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https://www.readbyqxmd.com/read/29226593/the-face-in-marfan-syndrome-a-3d-quantitative-approach-for-a-better-definition-of-dysmorphic-features
#1
Claudia Dolci, Valentina Pucciarelli, Daniele M Gibelli, Marina Codari, Susan Marelli, Giuliana Trifirò, Alessandro Pini, Chiarella Sforza
INTRODUCTION: 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
#2
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
#3
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
https://www.readbyqxmd.com/read/29191498/a-report-of-three-families-with-fbn1-related-acromelic-dysplasias-and-review-of-literature-for-genotype-phenotype-correlation-in-gelophysic-dysplasia
#4
S W Cheng, Ho-Ming Luk, YoYo W Y Chu, Yuet-Ling Tung, Elanie Yin-Wah Kwan, Ivan Fai-Man Lo, Brian Hon-Yin Chung
Acromelic dysplasia is a heterogeneous group of rare skeletal dysplasias characterized by distal limb shortening. Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and Acromicric dysplasia (AD) are clinically distinct entities within this group of disorders and are characterized by short stature, short hands, stiff joints, skin thickening, facial anomalies, normal intelligence and skeletal abnormalities. Mutations of the Fibrillin-1 (FBN1) gene have been reported to cause AD, GD and related phenotypes...
November 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29187826/differences-in-the-thoracic-aorta-by-region-and-sex-in-a-murine-model-of-marfan-syndrome
#5
Francesc Jiménez-Altayó, Anna-Maria Siegert, Fabio Bonorino, Thayna Meirelles, Laura Barberà, Ana P Dantas, Elisabet Vila, Gustavo Egea
Marfan syndrome (MFS) is a hereditary disorder of the connective tissue that causes life-threatening aortic aneurysm, which initiates at the aortic root and can progress into the ascending portion. However, analysis of ascending aorta reactivity in animal models of MFS has remained elusive. Epidemiologic evidence suggests that although MFS is equally prevalent in men and women, men are at a higher risk of aortic complications than non-pregnant women. Nevertheless, there is no experimental evidence to support this hypothesis...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29174139/altered-tgf-%C3%AE-endocytic-trafficking-contributes-to-the-increased-signaling-in-marfan-syndrome
#6
Anna-Maria Siegert, Carla Serra-Peinado, Enric Gutiérrez-Martínez, Fernando Rodríguez-Pascual, Isabel Fabregat, Gustavo Egea
The main cardiovascular alteration in Marfan syndrome (MFS) is the formation of aortic aneurysms in which augmented TGF-β signaling is reported. However, the primary role of TGF-β signaling as a molecular link between the genetic mutation of fibrillin-1 and disease onset is controversial. The compartmentalization of TGF-β endocytic trafficking has been shown to determine a signaling response in which clathrin-dependent internalization leads to TGF-β signal propagation, and caveolin-1 (CAV-1) associated internalization leads to signal abrogation...
November 23, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29169988/the-versican-g1-fragment-and-serum-derived-hyaluronan-associated-proteins-interact-and-form-a-complex-in-granulation-tissue-of-pressure-ulcers
#7
Yusuke Murasawa, Hiroyuki Nakamura, Ken Watanabe, Hiroyuki Kanoh, Emiko Koyama, Satoshi Fujii, Koji Kimata, Masahiro Zako, Masahiko Yoneda, Zenzo Isogai
The hyaluronan (HA)-rich extracellular matrix plays dynamic roles during tissue remodeling. Versican and serum-derived HA-associated protein (SHAP) corresponding to the heavy chains of inter-α-trypsin inhibitor (IαI) are major HA-binding molecules in remodeling processes such as wound healing. Versican G1-domain fragment (VG1F) is generated by proteolysis and is present either in remodeling tissues or in the mature dermis. However, the macrocomplex formation of VG1F has not been clarified. Therefore, we examined the VG1F-containing macrocomplex in pressure ulcers characterized by chronic refractory wounds...
