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https://www.readbyqxmd.com/read/29666143/truncated-c-terminus-of-fibrillin-1-induces-marfanoid-progeroid-lipodystrophy-mpl-syndrome-in-rabbit
#1
Mao Chen, Bing Yao, Qiangbing Yang, Jichao Deng, Yuning Song, Tingting Sui, Lina Zhou, HaoBing Yao, Yuanyuan Xu, Hongsheng Ouyang, Daxin Pang, Zhanjun Li, Liangxue Lai
Various clinical differences have been observed between patients with the FBN1 gene mutation and those with the classical Marfan phenotype. Although FBN1 knockout (KO) or dominant-negative mutant mice are widely used as an animal model for Marfan syndrome (MFS), these mice cannot recapitulate the genotype/phenotype relationship of Marfanoid-progeroid-lipodystrophy (MPL) syndrome, which is caused by a mutation in the C-terminus of fibrillin-1, the penultimate exon of the FBN1 gene. Here, we describe the generation of a rabbit MPL model with C-terminal truncation of fibrillin-1 using a CRISPR/Cas9 system...
April 9, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29664544/human-skin-model-for-mimic-dermal-studies-in-pathology-with-a-clinical-implication-in-pressure-ulcers
#2
Lara Cristóbal, Miguel A Ortega, Ángel Asúnsolo, Beatriz Romero, Melchor Álvarez-Mon, Julia Buján, Andrés A Maldonado, Natalio García-Honduvilla
Despite advances in regenerative medicine and tissue engineering, human skin substitutes remain a clear goal to achieve. Autografts remain the principal clinical option. The long-term changes in dermis, as well as its response after injuries, are not well known. Research in this field has been hindered by a lack of experimental animal models. This study analyzes the architectural dermal scaffold (collagen and elastin fibers plus fibrillin-microfibrils) changes in a model of human skin pressure ulcers in mice...
April 17, 2018: Histology and Histopathology
https://www.readbyqxmd.com/read/29658877/simulation-of-the-elastin-and-fibrillin-in-non-irradiated-or-uva-radiated-fibroblasts-and-direct-inhibition-of-elastase-or-matrix-metalloptoteinases-activity-by-nicotinamide-or-its-derivatives
#3
Neena Philips, Jovinna Chalensouk-Khaosaat, Salvador Gonzalez
Skin aging/photoaging is associated with altered the structure of collagen and elastin fibers, and increased activity of matrix metalloproteinases (MMP) and elastase. Nicotinamide and its derivatives, 2,6-dihydroxynicotinamide, 2,4,5,6-tetrahydroxynicotinamide, and 3-hydroxypicolinamide (collectively niacin derivatives) stimulate fibrillar collagen and heat shock proteins in dermal fibroblasts. The goal of this research was to extend the understanding of the anti-skin aging mechanism of these niacin derivatives through the stimulation of elastin (at the protein and promoter levels), fibrillin (1 and 2) in nonirradiated or ultraviolet (UVA) radiated dermal fibroblasts, and through the direct inhibition of MMP (1, 3, and 9) and elastase activities...
January 2018: Journal of Cosmetic Science
https://www.readbyqxmd.com/read/29620158/ltbp2-promotes-the-migration-and-invasion-of-gastric-cancer-cells-and-predicts-poor-outcome-of-patients-with-gastric-cancer
#4
Jun Wang, Wen-Jia Liang, Guang-Tao Min, Hong-Peng Wang, Wei Chen, Nan Yao
Latent transforming growth factor-β-binding protein (LTBP)2 is a member of the fibrillin/LTBP superfamily of extracellular matrix proteins, and has been demonstrated to exhibit tumor-promoting and tumor-suppressive functions in different types of cancer. However, the function of LTBP2 in gastric cancer (GC) remains unknown. The aim of the present study was to investigate the expression and molecular function of LTBP2 in GC, and to evaluate its prognostic value for patients with GC. The results revealed that the expression of LTBP2 was upregulated in GC tissues and cell lines...
