keyword
MENU ▼
Read by QxMD icon Read
search

Fibrillin

keyword
https://www.readbyqxmd.com/read/29471108/redox-stress-in-marfan-syndrome-dissecting-the-role-of-the-nadph-oxidase-nox4-in-aortic-aneurysm
#1
Francesc Jiménez-Altayó, Thayna Meirelles, Eva Crosas-Molist, M Alba Sorolla, Darya Gorbenko Del Blanco, Judit López-Luque, Aleksandra Mas-Stachurska, Ana-Maria Siegert, Fabio Bonorino, Laura Barberà, Carolina García, Enric Condom, Marta Sitges, Fernando Rodríguez-Pascual, Francisco Laurindo, Katrin Schröder, Joaquim Ros, Isabel Fabregat, Gustavo Egea
Marfan syndrome (MFS) is characterized by the formation of ascending aortic aneurysms resulting from altered assembly of extracellular matrix fibrillin-containing microfibrils and dysfunction of TGF-β signaling. Here we identify the molecular targets of redox stress in aortic aneurysms from MFS patients, and investigate the role of NOX4, whose expression is strongly induced by TGF-β, in aneurysm formation and progression in a murine model of MFS. Working models included aortae and cultured vascular smooth muscle cells (VSMC) from MFS patients, and a NOX4-deficient Marfan mouse model (Fbn1C1039G/+ -Nox4-/- )...
February 19, 2018: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29453284/structural-and-compositional-diversity-of-fibrillin-microfibrils-in-human-tissues
#2
Alexander Eckersley, Kieran T Mellody, Suzanne M Pilkington, Christopher Em Griffiths, Rachel E B Watson, Ronan O'Cualain, Clair Baldock, David Knight, Michael J Sherratt
Elastic fibres comprising fibrillin microfibrils and elastin are present in many tissues, including the skin, lung, and arteries where they confer elasticity and resilience. Although fibrillin microfibrils play distinct and tissue-specific functional roles, it is unclear whether their ultrastructure and composition differ between elastin-rich (skin) and elastin-poor (ciliary body and zonule) organs or after in vitro synthesis by cultured cells. Here, we used atomic force microscopy, which revealed that the bead morphology of fibrillin microfibrils isolated from the human eye differs from those isolated from the skin...
February 16, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29433109/pathogenesis-of-aortic-wall-complications-in-marfan-syndrome
#3
Nimrat Grewal, Adriana C Gittenberger-de Groot
BACKGROUND: Patients with Marfan (MFS) syndrome and patients with a bicuspid aortic valve (BAV) are more prone to develop aortic dilation and dissection compared to persons with a tricuspid aortic valve (TAV). To elucidate potential common as well as distinct pathways of clinical relevance, we compared the histopathological substrates of aortic pathology. PATIENT AND METHODS: Ascending aortic wall specimen were divided in five groups: BAV (n=36) and TAV (n=23) without and with dilation and non-dilated MFS (n=8)...
February 2, 2018: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/29399340/gene-polymorphisms-of-fibronectin-rs2289202-and-fibrillin-2-rs331069-associate-with-vascular-disease-the-tamrisk-study
#4
Tarja Kunnas, Tiina Solakivi, Seppo T Nikkari
Cell surface heparan sulfate (HS) proteoglycans interact with other extracellular matrix (ECM) components, and HS-binding regions are present in ECM proteins such as fibronectin and fibrillin. Because of their previously established role in susceptibility to intracranial aneurysms, the authors sought to determine whether polymorphisms of fibronectin (FN1, rs2289202) and fibrillin 2 (FBN2, rs331069) associate with selected cardiovascular risk factors and events in the TAMRISK study. A 50-year-old Finnish cohort of 810 subjects of whom 340 had diagnosed hypertension was analyzed...
January 2018: Biomedical Reports
https://www.readbyqxmd.com/read/29392152/small-bowel-diverticulosis-and-jejunal-perforation-in-marfan-syndrome
#5
Benjamin S Robey, Anne F Peery, Evan S Dellon
Marfan syndrome is an autosomal dominant disorder involving mutation in the FBN1 gene, which encodes fibrillin-1, a protein critical to maintain the integrity of connective tissue. A mutation in this gene can affect multiple organ systems, but it is not classically associated with gastrointestinal complications. We describe a man with Marfan syndrome with multiple small bowel diverticula leading to small intestinal bacterial overgrowth and recurrent small bowel perforations.