November 20, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/29145496/insights-into-soybean-transcriptome-reconfiguration-under-hypoxic-stress-functional-regulatory-structural-and-compositional-characterization
#8
Thiago J Nakayama, Fabiana A Rodrigues, Norman Neumaier, Juliana Marcolino-Gomes, Hugo B C Molinari, Thaís R Santiago, Eduardo F Formighieri, Marcos F Basso, José R B Farias, Beatriz M Emygdio, Ana C B de Oliveira, Ângela D Campos, Aluízio Borém, Frank G Harmon, Liliane M Mertz-Henning, Alexandre L Nepomuceno
Soybean (Glycine max) is one of the major crops worldwide and flooding stress affects the production and expansion of cultivated areas. Oxygen is essential for mitochondrial aerobic respiration to supply the energy demand of plant cells. Because oxygen diffusion in water is 10,000 times lower than in air, partial (hypoxic) or total (anoxic) oxygen deficiency is important component of flooding. Even when oxygen is externally available, oxygen deficiency frequently occurs in bulky, dense or metabolically active tissues such as phloem, meristems, seeds, and fruits...
2017: PloS One
https://www.readbyqxmd.com/read/29114001/impaired-central-pulsatile-hemodynamics-in-children-and-adolescents-with-marfan-syndrome
#9
Andrea Grillo, Paolo Salvi, Susan Marelli, Lan Gao, Lucia Salvi, Andrea Faini, Giuliana Trifirò, Renzo Carretta, Alessandro Pini, Gianfranco Parati
BACKGROUND: Marfan syndrome is characterized by aortic root dilation, beginning in childhood. Data about aortic pulsatile hemodynamics and stiffness in pediatric age are currently lacking. METHODS AND RESULTS: In 51 young patients with Marfan syndrome (12.0±3.3 years), carotid tonometry was performed for the measurement of central pulse pressure, pulse pressure amplification, and aortic stiffness (carotid-femoral pulse wave velocity). Patients underwent an echocardiogram at baseline and at 1 year follow-up and a genetic evaluation...
November 7, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29110304/beta-blockers-for-preventing-aortic-dissection-in-marfan-syndrome
#10
REVIEW
Hyun-Kyoung Koo, Kendra Ak Lawrence, Vijaya M Musini
BACKGROUND: Marfan syndrome is a hereditary disorder affecting the connective tissue and is caused by a mutation of the fibrillin-1 (FBN1) gene. It affects multiple systems of the body, most notably the cardiovascular, ocular, skeletal, dural and pulmonary systems. Aortic root dilatation is the most frequent cardiovascular manifestation and its complications, including aortic regurgitation, dissection and rupture are the main cause of morbidity and mortality. OBJECTIVES: To assess the long-term efficacy and safety of beta-blocker therapy as compared to placebo, no treatment or surveillance only in people with Marfan syndrome...