April 4, 2018: International Journal of Oncology
https://www.readbyqxmd.com/read/29547877/fibrillin-1-insufficiency-alters-periodontal-wound-healing-failure-in-a-mouse-model-of-marfan-syndrome
#5
Keisuke Handa, Syouta Abe, V Venkata Suresh, Yoshiyasu Fujieda, Masaki Ishikawa, Ai Orimoto, Yoko Kobayashi, Satoru Yamada, Satoko Yamaba, Shinya Murakami, Masahiro Saito
OBJECTIVE: Marfan syndrome (MFS) is a systemic connective tissue disorder caused by insufficient fibrillin-1 (FBN-1), a major component of microfibrils that controls the elasticity and integrity of connective tissues. FBN-1 insufficiency in MFS leads to structural weakness, which causes various tissue disorders, including cardiovascular and periodontal disease. However, the role of FBN-1 insufficiency in the destruction and regeneration of connective tissue has not yet been clarified...
March 6, 2018: Archives of Oral Biology
https://www.readbyqxmd.com/read/29541693/ruptured-abdominal-aortic-aneurysm-repair-in-pediatric-marfan-syndrome-patient
#6
Joyce J Lu, Jason D Slaikeu, Peter Y Wong
Marfan syndrome is a well-described autosomal dominant connective tissue disorder with a constellation of anatomic characteristics including aortic degeneration as a result of the spontaneous mutation of the fibrillin gene, FBN1 . Whereas life-threatening dissection and ascending aneurysmal rupture have been thoroughly documented in the literature, aneurysms of the abdominal aorta and those present in the pediatric population have only rarely been reported. In this case report, we describe presentation, successful open surgical repair, and recovery of a pediatric Marfan syndrome patient with a ruptured abdominal aortic aneurysm...
March 2018: Journal of Vascular Surgery Cases and Innovative Techniques
https://www.readbyqxmd.com/read/29524629/microfibril-associated-glycoproteins-magp-1-and-magp-2-in-disease
#7
REVIEW
Clarissa S Craft, Thomas J Broekelmann, Robert P Mecham
Microfibril-associated glycoproteins 1 and 2 (MAGP-1, MAGP-2) are protein components of extracellular matrix microfibrils. These proteins interact with fibrillin, the core component of microfibrils, and impart unique biological properties that influence microfibril function in vertebrates. MAGPs bind active forms of TGFβ and BMPs and are capable of modulating Notch signaling. Mutations in MAGP-1 or MAGP-2 have been linked to thoracic aneurysms and metabolic disease in humans. MAGP-2 has also been shown to be an important biomarker in several human cancers...
March 7, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29519758/contribution-of-metabolic-disease-to-bone-fragility-in-magp1-deficient-mice
#8
S E Turecamo, T A Walji, T J Broekelmann, J W Williams, S Ivanov, N K Wee, J D Procknow, M R McManus, G J Randolph, E L Scheller, R P Mecham, C S Craft
Microfibril-associated glycoprotein-1 (MAGP1) is an extracellular matrix protein that interacts with fibrillin and is involved in regulating the bioavailability of signaling molecules such as TGFβ. Mice with germline MAGP1 deficiency (Mfap2-/- ) develop increased adiposity, hyperglycemia, insulin resistance, bone marrow adipose tissue expansion, reduced cancellous bone mass, cortical bone thinning and bone fragility. The goal of this study was to assess whether the Mfap2-/- bone phenotypes were due to loss of MAGP1 locally or secondary to a change in whole body physiology (metabolic dysfunction)...
March 5, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29483877/participation-of-arachidonic-acid-metabolism-in-the-aortic-aneurysm-formation-in-patients-with-marfan-syndrome
#9
María E Soto, Verónica Guarner-Lans, Karla Y Herrera-Morales, Israel Pérez-Torres
Marfan syndrome (MFS) is a pleiotropic genetic disease involving the cardiovascular system where a fibrillin-1 mutation is present. This mutation is associated with accelerated activation of transforming growth factor β (TGFβ1) which contributes to the formation of aneurysms in the root of the aorta. There is an imbalance in the synthesis of thromboxane A2 (TXA2 ) and prostacyclin, that is a consequence of a differential protein expression of the isoforms of cyclooxygenases (COXs), suggesting an alteration of arachidonic acid (AA) metabolism...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29471108/redox-stress-in-marfan-syndrome-dissecting-the-role-of-the-nadph-oxidase-nox4-in-aortic-aneurysm
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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...
February 27, 2018: Neurology
https://www.readbyqxmd.com/read/29386270/finding-fibrillin-in-cerebral-artery-dissection
#16
EDITORIAL
Glen C Jickling, Svetlana Lorenzano
No abstract text is available yet for this article.
February 27, 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
#17
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
#18
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
#19
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...
March 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
#20
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
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