2018: ACG Case Reports Journal
https://www.readbyqxmd.com/read/29386281/the-value-of-plasma-fibrillin-1-level-in-patients-with-spontaneous-cerebral-artery-dissection
#6
Zhu Zhu, Weijun Tang, Liang Ge, Xiang Han, Qiang Dong
OBJECTIVE: To explore the value of plasma fibrillin-1 levels in patients with spontaneous cerebral artery dissection (sCeAD). METHODS: A single-center prospective cohort of 99 consecutive patients with sCeAD between February 2013 and December 2015 were age and sex matched with 115 patients with non-sCeAD ischemic stroke and 20 healthy participants undergoing routine physical examination. The plasma fibrillin-1 level was measured with ELISA and compared among the 3 groups...
January 31, 2018: Neurology
https://www.readbyqxmd.com/read/29386270/finding-fibrillin-in-cerebral-artery-dissection
#7
EDITORIAL
Glen C Jickling, Svetlana Lorenzano
No abstract text is available yet for this article.
January 31, 2018: Neurology
https://www.readbyqxmd.com/read/29371244/cell-type-specific-contributions-of-the-angiotensin-ii-type-1a-receptor-to-aorta-homeostasis-and-aneurysmal-disease
#8
Josephine Galatioto, Cristina I Caescu, Jens Hansen, Jason Cook, Irving Miramontes, Ravi Iyengar, Francesco Ramirez
OBJECTIVE: Two were the aims of this study: first, to translate whole-genome expression profiles into computational predictions of functional associations between signaling pathways that regulate aorta homeostasis and the activity of angiotensin II type 1a receptor (At1ar) in either vascular endothelial or smooth muscle cells and second, to characterize the impact of endothelial cell- or smooth muscle cell-specific At1ar disruption on the development of thoracic aortic aneurysm in fibrillin-1 hypomorphic mice, a validated animal model of early onset progressively severe Marfan syndrome...
January 25, 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29357934/the-importance-of-genotype-phenotype-correlation-in-the-clinical-management-of-marfan-syndrome
#9
Víctor Manuel Becerra-Muñoz, Juan José Gómez-Doblas, Carlos Porras-Martín, Miguel Such-Martínez, María Generosa Crespo-Leiro, Roberto Barriales-Villa, Eduardo de Teresa-Galván, Manuel Jiménez-Navarro, Fernando Cabrera-Bueno
BACKGROUND: Marfan syndrome (MFS) is a disorder of autosomal dominant inheritance, in which aortic root dilation is the main cause of morbidity and mortality. Fibrillin-1 (FBN-1) gene mutations are found in more than 90% of MFS cases. The aim of our study was to summarise variants in FBN-1 and establish the genotype-phenotype correlation, with particular interest in the onset of aortic events, in a broad population of patients with an initial clinical suspicion of MFS. MATERIAL AND METHODS: This single centre prospective cohort study included all patients presenting variants in the FBN-1 gene who visited a Hereditary Aortopathy clinic between September 2010 and October 2016...
January 22, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29350460/three-generation-family-with-novel-contiguous-gene-deletion-on-chromosome-2p22-associated-with-thoracic-aortic-aneurysm-syndrome
#10
Bianca Quiñones-Pérez, Grace E VanNoy, Meghan C Towne, Yiping Shen, Michael N Singh, Pankaj B Agrawal, Sharon E Smith
Latent transforming growth factor binding proteins (LTBP) are a family of extracellular matrix glycoproteins that play an important role in the regulation of transforming growth factor beta (TGF-ß) activation. Dysregulation of the TGF-ß pathway has been implicated in the pathogenesis of inherited disorders predisposing to thoracic aortic aneurysms syndromes (TAAS) including Marfan syndrome (MFS; FBN1) and Loeys-Dietz syndrome (LDS; TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3). While these syndromes have distinct clinical criteria, they share clinical features including aortic root dilation and musculoskeletal findings...
