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Fibrillin

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https://www.readbyqxmd.com/read/28619995/codependence-of-bone-morphogenetic-protein-receptor-2-and-transforming-growth-factor-%C3%AE-in-elastic-fiber-assembly-and-its-perturbation-in-pulmonary-arterial-hypertension
#1
Nancy F Tojais, Aiqin Cao, Ying-Ju Lai, Lingli Wang, Pin-I Chen, Miguel A Alejandre Alcazar, Vinicio de Jesus Perez, Rachel K Hopper, Christopher J Rhodes, Matthew A Bill, Lynn Y Sakai, Marlene Rabinovitch
OBJECTIVE: We determined in patients with pulmonary arterial (PA) hypertension (PAH) whether in addition to increased production of elastase by PA smooth muscle cells previously reported, PA elastic fibers are susceptible to degradation because of their abnormal assembly. APPROACH AND RESULTS: Fibrillin-1 and elastin are the major components of elastic fibers, and fibrillin-1 binds bone morphogenetic proteins (BMPs) and the large latent complex of transforming growth factor-β1 (TGFβ1)...
June 15, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28588436/novel-marfan-syndrome-associated-mutation-in-the-fbn1-gene-caused-by-parental-mosaicism-and-leading-to-abnormal-limb-patterning
#2
Efrén Martínez-Quintana, Noemí Caballero-Sánchez, Fayna Rodríguez-González, Paloma Garay-Sánchez, Antonio Tugores
Marfan syndrome is an autosomal dominant disorder of the connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Mutations affecting cysteine residues within the epidermal growith factor-like calcium-binding domains (EGF_CA) of FBN1 are associated with Marfan syndrome features and, especially, with ectopia lentis. We report a novel substitution, affecting the first cysteine of an EGF_CA-binding module encoded by exon 63 of FBN1 (C2571Y), in a patient presenting with typical Marfan syndrome features but without ectopia lentis...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28582847/mir-133b-inhibits-proliferation-and-invasion-of-gastric-cancer-cells-by-up-regulating-fbn1-expression
#3
Deying Yang, Deqin Zhao, Xinrui Chen
We aimed to investigate the influence of miR-133b/fibrillin 1 (FBN1) on proliferation and invasion of human gastric cancer (GC) cells. Carcinomatous and adjacent tissues of 43 GC patients, normal gastric mucosa cell line GES-1 and GC cell lines including AGS, HGC-27, KATO III, NCI-N87, SGC-7901, MKN-45 and MGC-803 were collected. Then, the expressions of miR-133b and FBN1 were detected by qRT-PCR. The dual luciferase reporter gene assay was conducted to determine the targeting relationship between miR-133b and FBN1...
May 19, 2017: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/28576718/effect-of-altered-haemodynamics-on-the-developing-mitral-valve-in-chick-embryonic-heart
#4
Kar Lai Pang, Matthew Parnall, Siobhan Loughna
Intracardiac haemodynamics is crucial for normal cardiogenesis, with recent evidence showing valvulogenesis is haemodynamically dependent and inextricably linked with shear stress. Although valve anomalies have been associated with genetic mutations, often the cause is unknown. However, altered haemodynamics have been suggested as a pathogenic contributor to bicuspid aortic valve disease. Conversely, how abnormal haemodynamics impacts mitral valve development is still poorly understood. In order to analyse altered blood flow, the outflow tract of the chick heart was constricted using a ligature to increase cardiac pressure overload...
May 30, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28542244/a-quantitative-label-free-analysis-of-the-extracellular-proteome-of-human-supraspinatus-tendon-reveals-damage-to-the-pericellular-and-elastic-fibre-niches-in-torn-and-aged-tissue
#5
Osnat Hakimi, Nicola Ternette, Richard Murphy, Benedikt M Kessler, Andrew Carr
Tears of the human supraspinatus tendon are common and often cause painful and debilitating loss of function. Progressive failure of the tendon leading to structural abnormality and tearing is accompanied by numerous cellular and extra-cellular matrix (ECM) changes in the tendon tissue. This proteomics study aimed to compare torn and aged rotator cuff tissue to young and healthy tissue, and provide the first ECM inventory of human supraspinatus tendon generated using label-free quantitative LC-MS/MS. Employing two digestion protocols (trypsin and elastase), we analysed grain-sized tendon supraspinatus biopsies from older patients with torn tendons and from healthy, young controls...