November 7, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29100092/mutations-in-fibronectin-cause-a-subtype-of-spondylometaphyseal-dysplasia-with-corner-fractures
#11
Chae Syng Lee, He Fu, Nissan Baratang, Justine Rousseau, Heena Kumra, V Reid Sutton, Marcello Niceta, Andrea Ciolfi, Guilherme Yamamoto, Débora Bertola, Carlo L Marcelis, Dorien Lugtenberg, Andrea Bartuli, Choel Kim, Julie Hoover-Fong, Nara Sobreira, Richard Pauli, Carlos Bacino, Deborah Krakow, Jillian Parboosingh, Patrick Yap, Ariana Kariminejad, Marie T McDonald, Mariana I Aracena, Ekkehart Lausch, Sheila Unger, Andrea Superti-Furga, James T Lu, Dan H Cohn, Marco Tartaglia, Brendan H Lee, Dieter P Reinhardt, Philippe M Campeau
Fibronectin is a master organizer of extracellular matrices (ECMs) and promotes the assembly of collagens, fibrillin-1, and other proteins. It is also known to play roles in skeletal tissues through its secretion by osteoblasts, chondrocytes, and mesenchymal cells. Spondylometaphyseal dysplasias (SMDs) comprise a diverse group of skeletal dysplasias and often manifest as short stature, growth-plate irregularities, and vertebral anomalies, such as scoliosis. By comparing the exomes of individuals with SMD with the radiographic appearance of "corner fractures" at metaphyses, we identified three individuals with fibronectin (FN1) variants affecting highly conserved residues...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29079346/axitinib-attenuates-intraplaque-angiogenesis-haemorrhages-and-plaque-destabilization-in-mice
#12
Bieke Van der Veken, Guido R Y De Meyer, Wim Martinet
AIM: An increased density of intraplaque (IP) microvessels in ruptured versus nonruptured human plaques suggests that IP neovascularization has a major causative effect on plaque development and instability. Possibly, vascular endothelial growth factor (VEGF) or other angiogenic factors mediate IP microvessel growth and plaque destabilization. Because apolipoprotein deficient mice with a heterozygous mutation (C1039G+/-) in the fibrillin-1 gene (ApoE(-/-)Fbn1(C1039G+/-)) manifest substantial IP neovascularization, they represent a unique tool to further investigate angiogenesis and its role in atherosclerosis...
October 24, 2017: Vascular Pharmacology
https://www.readbyqxmd.com/read/29042385/association-between-malignancies-and-marfan-syndrome-a-population-based-nested-case-control-study-in-taiwan
#13
Chin-Wang Hsu, Jen-Chun Wang, Wen-I Liao, Wu-Chien Chien, Chi-Hsiang Chung, Chang-Huei Tsao, Yung-Fu Wu, Min-Tser Liao, Shih-Hung Tsai
OBJECTIVE: Marfan syndrome (MFS) involves a deficiency of the structural extracellular matrix component fibrillin-1 and overactivation of the transforming growth factor-β (TGF-β) signalling pathway. The TGF-β signalling pathway also actively participates in malignant transformation. Although anecdotal case reports have suggested associations between MFS/MFS-like conditions and several haematological and solid malignancies, such associations have not been thoroughly evaluated in large-scale studies...
October 16, 2017: BMJ Open
https://www.readbyqxmd.com/read/28993736/pathogenic-mechanisms-of-bicuspid-aortic-valve-aortopathy
#14
REVIEW
Noor M Yassine, Jasmine T Shahram, Simon C Body
Bicuspid aortic valve (BAV) is the most common congenital valvular defect and is associated with ascending aortic dilation (AAD) in a quarter of patients. AAD has been ascribed both to the hemodynamic consequences of normally functioning and abnormal BAV morphology, and to the effect of rare and common genetic variation upon function of the ascending aortic media. AAD manifests in two overall and sometimes overlapping phenotypes: that of aortic root aneurysm, similar to the AAD of Marfan syndrome; and that of tubular AAD, similar to the AAD seen with tricuspid aortic valves (TAVs)...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28991210/a-central-bioactive-region-of-ltbp-2-stimulates-the-expression-of-tgf-%C3%AE-1-in-fibroblasts-via-akt-and-p38-signalling-pathways
#15
Mohamed A Sideek, Joshua Smith, Clementine Menz, Julian R J Adams, Allison J Cowin, Mark A Gibson
Latent transforming growth factor-β-1 binding protein-2 (LTBP-2) belongs to the LTBP-fibrillin superfamily of extracellular proteins. Unlike other LTBPs, LTBP-2 does not covalently bind transforming growth factor-β1 (TGF-β1) but appears to be implicated in the regulation of TGF-β1 bioactivity, although the mechanisms are largely unknown. In experiments originally designed to study the displacement of latent TGF-β1 complexes from matrix storage, we found that the addition of exogenous LTBP-2 to cultured human MSU-1...