January 19, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29346445/transcriptome-analysis-of-skin-fibroblasts-with-dominant-negative-col3a1-mutations-provides-molecular-insights-into-the-etiopathology-of-vascular-ehlers-danlos-syndrome
#11
Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Marco Ritelli, Marina Colombi
Vascular Ehlers-Danlos syndrome (vEDS) is a dominantly inherited connective tissue disorder caused by mutations in the COL3A1 gene that encodes type III collagen (COLLIII), which is the major expressed collagen in blood vessels and hollow organs. The majority of disease-causing variants in COL3A1 are glycine substitutions and in-frame splice mutations in the triple helix domain that through a dominant negative effect are associated with the severe clinical spectrum potentially lethal of vEDS, characterized by fragility of soft connective tissues with arterial and organ ruptures...
2018: PloS One
https://www.readbyqxmd.com/read/29331337/elastin-in-lung-development-and-disease-pathogenesis
#12
REVIEW
Robert P Mecham
Elastin is expressed in most tissues that require elastic recoil. The protein first appeared coincident with the closed circulatory system, and was critical for the evolutionary success of the vertebrate lineage. Elastin is expressed by multiple cell types in the lung, including mesothelial cells in the pleura, smooth muscle cells in airways and blood vessels, endothelial cells, and interstitial fibroblasts. This highly crosslinked protein associates with fibrillin-containing microfibrils to form the elastic fiber, which is the physiological structure that functions in the extracellular matrix...
January 10, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29310790/live-tissue-antibody-injection-a-novel-method-for-imaging-ecm-in-limb-buds-and-other-tissues
#13
Donald A Fowler, Michael B Filla, Charles D Little, Brenda J Rongish, Hans C E Larsson
Understanding the morphogenesis and differentiation of tissues and organs from progenitor fields requires methods to visualize this process. Despite an ever-growing recognition that ECM plays an important role in tissue development, studies of ECM movement, and patterns in live tissue are scarce. Here, we describe a method in which a living limb bud is immunolabeled prior to fixation using fluorescent antibodies that recognize two ECM constituents, fibronectin and fibrillin 2. The results show that undifferentiated mesenchyme in quail embryos can be distinguished from prechondrogenic cellular condensations, in situ, via ECM antibodies-indicating the developmental transition from naïve mesenchyme to committed skeletal tissue...
2018: Methods in Cell Biology
https://www.readbyqxmd.com/read/29310780/fibrillins
#14
Heena Kumra, Dieter P Reinhardt
Fibrillins are one of the major components of supramolecular fibrous structures in the extracellular matrix of elastic and nonelastic tissues, termed microfibrils. Microfibrils provide tensile strength in nonelastic tissues and scaffolds for the assembly of tropoelastin in elastic tissues, and act a regulator of growth factor bioavailability and activity in connective tissues. Mutations in fibrillins lead to a variety of connective tissue disorders including Marfan syndrome, stiff skin syndrome, dominant Weill-Marchesani syndrome, and others...
2018: Methods in Cell Biology
https://www.readbyqxmd.com/read/29300219/the-effect-of-a-non-peptide-angiotensin-ii-type-2-receptor-agonist-compound-21-on-aortic-aneurysm-growth-in-a-mouse-model-of-marfan-syndrome
#15
Peter Verbrugghe, Jelle Verhoeven, Marnick Clijsters, Dominique Vervoort, Jarne Schepens, Bart Meuris, Paul Herijgers
IntroductionAvailable evidence suggests that the renin-angiotensin-aldosterone (RAA) system is a good target for medical intervention on aortic root dilatation in Marfan syndrome (MFS). The effect of Compound 21 (C21), a non-peptide angiotensin II type 2 receptor (AT2R) agonist on aneurysm progression is was tested.MethodsMice with a mutation in fibrillin-1 (Fbn1C1039G/+) and wild-type (WT) mice were treated with vehicle, losartan, C21, enalapril or a combination. Blood pressure, aortic root diameter, and histological slides were evaluated...
January 3, 2018: Journal of Cardiovascular Pharmacology
https://www.readbyqxmd.com/read/29286095/structural-and-functional-failure-of-fibrillin%C3%A2-1-in-human-diseases-review
#16
Sandra Schrenk, Carola Cenzi, Thomas Bertalot, Maria Teresa Conconi, Rosa Di Liddo
Fibrillins (FBNs) are key relay molecules that form the backbone of microfibrils in elastic and non‑elastic tissues. Interacting with other components of the extracellular matrix (ECM), these ubiquitous glycoproteins exert pivotal roles in tissue development, homeostasis and repair. In addition to mechanical support, FBN networks also exhibit regulatory activities on growth factor signalling, ECM formation, cell behaviour and the immune response. Consequently, mutations affecting the structure, assembly and stability of FBN microfibrils have been associated with impaired biomechanical tissue properties, altered cell‑matrix interactions, uncontrolled growth factor or cytokine activation, and the development of fibrillinopathies and associated severe complications in multiple organs...