2017: PloS One
https://www.readbyqxmd.com/read/28539832/recapitulating-and-correcting-marfan-syndrome-in-a-cellular-model
#6
Jung Woo Park, Li Yan, Chris Stoddard, Xiaofang Wang, Zhichao Yue, Leann Crandall, Tiwanna Robinson, Yuxiao Chang, Kyle Denton, Enqin Li, Bin Jiang, Zhenwu Zhang, Kristen Martins-Taylor, Siu-Pok Yee, Hong Nie, Feng Gu, Wei Si, Ting Xie, Lixia Yue, Ren-He Xu
Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in FBN1 gene, which encodes a key extracellular matrix protein FIBRILLIN-1. The haplosufficiency of FBN1 has been implicated in pathogenesis of MFS with manifestations primarily in cardiovascular, muscular, and ocular tissues. Due to limitations in animal models to study the late-onset diseases, human pluripotent stem cells (PSCs) offer a homogeneic tool for dissection of cellular and molecular pathogenic mechanism for MFS in vitro. Here, we first derived induced PSCs (iPSCs) from a MFS patient with a FBN1 mutation and corrected the mutation, thereby generating an isogenic "gain-of-function" control cells for the parental MFS iPSCs...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/28539414/moderately-elevated-homocysteine-does-not-contribute-to-thoracic-aortic-aneurysm-in-mice
#7
Jasmin Roohi, Benjamin Kang, David Bernard, Djahida Bedja, Harry C Dietz, Lawrence C Brody
Background: Moderate hyperhomocysteinemia is an attractive target for intervention because it is present in 5-7% of the population and can be reversed by diet. This approach presupposes that hyperhomocysteinemia is directly involved in the disease process. Epidemiologic studies have indicated that moderately elevated homocysteine may contribute to thoracic aortic aneurysm (TAA) dilatation and dissection in humans. In vitro, elevated homocysteine disrupts the structure and function of extracellular matrix components, suggesting that moderate hyperhomocysteinemia may contribute to the development and/or progression of TAA...
May 24, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28526752/the-apical-ecm-preserves-embryonic-integrity-and-distributes-mechanical-stress-during-morphogenesis
#8
Thanh Thi Kim Vuong-Brender, Shashi Kumar Suman, Michel Labouesse
Epithelia are bound by both basal and apical extracellular matrices (ECM). While the composition and function of the former have been intensively investigated, less is known about the latter. The embryonic sheath, the ECM apical to the C. elegans embryonic epidermis, has been suggested to promote its elongation. In an RNAi screen for the components of the sheath, we identified the Zona Pellucida domain proteins NOAH-1 and NOAH-2. We found that these proteins act in the same pathway, and in parallel to three other putative sheath proteins, SYM-1, LET-4 and FBN-1/Fibrillin, to ensure embryonic integrity and promote elongation...
May 19, 2017: Development
https://www.readbyqxmd.com/read/28485217/gaba-promotes-elastin-synthesis-and-elastin-fiber-formation-in-normal-human-dermal-fibroblasts-hdfs
#9
Eriko Uehara, Hideki Hokazono, Mariko Hida, Takako Sasaki, Hidekatsu Yoshioka, Noritaka Matsuo
The multiple physiological effects of γ-aminobutyric acid (GABA) as a functional food component have been recently reported. We previously reported that GABA upregulated the expression of type I collagen in human dermal fibroblasts (HDFs), and that oral administration of GABA significantly increased skin elasticity. However, details of the regulatory mechanism still remain unknown. In this study, we further examined the effects of GABA on elastin synthesis and elastin fiber formation in HDFs. Real-time PCR indicated that GABA significantly increased the expression of tropoelastin transcript in a dose-dependent manner...
