, Human - ultrastructure | Fibronectins - genetics | Intercellular Junctions - ultrastructure | Microfibrils - metabolism | Index Medicus | Cell–cell junction
Journal Article
Experimental Dermatology, ISSN 0906-6705, 07/2008, Volume 17, Issue 7, pp. 592 - 609
Journal Article
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 07/2015, Volume 1852, Issue 7, pp. 1451 - 1464
Excessive extracellular matrix deposition progressively replacing muscle fibres is the endpoint of most severe muscle diseases. Recent data indicate major... 
MiR-21 | mdx mouse | Duchenne muscular dystrophy | Fibrosis | Myoblast | MiR-29 | Fibroblast | Mdx mouse | COLLAGEN | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUSCLE | PTEN | FIBROBLASTS | PATHOGENESIS | BIOPHYSICS | TRANSFORMING GROWTH-FACTOR-BETA-1 | THERAPEUTIC TARGET | EXTRACELLULAR-MATRIX | EXPRESSION | MICRORNA | Humans | Collagen Type VI - metabolism | Child, Preschool | Infant | YY1 Transcription Factor - metabolism | Fibrosis - metabolism | Phosphoproteins - metabolism | RNA, Messenger - metabolism | Case-Control Studies | Collagen Type VI - genetics | Myoblasts - metabolism | Collagen Type I - genetics | Mice, Inbred mdx | Membrane Proteins - metabolism | Microfilament Proteins - metabolism | Child | Microfilament Proteins - genetics | Fibroblasts - metabolism | PTEN Phosphohydrolase - genetics | Fibrillin-1 | Fibrosis - genetics | Collagen Type I - metabolism | Membrane Proteins - genetics | RNA, Messenger - genetics | Cells, Cultured | PTEN Phosphohydrolase - metabolism | Fibrillins | Muscular Dystrophy, Duchenne - pathology | Phosphoproteins - genetics | YY1 Transcription Factor - genetics | Animals | Adaptor Proteins, Signal Transducing - genetics | Mice | MicroRNAs - genetics | Muscular Dystrophy, Duchenne - metabolism | Muscular Dystrophy, Duchenne - genetics | Adaptor Proteins, Signal Transducing - metabolism | Transforming growth factors | Collagen
Journal Article
CARDIOVASCULAR RESEARCH, ISSN 0008-6363, 01/2017, Volume 113, Issue 1, pp. 40 - 51
Aims Myxomatous valve disease (MVD) is the most common aetiology of primary mitral regurgitation. Recent studies suggest that defects in heart valve... 
CARDIAC & CARDIOVASCULAR SYSTEMS | MOUSE | ECM remodelling | BETA-CATENIN | INTERSTITIAL-CELLS | Wnt/beta-catenin signalling | PATHOGENESIS | ORGANIZATION | Myxomatous valve disease | MARFAN-SYNDROME | Heart valve development | Axin2 | EXTRACELLULAR-MATRIX | DIFFERENTIATION | MITRAL-VALVE | UP-REGULATION | Axin Protein - deficiency | Cell Proliferation | Axin Protein - genetics | Aortic Valve - abnormalities | Extracellular Matrix - metabolism | Mitral Valve - metabolism | Mitral Valve - physiopathology | Mitral Valve Insufficiency - genetics | Morphogenesis | Heart Defects, Congenital - genetics | Bone Morphogenetic Proteins - metabolism | Gene Expression Regulation, Developmental | Fibrillin-1 - metabolism | Fibrillin-1 - genetics | Wnt Signaling Pathway | SOX9 Transcription Factor - metabolism | Aortic Valve Insufficiency - metabolism | Genetic Predisposition to Disease | Heart Defects, Congenital - pathology | Aortic Valve - physiopathology | Aortic Valve Insufficiency - physiopathology | Aortic Valve Insufficiency - pathology | Aggrecans - metabolism | Aortic Valve - metabolism | Marfan Syndrome - genetics | Mice, Knockout | Collagen - metabolism | Mitral Valve Insufficiency - pathology | Phenotype | Animals | Marfan Syndrome - metabolism | Marfan Syndrome - pathology | Heart Defects, Congenital - metabolism | Heart Defects, Congenital - physiopathology | Mutation | Extracellular Matrix - pathology | Mitral Valve Insufficiency - physiopathology | SOX9 Transcription Factor - genetics | Mitral Valve - abnormalities | Mitral Valve Insufficiency - metabolism | Index Medicus | β-catenin signalling | Original | Axin2 • Heart valve development • Myxomatous valve disease • ECM remodelling • Wnt
Journal Article
Circulation Research, ISSN 0009-7330, 01/2012, Volume 110, Issue 2, pp. 312 - 324
RATIONALE:Marfan syndrome (MFS) is a systemic connective tissue disorder notable for the development of aortic root aneurysms and the subsequent... 