October 9, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28944857/a-novel-fbn1-mutation-causes-autosomal-dominant-marfan-syndrome
#16
Ying Xiao, Xiaoqi Liu, Xiaoxin Guo, Liping Liu, Linxin Jiang, Qi Wang, Bo Gong
Marfan syndrome (MFS) is an inherited and systemic disorder. It has been reported that mutations in the fibrillin‑1 gene (FBN1) account for ~90% of autosomal dominant cases of MFS. This study was conducted to screen mutations of FBN1 in a Chinese family with autosomal dominant MFS; four individuals including two patients with MFS were recruited. The family members underwent complete physical, cardiovascular and ophthalmologic examinations. Genomic DNA samples were collected from the family along with 383 unrelated healthy subjects...
November 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28905442/fell-muir-lecture-fibrillin-microfibrils-structural-tensometers-of-elastic-tissues
#17
REVIEW
Cay M Kielty
Fibrillin microfibrils are indispensable structural elements of connective tissues in multicellular organisms from early metazoans to humans. They have an extensible periodic beaded organization, and support dynamic tissues such as ciliary zonules that suspend the lens. In tissues that express elastin, including blood vessels, skin and lungs, microfibrils support elastin deposition and shape the functional architecture of elastic fibres. The vital contribution of microfibrils to tissue form and function is underscored by the heritable fibrillinopathies, especially Marfan syndrome with severe elastic, ocular and skeletal tissue defects...
August 2017: International Journal of Experimental Pathology
https://www.readbyqxmd.com/read/28901506/whole-exome-sequencing-identifies-fbn1-mutations-in-two-patients-with-early%C3%A2-onset-type-b-aortic-dissection
#18
Qian Han, Wenwen Zhang, Changjian Liu, Min Zhou, Feng Ran, Long Yi, Xitai Sun, Zhao Liu
The etiology of thoracic aortic aneurysm and dissection (TAAD) is complex and heterogeneous. Emerging evidence has demonstrated that genetic causes may be a consideration in early‑onset TAAD. Owing to overlapping clinical phenotypes and the genetic heterogeneity of TAAD, it is challenging for clinicians to make a molecular diagnosis of TAAD, particularly in those who present with non‑specific syndromic features. In order to identify the causative mutation in two young patients with acute type B aortic dissection without syndromic features, whole exome sequencing (WES) was performed in the present study...
November 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28901407/colon-cancer-recurrence%C3%A2-associated-genes-revealed-by-wgcna-co%C3%A2-expression-network-analysis
#19
Xiaofeng Zhai, Qingfeng Xue, Qun Liu, Yuyu Guo, Zhe Chen
The present study aimed to identify the recurrence‑associated genes in colon cancer, which may provide theoretical evidence for the development of novel methods to prevent tumor recurrence. Colon cancer and matched normal samples microarray data (E‑GEOD‑39582) were downloaded from ArrayExpress. Genes with significant variation were identified, followed by the screening of differentially expressed genes (DEGs). Subsequently, the co‑expression network of DEGs was constructed using the weighted correlation network analysis (WGCNA) method, which was verified using the validation dataset...
November 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28871432/comparative-physiological-and-proteomic-analyses-reveal-different-adaptive-strategies-by-cymbidium-sinense-and-c-tracyanum-to-drought
#20
Jia-Wei Li, Xiao-Dong Chen, Xiang-Yang Hu, Lan Ma, Shi-Bao Zhang
A terrestrial orchid, Cymbidium sinense appears to utilizes "remedy strategy", while an epiphytic orchid, C. tracyanum , employs a "precaution strategy" to drought stress based on morphological, physiological and proteomic analysis. Drought condition influences plant growth and productivity. Although the mechanism by which plants adapt to this abiotic stress has been studied extensively, the water-adaptive strategies of epiphytes grown in water-limited habitats remain undefined. Here, root and leaf anatomies, dynamic changes in physiological and proteomic responses during periods of drought stress and recovery studied in an epiphytic orchid (Cymbidium tracyanum) and a terrestrial orchid (C...
September 4, 2017: Planta
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