June 2017: Bioscience, Biotechnology, and Biochemistry
https://www.readbyqxmd.com/read/28468757/relationship-between-fibrillin-1-genotype-and-severity-of-cardiovascular-involvement-in-marfan-syndrome
#10
Romy Franken, Gisela Teixido-Tura, Maria Brion, Alberto Forteza, Jose Rodriguez-Palomares, Laura Gutierrez, David Garcia Dorado, Gerard Pals, Barbara Jm Mulder, Artur Evangelista
BACKGROUND: The effect of FBN1 mutation type on the severity of cardiovascular manifestations in patients with Marfan syndrome (MFS) has been reported with disparity results. OBJECTIVES: This study aims to determine the impact of the FBN1 mutation type on aortic diameters, aortic dilation rates and on cardiovascular events (ie, aortic dissection and cardiovascular mortality). METHODS: MFS patients with a pathogenic FBN1 mutation followed at two specialised units were included...
May 3, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28442527/a-novel-fibrillin-1-gene-mutation-leading-to-marfan-syndrome-in-a-korean-girl
#11
Hyo-Kyoung Nam, Myung-Hyun Nam, Kee-Soo Ha, Young-Jun Rhie, Kee-Hyoung Lee
Marfan syndrome is an autosomal dominant genetic disorder caused by a connective tissue defect. A nine-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes planus. Transthoracic echocardiography revealed dilatation of the aortic root. She was diagnosed with Marfan syndrome based on the revised Ghent diagnostic criteria. Molecular investigation identified a heterozygous c...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28402065/identification-of-a-synergistic-interaction-between-endothelial-cells-and-retinal-pigment-epithelium
#12
Carrie Spencer, Stephanie Abend, Kevin J McHugh, Magali Saint-Geniez
The retinal pigment epithelium located between the neurosensory retina and the choroidal vasculature is critical for the function and maintenance of both the photoreceptors and underlying capillary endothelium. While the trophic role of retinal pigment epithelium on choroidal endothelial cells is well recognized, the existence of a reciprocal regulatory function of endothelial cells on retinal pigment epithelium cells remained to be fully characterized. Using a physiological long-term co-culture system, we determined the effect of retinal pigment epithelium-endothelial cell heterotypic interactions on cell survival, behaviour and matrix deposition...
April 12, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28395027/fibrillin-microfibrils-keep-the-cornea-in-shape
#13
Shukti Chakravarti
No abstract text is available yet for this article.
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28395026/the-structural-role-of-elastic-fibers-in-the-cornea-investigated-using-a-mouse-model-for-marfan-syndrome
#14
Tomas L White, Philip Lewis, Sally Hayes, James Fergusson, James Bell, Luis Farinha, Nick S White, Lygia V Pereira, Keith M Meek
Purpose: The presence of fibrillin-rich elastic fibers in the cornea has been overlooked in recent years. The aim of the current study was to elucidate their functional role using a mouse model for Marfan syndrome, defective in fibrillin-1, the major structural component of the microfibril bundles that constitute most of the elastic fibers. Methods: Mouse corneas were obtained from animals with a heterozygous fibrillin-1 mutation (Fbn1+/-) and compared to wild type controls...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28385916/mild-aerobic-exercise-blocks-elastin-fiber-fragmentation-and-aortic-dilatation-in-a-mouse-model-of-marfan-syndrome-associated-aortic-aneurysm
#15
Christine P Gibson, Cory Nielsen, Ramona Alex, Kimbal Cooper, Michael Farney, Douglas Gaufin, Jason Z Cui, Cornelis van Breemen, Tom L Broderick, Johana Vallejo-Elias, Mitra Esfandiarei
Regular low impact physical activity is generally allowed in patients with Marfan syndrome, a connective tissue disorder caused by heterozygous mutations in the fibrillin-1 gene. However, being above-average in height encourages young adults with this syndrome to engage in high-intensity contact sports, which unfortunately increases the risk for aortic aneurysm and rupture, the leading cause of death in Marfan syndrome. In this study, we investigated the effects of voluntary (wheel-cage) or forced (treadmill) aerobic exercise at different intensities on aortic function and structure in a mouse model of Marfan syndrome...
