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https://www.readbyqxmd.com/read/28782645/marfan-syndrome-a-connective-tissue-disease-at-the-crossroads-of-mechanotransduction-tgf%C3%AE-signaling-and-cell-stemness
#1
REVIEW
Francesco Ramirez, Cristina Caescu, Elisabeth Wondimu, Josephine Galatioto
Mutations in fibrillin-1 cause Marfan syndrome (MFS), the most common heritable disorder of connective tissue. Fibrillin-1 assemblies (microfibrils and elastic fibers) represent a unique dual-function component of the architectural matrix. The first role is structural for they endow tissues with tensile strength and elasticity, transmit forces across them and demarcate functionally discrete areas within them. The second role is instructive in that these macroaggregates modulate a large variety of sub-cellular processes by interacting with mechanosensors, and integrin and syndecan receptors, and by modulating the bioavailability of local TGFβ signals...
August 4, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/28768908/nonmyocyte-erk1-2-signaling-contributes-to-load-induced-cardiomyopathy-in-marfan-mice
#2
Rosanne Rouf, Elena Gallo MacFarlane, Eiki Takimoto, Rahul Chaudhary, Varun Nagpal, Peter P Rainer, Julia G Bindman, Elizabeth E Gerber, Djahida Bedja, Christopher Schiefer, Karen L Miller, Guangshuo Zhu, Loretha Myers, Nuria Amat-Alarcon, Dong I Lee, Norimichi Koitabashi, Daniel P Judge, David A Kass, Harry C Dietz
Among children with the most severe presentation of Marfan syndrome (MFS), an inherited disorder of connective tissue caused by a deficiency of extracellular fibrillin-1, heart failure is the leading cause of death. Here, we show that, while MFS mice (Fbn1C1039G/+ mice) typically have normal cardiac function, pressure overload (PO) induces an acute and severe dilated cardiomyopathy in association with fibrosis and myocyte enlargement. Failing MFS hearts show high expression of TGF-β ligands, with increased TGF-β signaling in both nonmyocytes and myocytes; pathologic ERK activation is restricted to the nonmyocyte compartment...
August 3, 2017: JCI Insight
https://www.readbyqxmd.com/read/28759179/neonatal-marfan-syndrome-report-of-two-cases
#3
Tomas Jurko, Alexander Jurko, Milan Minarik, Vladimir Micieta, Ingrid Tonhajzerova, Hana Kolarovszka, Mirko Zibolen
Marfan syndrome is rarely diagnosed in the neonatal period because of variable expression and age-dependent appearance of clinical signs. The prognosis is usually poor due to high probability of congestive heart failure, mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management. The authors have studied two cases of Marfan syndrome in the newborn period. Two cases of neonatal Marfan syndrome, one male and one female, were diagnosed by characteristic physical appearance...
July 2, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28750552/human-skin-gene-expression-natural-trans-resveratrol-versus-five-resveratrol-analogs-for-dermal-applications
#4
Edwin D Lephart, Merritt B Andrus
Resveratrol (RV) is a polyphenolic compound naturally produced by plants. Polyphenolic compounds incorporated into medicinal products are beneficial but, RV is rapidly metabolized with an associated decline in biological activity. This study tested RV as the standard and compared five structurally modified RV analogs: butyrate, isobutyrate, palmitoate, acetate, and diacetate (to improve functionality) at 1% concentration(s) for 24 h in epiderm full thickness cultures by gene array/qPCR mRNA analysis. When silent mating type information regulation 2 homolog 1, extracellular elements (collagen1A1, 3A1, 4A1; elastin, tissue inhibitor of matrix metalloproteinase 1, fibrillin 1 laminin beta1 and matrix metalloproteinase 9), anti-aging and aging genes, inflammatory biomarkers (interleukin-1A [IL1A], IL1R2, IL-6 and IL-8), nerve growth factor, and the antioxidants (proliferating cell nuclear antigen, catalase, superoxide dismutase and metallothionein 1H/2H) were evaluated, ranking each from highest-to-lowest for gene expression: butyrate > isobutyrate > diacetate > acetate > palmitoate...
January 1, 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28744027/the-effect-of-ultraviolet-b-on-fibrillin-1-and-fibrillin-2-in-human-non-pigmented-ciliary-epithelial-cells-in-vitro
#5
Yuki Shiroto, Shingo Terashima, Yoichiro Hosokawa, Kyoko Oka, Keitaro Isokawa, Eichi Tsuruga
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. The ciliary zonules are composed of oxytalan fibers. Physiological or pathological damage to the ciliary zonules, including exposure to ultraviolet (UV)-A and UV-B components, can lead to lens dislocation. However, no studies have shown whether UV affects the ciliary zonule. Here, we assessed the effects of UV light on human nonpigmented ciliary epithelial cells (HNPCECs)...
