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https://www.readbyqxmd.com/read/28526752/the-apical-ecm-preserves-embryonic-integrity-and-distributes-mechanical-stress-during-morphogenesis
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28249037/effects-of-a-skin-massaging-device-on-the-ex-vivo-expression-of-human-dermis-proteins-and-in-vivo-facial-wrinkles
#14
Elisa Caberlotto, Laetitia Ruiz, Zane Miller, Mickael Poletti, Lauri Tadlock
Mechanical and geometrical cues influence cell behaviour. At the tissue level, almost all organs exhibit immediate mechanical responsiveness, in particular by increasing their stiffness in direct proportion to an applied mechanical stress. It was recently shown in cultured-cell models, in particular with fibroblasts, that the frequency of the applied stress is a fundamental stimulating parameter. However, the influence of the stimulus frequency at the tissue level has remained elusive. Using a device to deliver an oscillating torque that generates cyclic strain at different frequencies, we studied the effect(s) of mild skin massage in an ex vivo model and in vivo...
2017: PloS One
https://www.readbyqxmd.com/read/28240702/utility-of-genetic-testing-in-elite-volleyball-players-with-aortic-root-dilation
#15
Nicole Herrick, Christopher Davis, Lisa Vargas, Hal Dietz, Paul Grossfeld
Basketball and volleyball attract individuals with a characteristic biophysical profile, mimicking features of Marfan Syndrome (MFS). Consequently, identification of these abnormalities can be lifesaving. PURPOSE: To determine how physical examination, echocardiography, and genetic screening can identify elite volleyball players with a previously undiagnosed aortopathy. METHODS: We have performed cardiac screening on 90 US Volleyball National Team members and identified four individuals with dilated sinuses of Valsalva...
February 25, 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28203099/a-new-dermocosmetic-containing-retinaldehyde-delta-tocopherol-glucoside-and-glycylglycine-oleamide-for-managing-naturally-aged-skin-results-from-in-vitro-to-clinical-studies
#16
Céline Rouvrais, Daniel Bacqueville, Patrick Bogdanowicz, Marie-José Haure, Laure Duprat, Christine Coutanceau, Nathalie Castex-Rizzi, Hélène Duplan, Valérie Mengeaud, Sandrine Bessou-Touya
INTRODUCTION: Natural aging of skin tissues, the addition of the cumulative action of the time and radiation exposure result in skin atrophy, wrinkles and degeneration of the extracellular matrix (ECM). The aim of the study was to investigate the beneficial effect of a combination containing retinaldehyde (RAL), delta-tocopherol glucoside (delta-TC) and glycylglycine ole-amide (GGO) and of a dermocosmetic containing the combination. MATERIALS AND METHODS: The protective effect of the combination was assessed through in vitro gene expression of ultraviolet (UV)-irradiated fibroblasts...
2017: Clinical, Cosmetic and Investigational Dermatology
https://www.readbyqxmd.com/read/28176809/unusual-life-cycle-and-impact-on-microfibril-assembly-of-adamts17-a-secreted-metalloprotease-mutated-in-genetic-eye-disease
#17
Dirk Hubmacher, Michael Schneider, Steven J Berardinelli, Hideyuki Takeuchi, Belinda Willard, Dieter P Reinhardt, Robert S Haltiwanger, Suneel S Apte
Secreted metalloproteases have diverse roles in the formation, remodeling, and the destruction of extracellular matrix. Recessive mutations in the secreted metalloprotease ADAMTS17 cause ectopia lentis and short stature in humans with Weill-Marchesani-like syndrome and primary open angle glaucoma and ectopia lentis in dogs. Little is known about this protease or its connection to fibrillin microfibrils, whose major component, fibrillin-1, is genetically associated with ectopia lentis and alterations in height...
February 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28168077/a-case-of-neonatal-marfan-syndrome-a-management-conundrum-and-the-role-of-a-multidisciplinary-team
#18
Elliott J Carande, Samuel J Bilton, Satish Adwani
Neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14-month-old girl diagnosed with nMFS at 5 months of age. Her diagnosis followed the identification of a fibrillin-1 mutation (FBN1 gene, exon 26, chromosome 15), which is a common locus of nMFS. This patient developed severe cardiac complications resulting in congestive cardiac failure in early life and required major cardiac surgery...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28165551/thyroid-disorders-in-polycystic-ovary-syndrome
#19
K Kowalczyk, G Franik, D Kowalczyk, D Pluta, Ł Blukacz, P Madej
OBJECTIVE: Thyroid disorders, especially Hashimoto's thyroiditis (HT), are observed significantly more often in patients with polycystic ovary syndrome (PCOS) than in the general population - approximately 27% and 8%, respectively. This is extremely important in young women, because both disorders are connected with fertility problems. As HT and PCOS occur together, fertility problems may become a serious clinical issue in these patients. MATERIALS AND METHODS: A systematic literature review in PubMed of PCOS- and HT-related articles in English, published until December 2015 was conducted...
January 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28119285/aortopathy-in-a-mouse-model-of-marfan-syndrome-is-not-mediated-by-altered-transforming-growth-factor-%C3%AE-signaling
#20
Hao Wei, Jie Hong Hu, Stoyan N Angelov, Kate Fox, James Yan, Rachel Enstrom, Alexandra Smith, David A Dichek
BACKGROUND: Marfan syndrome (MFS) is caused by mutations in the gene encoding fibrillin-1 (FBN1); however, the mechanisms through which fibrillin-1 deficiency causes MFS-associated aortopathy are uncertain. Recently, attention was focused on the hypothesis that MFS-associated aortopathy is caused by increased transforming growth factor-β (TGF-β) signaling in aortic medial smooth muscle cells (SMC). However, there are many reasons to doubt that TGF-β signaling drives MFS-associated aortopathy...
January 24, 2017: Journal of the American Heart Association
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