April 6, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28383843/-marfan-syndrome-in-childhood-and-adolescence
#16
S Magotteaux, S Bulk, N Farhat, N Sakalihasan, J-O Defraigne, M-Ch Seghaye
The Marfan syndrome is a systemic connective tissue disorder with autosomal dominant inheritance. A mutation of the fibrillin-1 gene, a glycoprotein which is the main constituent of the extracellular matrix, is the cause of the disease. The cardinal features involve the skeletal, ocular and cardiovascular systems. The expression of the Marfan syndrome varies from the severe neonatal presentation to the classical manifestations of the child and young adult, but also comprises isolated features. In children, phenotypical manifestations are age dependent...
July 2016: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28380679/extracellular-assembly-of-the-elastin-cable-line-element-in-the-developing-lung
#17
Cristian D Valenzuela, Willi L Wagner, Robert D Bennett, Alexandra B Ysasi, Janeil M Belle, Karin Molter, Beate K Straub, Dong Wang, Zi Chen, Maximilian Ackermann, Akira Tsuda, Steven J Mentzer
In the normal lung, a dominant structural element is an elastic "line element" that originates in the central bronchi and inserts into the distal airspaces. Despite its structural importance, the process that leads to development of the cable line element is unknown. To investigate the morphologic events contributing to its development, we used optical clearing methods to examine the postnatal rat lung. An unexpected finding was numerous spheres, with a median diameter of 1-2 µm, within the primary septa of the rat lung...
April 5, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28379158/exome-sequencing-identified-a-novel-fbn2-mutation-in-a-chinese-family-with-congenital-contractural-arachnodactyly
#18
Guoling You, Bailing Zu, Bo Wang, Zhigang Wang, Yunlan Xu, Qihua Fu
Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder of connective tissue. CCA is characterized by arachnodactyly, camptodactyly, contrature of major joints, scoliosis, pectus deformities, and crumpled ears. The present study aimed to identify the genetic cause of a three-generation Chinese family with CCA. We successfully identified a novel missense mutation p.G1145D in the fibrillin-2 (FBN2) gene as the pathogenic mutation by whole exome sequencing (WES). The p.G1145D mutation occurs in the 12th calcium-binding epidermal growth factor-like (cbEGF) domain...
April 5, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28331219/intragenic-multi-exon-deletion-in-the-fbn1-gene-in-a-child-with-mildly-dilated-aortic-sinus-a-retrotransposal-event
#19
Maggie Brett, George Korovesis, Angeline H M Lai, Eileen C P Lim, Ene-Choo Tan
Marfan syndrome is an autosomal dominant disorder affecting mainly the skeletal, ocular and cardiovascular systems. Most cases are caused by mutations in the fibrillin-1 gene (FBN1), although there are some reports on deletions involving FBN1 and other additional genes. We report a male patient who was first evaluated at 4 years of age. Echocardiogram showed a mildly dilated aortic sinus. He also had a history of muscular ventral septal defect which was closed spontaneously and trivial mitral regurgitation...
March 23, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28303467/mir-9-5p-down-regulates-pit2-but-not-pit1-in-human-embryonic-kidney-293-cells
#20
D P Paiva, M Keasey, J R M Oliveira
Inorganic phosphate (Pi) is an essential component for structure and metabolism. PiT1 (SLC20A1) and PiT2 (SLC20A2) are members of the mammalian type-III inorganic phosphate transporters. SLC20A2 missense variants are associated with primary brain calcification. MicroRNAs (miRNAs) are endogenous noncoding regulatory RNAs, which play important roles in post-transcriptional gene regulation. MicroRNA-9 (miR-9) acts at different stages of neurogenesis, is deeply rooted in gene networks controlling the regulation of neural progenitor proliferation, and is also linked with cancers outside the nervous system...
March 16, 2017: Journal of Molecular Neuroscience: MN
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