December 22, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29279011/recombinant-extracellular-matrix-protein-fragments-support-human-embryonic-stem-cell-chondrogenesis
#17
Aixin Cheng, Stuart Alan Cain, Pinyuan Tian, Andrew K Baldwin, Paweena Uppanan, Cay M Kielty, Susan J Kimber
We previously developed a 14-day culture protocol under potentially GMP, chemically defined conditions, to generate chondro-progenitors from human embryonic stem cells (hESCs). In vivo work has confirmed the cartilage repair capacity of these cells in a nude rat osteochondral defect model. Aiming to enhance hESC-chondrogenesis we screened a range of extracellular matrix (ECM) molecules for their ability to support differentiation of hESCs towards chondrocytes. We identified two novel ECM protein fragments that supported hESC-chondrogenesis: Fibronectin III (fibronectin 7-14 protein fragments including the RGD domain, syndecan binding domain and heparin binding domain); fibrillin-1 (FBN1) fragment PF8 (encoded by exons 30-38, residues 1238-1605, which contains the RGD motif but not heparin binding site)...
December 27, 2017: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/29226593/the-face-in-marfan-syndrome-a-3d-quantitative-approach-for-a-better-definition-of-dysmorphic-features
#18
Claudia Dolci, Valentina Pucciarelli, Daniele M Gibelli, Marina Codari, Susan Marelli, Giuliana Trifirò, Alessandro Pini, Chiarella Sforza
Marfan syndrome (MFS) is a rare hereditable disorder of connective tissue caused by mutations in the fibrillin-1 gene FBN1. Timely diagnosis of MFS is essential to prevent life-threatening cardiovascular complications; nevertheless it can be difficult owing to the phenotypic variability of the syndrome. No clear quantitative definition of facial abnormalities associated with MFS is available. The aim of this study was to improve the definition of the facial phenotype associated with MFS and to verify the usefulness of a 3D noninvasive quantitative approach for its early recognition...
December 11, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/29210860/aortic-dilatation-in-marfan-syndrome-role-of-arterial-stiffness-and-fibrillin-1-variants
#19
Paolo Salvi, Andrea Grillo, Susan Marelli, Lan Gao, Lucia Salvi, Maurizio Viecca, Anna Maria Di Blasio, Renzo Carretta, Alessandro Pini, Gianfranco Parati
OBJECTIVE: Marfan syndrome (MFS) is an autosomal dominant genetic disorder characterized by aortic root dilation and dissection and an abnormal fibrillin-1 synthesis. In this observational study, we evaluated aortic stiffness in MFS and its association with ascending aorta diameters and fibrillin-1 genotype. METHODS: A total of 116 Marfan adult patients without history of cardiovascular surgery, and 144 age, sex, blood pressure and heart rate matched controls were enrolled...
January 2018: Journal of Hypertension
https://www.readbyqxmd.com/read/29198452/betaglycan-tgfbr3-up-regulation-correlates-with-increased-tgf-%C3%AE-signaling-in-marfan-patient-fibroblasts-in-vitro
#20
Menno Evert Groeneveld, Natalija Bogunovic, René John Philip Musters, Geert Jan Tangelder, Gerard Pals, Willem Wisselink, Dimitra Micha, Kak Khee Yeung
BACKGROUND: Marfan syndrome (MFS), a congenital connective tissue disorder leading to aortic aneurysm development, is caused by fibrillin-1 (FBN1) gene mutations. Transforming growth factor beta (TGF-β) might play a role in the pathogenesis. It is still a matter of discussion if and how TGF-β up-regulates the intracellular downstream pathway, although TGF-β receptor 3 (TGFBR3 or Betaglycan) is thought to be involved. We aimed to elucidate the role of TGFBR3 protein in TGF-β signaling in Marfan patients...
November 4, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
keyword
keyword
18871
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"