aneurysm | apoptosis | microRNA | extracellular matrix | Marfan syndrome | FIBROSIS | KAPPA-B ACTIVATION | CARDIAC & CARDIOVASCULAR SYSTEMS | AORTIC-ANEURYSM | KINASE | FAILURE | MICRORNA EXPRESSION SIGNATURE | INFLAMMATION | METALLOPROTEINASE SECRETION | PERIPHERAL VASCULAR DISEASE | HEMATOLOGY | REVEALS | Up-Regulation | Age Factors | Aortic Aneurysm - metabolism | Male | MicroRNAs - metabolism | NF-kappa B - metabolism | Aorta - metabolism | Angiotensin II Type 1 Receptor Blockers - pharmacology | Marfan Syndrome - therapy | Female | Marfan Syndrome - complications | Microfilament Proteins - metabolism | Aortic Aneurysm - pathology | Microfilament Proteins - genetics | Real-Time Polymerase Chain Reaction | Aortic Aneurysm - prevention & control | Disease Models, Animal | Elastin - metabolism | Fibrillin-1 | Matrix Metalloproteinase 2 - metabolism | Mice, Inbred C57BL | Cells, Cultured | Losartan - pharmacology | Fibrillins | Mice, Transgenic | Reverse Transcriptase Polymerase Chain Reaction | Marfan Syndrome - genetics | Apoptosis Regulatory Proteins - metabolism | Aorta - pathology | Animals | Elastin - genetics | Marfan Syndrome - metabolism | Marfan Syndrome - pathology | Oligonucleotides, Antisense - administration & dosage | Mice | MicroRNAs - genetics | Aortic Aneurysm - genetics | Transforming Growth Factor beta - metabolism | Apoptosis | Genetic Therapy - methods | Index Medicus
Journal Article
Journal Article
Journal of the American Heart Association, ISSN 2047-9980, 02/2014, Volume 3, Issue 1, pp. e000476 - n/a
Background-Development of thoracic aortic aneurysms is the most significant clinical phenotype in patients with Marfan syndrome. An inflammatory response has... 
thoracic aortic aneurysms and dissections | mgR | vascular inflammation | arfan syndrome | interleukin‐6 | matrix metalloproteinases | extracellular matrix | Matrix metalloproteinases | Thoracic aortic aneurysms and dissections | Extracellular matrix | MgR | Vascular inflammation | Marfan syndrome | Interleukin-6 | CELLS | ACTIVATION | CARDIAC & CARDIOVASCULAR SYSTEMS | MICROSCOPY | interleukin-6 | PATHOGENESIS | 2ND-HARMONIC GENERATION | ARTERIAL-WALL | MICE | ANEURYSM | EXPRESSION | Up-Regulation | Aortic Aneurysm, Thoracic - genetics | Granulocyte-Macrophage Colony-Stimulating Factor - metabolism | Aortic Aneurysm, Thoracic - prevention & control | Extracellular Matrix - metabolism | Aorta - metabolism | Aortic Rupture - metabolism | RNA, Messenger - metabolism | Matrix Metalloproteinase 9 - metabolism | Aortic Aneurysm, Thoracic - pathology | Time Factors | Chemokine CCL2 - metabolism | Marfan Syndrome - complications | Microfilament Proteins - metabolism | Dilatation, Pathologic | Interleukin-6 - metabolism | Microfilament Proteins - genetics | STAT3 Transcription Factor - metabolism | Disease Models, Animal | Severity of Illness Index | Elastin - metabolism | Fibrillin-1 | Microfilament Proteins - deficiency | Aortic Rupture - etiology | Interleukin-6 - genetics | Signal Transduction | Mice, Inbred C57BL | Suppressor of Cytokine Signaling Proteins - genetics | Aortic Rupture - pathology | Fibrillins | Interleukin-6 - deficiency | Aortic Aneurysm, Thoracic - etiology | Marfan Syndrome - genetics | Mice, Knockout | Aorta - pathology | Collagen - metabolism | Suppressor of Cytokine Signaling 3 Protein | Animals | Aortic Aneurysm, Thoracic - metabolism | Marfan Syndrome - metabolism | Mice | Suppressor of Cytokine Signaling Proteins - metabolism | Index Medicus
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 01/2016, Volume 291, Issue 3, pp. 1103 - 1114
MFAP4 (microfibrillar-associated protein 4) is an extracellular glycoprotein found in elastic fibers without a clearly defined role in elastic fiber assembly.... 
SWISS-MODEL | LUNG | DOMAIN | CRYSTAL-STRUCTURE | COACERVATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | IN-VIVO | CROSS-LINKING | LYSYL-OXIDASE | GLYCOPROTEIN MAGP-36 | INNATE IMMUNITY | Humans | Protein Multimerization | Glycoproteins - metabolism | Male | Elastic Tissue - metabolism | Protein Isoforms - metabolism | Desmosine - metabolism | Mice, Mutant Strains | Protein Isoforms - chemistry | Tropoelastin - metabolism | Carrier Proteins - chemistry | Microfilament Proteins - metabolism | Protein Interaction Domains and Motifs | Glycoproteins - chemistry | Microfilament Proteins - genetics | Peptide Fragments - genetics | Extracellular Matrix Proteins - metabolism | Glycoproteins - genetics | Recombinant Proteins - metabolism | Microfilament Proteins - chemistry | Extracellular Matrix Proteins - chemistry | Fibrillin-1 | Peptide Fragments - metabolism | Extracellular Matrix Proteins - genetics | Mice, Inbred C57BL | Models, Molecular | Recombinant Proteins - chemistry | Fibrillins | Protein Transport | Carrier Proteins - genetics | Peptide Fragments - chemistry | Animals | Carrier Proteins - metabolism | Tropoelastin - genetics | Ligands | Mutation | Microfibrils - metabolism | Tropoelastin - chemistry | Amino Acid Substitution | Protein Isoforms - genetics | Index Medicus | site-directed mutagenesis | analytical ultracentrifugation | calcium-binding protein | microfibrillar-associated protein 4 |