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Journal of Pediatrics, ISSN 0022-3476, 2019
We describe an infant with a phenotype typical of early onset Marfan syndrome whose genetic evaluation, including Sanger sequencing and deletion/duplication... 
genetic | deletion | fibrillin | FBN1
Journal Article
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2014, Volume 802, pp. 31 - 47
Conference Proceeding
Journal of Photochemistry & Photobiology, B: Biology, ISSN 1011-1344, 10/2017, Volume 175, pp. 58 - 64
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2015, Volume 167, Issue 10, pp. 2382 - 2387
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 8, pp. 922 - 927
Journal Article
Cell Stem Cell, ISSN 1934-5909, 05/2012, Volume 10, Issue 5, pp. 544 - 555
Journal Article
Cellular Signalling, ISSN 0898-6568, 02/2019, Volume 54, pp. 191 - 199
Photodamage in chronically sun-exposed skin manifests clinically as deep wrinkles and histologically as extensive remodelling of the dermal extracellular... 
Atomic force microscopy (AFM) | Photoageing | Fibrillin microfibrils | Gel electrophoresis | Ultraviolet radiation (UVR) | Reactive oxygen species (ROS) | Matrix metalloproteinase (MMP) | Extracellular matrix | COLLAGEN | HUMAN SKIN | FIBRILLIN | MICROFIBRILS | CELL BIOLOGY | PATHOGENESIS | IRRADIATION | METALLOELASTASE MMP-12 | DEGRADATION | DISSOLVED-OXYGEN
Journal Article
Scientific Reports, ISSN 2045-2322, 10/2016, Volume 6, Issue 1, pp. 35956 - 35956
ADAMTS10 and ADAMTS6 are homologous metalloproteinases with ill-defined roles. ADAMTS10 mutations cause Weill-Marchesani syndrome (WMS), implicating it in... 
MATRIX | PROTEIN | SYNDECAN-4 | FIBRILLIN MICROFIBRILS | DEPOSITION | MULTIDISCIPLINARY SCIENCES | MARFAN-SYNDROME | HEPARAN-SULFATE | LATENT TGF-BETA | BINDING | WEILL-MARCHESANI-SYNDROME | Heparan sulfate | Cell junctions | siRNA | Fibrillin | Fibronectin | Interfaces | Overexpression | Active sites | Mutagenesis | Furin | Mutation | Heparin | Syndecan | Index Medicus
Journal Article
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 12/2014, Volume 95, Issue 6, pp. 736 - 743
Thoracic aortic aneurysm and dissection (TAAD) is an autosomal-dominant disorder with major life-threatening complications. The disease displays great genetic... 
GLYCOPROTEIN 2 | SITE | GENETICS | FIBRILLIN | MARFAN-SYNDROME | GENETICS & HEREDITY | MAGP-2 | FBN1 | TGFBR2
Journal Article
ACTA HISTOCHEMICA ET CYTOCHEMICA, ISSN 0044-5991, 2017
The ciliary zonules link the lens to the ciliary body in the eye, controlling the thickness of the lens for focusing through their characteristic elasticity.... 
ciliary zonule | ultraviolet | fibrillin | microfibril
Journal Article
Journal Article
Russian Journal of Cardiology, ISSN 1560-4071, 10/2015, Volume 126, Issue 10, pp. 61 - 64
Journal Article
Российский кардиологический журнал, ISSN 1560-4071, 10/2015, Issue 10, pp. 61 - 64
Aim. The development of an optimal protocol for diagnostic search for mutations with the use of the new generation sequencing technique (NGS) and evaluation of... 
Marfan’s syndrome | fibrillin | FBN1
Journal Article
Molecular and Cellular Proteomics, ISSN 1535-9476, 01/2019, Volume 18, Issue 1, pp. 65 - 85
Fibroblast activation protein-alpha (FAP) is a cell-surface transmembrane-anchored dimeric protease. This unique, constitutively active serine protease has... 
CLEAVING ENZYME | IN-VITRO | DIPEPTIDYL PEPTIDASE 9 | FAP | CELL-SURFACE PROTEASE | BIOCHEMICAL RESEARCH METHODS | CLEAVAGE | EXPRESSION | STATISTICAL-MODEL | NEUROPEPTIDE-Y | FAMILY
Journal Article
Science, ISSN 0036-8075, 4/2006, Volume 312, Issue 5770, pp. 117 - 121
Aortic aneurysm and dissection are manifestations of Marfan syndrome (MFS), a disorder caused by mutations in the gene that encodes fibrillin-1. Selected... 
Airspace | Receptors | Architecture | Dilatation | Root growth | Placebos | Reports | Mice | Aortic aneurysm | Elastic tissue | Marfan syndrome | PATHOGENESIS | GROWTH-FACTOR-BETA | ACTIVATION | FIBRILLIN | MULTIDISCIPLINARY SCIENCES | RATS | RECEPTOR | SMOOTH-MUSCLE-CELLS | BLOCKADE | CONTRIBUTES | DILATATION | Angiotensin II Type 1 Receptor Blockers - therapeutic use | Propranolol - therapeutic use | Neutralization Tests | Aortic Aneurysm - etiology | Lung Diseases - drug therapy | Marfan Syndrome - drug therapy | Propranolol - administration & dosage | Antibodies - immunology | Transforming Growth Factor beta - antagonists & inhibitors | Female | Marfan Syndrome - complications | Microfilament Proteins - genetics | Adrenergic beta-Antagonists - administration & dosage | Adrenergic beta-Antagonists - therapeutic use | Angiotensin II Type 1 Receptor Blockers - administration & dosage | Aortic Aneurysm - prevention & control | Disease Models, Animal | Transforming Growth Factor beta - immunology | Fibrillin-1 | Lung - pathology | Pulmonary Alveoli - pathology | Signal Transduction | Fibrillins | Pregnancy Complications - drug therapy | Aorta - pathology | Pregnancy | Elastic Tissue - pathology | Animals | Receptor, Angiotensin, Type 1 - metabolism | Losartan - therapeutic use | Marfan Syndrome - metabolism | Marfan Syndrome - pathology | Losartan - administration & dosage | Lung Diseases - pathology | Mutation | Transforming Growth Factor beta - metabolism | Complications and side effects | Aortic aneurysms | Genetic aspects | Research | Risk factors | Signal transduction | Pharmacology | Models | Genetic disorders | Antagonist drugs | Rodents | Index Medicus
Journal Article