June 26, 2017: Acta Histochemica et Cytochemica
https://www.readbyqxmd.com/read/28717224/fibulin-4-deposition-requires-emilin-1-in-the-extracellular-matrix-of-osteoblasts
#6
Alvise Schiavinato, Douglas R Keene, Thomas Imhof, Roberto Doliana, Takako Sasaki, Gerhard Sengle
Tissue microenvironments formed by extracellular matrix networks play an important role in regulating tissue structure and function. Extracellular microfibrillar networks composed of fibrillins and their associated ligands such as LTBPs, fibulins, and EMILINs are of particular interest in this regard since they provide a specialized cellular microenvironment guiding proper morphology and functional behavior of specialized cell types. To understand how cellular microenvironments composed of intricate microfibrillar networks influence cell fate decisions in a contextual manner, more information about the spatiotemporal localization, deposition, and function of their components is required...
July 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28708846/sex-pregnancy-and-aortic-disease-in-marfan-syndrome
#7
Marjolijn Renard, Laura Muiño-Mosquera, Elise C Manalo, Sara Tufa, Eric J Carlson, Douglas R Keene, Julie De Backer, Lynn Y Sakai
BACKGROUND: Sex-related differences as well as the adverse effect of pregnancy on aortic disease outcome are well-established phenomena in humans with Marfan syndrome (MFS). The underlying mechanisms of these observations are largely unknown. OBJECTIVES: In an initial (pilot) step we aimed to confirm the differences between male and female MFS patients as well as between females with and without previous pregnancy. We then sought to evaluate whether these findings are recapitulated in a pre-clinical model and performed in-depth cardiovascular phenotyping of mutant male and both nulliparous and multiparous female Marfan mice...
2017: PloS One
https://www.readbyqxmd.com/read/28690007/bioreactor-induced-mesenchymal-progenitor-cell-differentiation-and-elastic-fiber-assembly-in-engineered-vascular-tissues
#8
Shigang Lin, Kibret Mequanint
In vitro maturation of engineered vascular tissues (EVT) requires the appropriate incorporation of smooth muscle cells (SMC) and extracellular matrix (ECM) components similar to native arteries. To this end, the aim of the current study was to fabricate 4mm inner diameter vascular tissues using mesenchymal progenitor cells seeded into tubular scaffolds. A dual-pump bioreactor operating either in perfusion or pulsatile perfusion mode was used to generate physiological-like stimuli to promote progenitor cell differentiation, extracellular elastin production, and tissue maturation...
September 1, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/28669633/the-n-terminal-region-of-fibrillin-1-mediates-a-bipartite-interaction-with-ltbp1
#9
Ian B Robertson, Hans F Dias, Isabelle H Osuch, Edward D Lowe, Sacha A Jensen, Christina Redfield, Penny A Handford
Fibrillin-1 (FBN1) mutations associated with Marfan syndrome lead to an increase in transforming growth factor β (TGF-β) activation in connective tissues resulting in pathogenic changes including aortic dilatation and dissection. Since FBN1 binds latent TGF-β binding proteins (LTBPs), the major reservoir of TGF-β in the extracellular matrix (ECM), we investigated the structural basis for the FBN1/LTBP1 interaction. We present the structure of a four-domain FBN1 fragment, EGF2-EGF3-Hyb1-cbEGF1 (FBN1(E2cbEGF1)), which reveals a near-linear domain organization...
August 1, 2017: Structure
https://www.readbyqxmd.com/read/28662401/fibrillin-2-and-tenascin-c-bridge-the-age-gap-in-lung-epithelial-regeneration
#10
Sarah E Gilpin, Qiyao Li, Daniele Evangelista-Leite, Xi Ren, Dieter P Reinhardt, Brian L Frey, Harald C Ott
Organ engineering based on native matrix scaffolds involves combining regenerative cell populations with corresponding biological matrices to form functional grafts on-demand. The extracellular matrix (ECM) that is retained following lung decellularization provides essential structure and biophysical cues for whole organ regeneration after recellularization. The unique ECM composition in the early post-natal lung, during active alveologenesis, may possess distinct signals that aid in driving cell adhesion, survival, and proliferation...
September 2017: Biomaterials
https://www.readbyqxmd.com/read/28650953/de-novo-paternal-fbn1-mutation-detected-in-embryos-before-implantation
#11
Shuling Wang, Ziru Niu, Hui Wang, Minyue Ma, Wei Zhang, Shu Fang Wang, Jun Wang, Hong Yan, Yifan Liu, Na Duan, Xiandong Zhang, Yuanqing Yao
BACKGROUND Marfan syndrome (MFS) is an autosomal dominant disease caused by mutations in the Fibrillin (FBN)1 gene and characterized by disorders in the cardiovascular, skeletal, and visual systems. The diversity of mutations and phenotypic heterogeneity of MFS make prenatal molecular diagnoses difficult. In this study, we used pre-implantation genetic diagnosis (PGD) to identify the pathogenic mutation in a male patient with MFS and to determine whether his offspring would be free of the disease. MATERIAL AND METHODS The history and pedigree of the proband were analyzed...
June 26, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
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
#12
Nancy F Tojais, Aiqin Cao, Ying-Ju Lai, Lingli Wang, Pin-I Chen, Miguel A Alejandre Alcazar, Vinicio A 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)...
August 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
#13
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
#14
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...
July 4, 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
#15
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...
July 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
#16
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
#17
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
#18
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...
July 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28526752/the-apical-ecm-preserves-embryonic-integrity-and-distributes-mechanical-stress-during-morphogenesis
#19
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
#20
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
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