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https://www.readbyqxmd.com/read/28098115/a-novel-fibrillin-1-mutation-in-an-egyptian-marfan-family-a-proband-showing-nephrotic-syndrome-due-to-focal-segmental-glomerulosclerosis
#1
Mohammad Al-Haggar, Ashraf Bakr, Yahya Wahba, Paul J Coucke, Fatma El-Hussini, Mona Hafez, Riham Eid, Abdel-Rahman Eid, Amr Sarhan, Ali Shaltout, Ayman Hammad, Sohier Yahia, Ahmad El-Rifaie, Dina Abdel-Hadi
Marfan syndrome (MFS), the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 (FBN1) and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular. More than one thousand mutations in FBN1 gene on chromosome 15 were found to cause MFS. Nephrotic syndrome (NS) had been described in very few patients with MFS being attributed to membranoproliferative glomerulonephritis secondary to infective endocarditis...
January 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28071719/quantitative-proteomic-profiling-of-the-extracellular-matrix-of-pancreatic-islets-during-the-angiogenic-switch-and-insulinoma-progression
#2
Alexandra Naba, Karl R Clauser, D R Mani, Steven A Carr, Richard O Hynes
The angiogenic switch, the time at which a tumor becomes vascularized, is a critical step in tumor progression. Indeed, without blood supply, tumors will fail to grow beyond 1 mm(3) and are unlikely to disseminate. The extracellular matrix (ECM), a major component of the tumor microenvironment, is known to undergo significant changes during angiogenesis and tumor progression. However the extent of these changes remains unknown. In this study, we used quantitative proteomics to profile the composition of the ECM of pancreatic islets in a mouse model of insulinoma characterized by a precisely timed angiogenic switch...
January 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28062680/mitral-valve-replacement-using-a-handmade-construct-in-an-infant
#3
Steven Bibevski, Alexandra Levy, Frank G Scholl
We recently reported the feasibility of a handmade left atrioventricular valve using decellularized extracellular matrix for 3 months in a failed repair of AV canal defect. We present the use of an extracellular matrix mitral valve for 9 months in an infant with an un-repairable congenitally malformed valve. The valve functioned perfectly without anticoagulation until the patient expired from non-cardiac complications of their fibrillin gene defect. This report adds further experience using valves made from extracellular matrix in the systemic ventricle both in terms of application and in terms of short-term durability of the construct...
January 6, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28050602/exome-sequencing-identifies-de-novo-pathogenic-variants-in-fbn1-and-trps1-in-a-patient-with-a-complex-connective-tissue-phenotype
#4
Diane B Zastrow, Patricia A Zornio, Annika Dries, Jennefer Kohler, Liliana Fernandez, Daryl Waggott, Magdalena Walkiewicz, Christine M Eng, Melanie A Manning, Ellyn Farrelly, Paul G Fisher, Euan A Ashley, Jonathan A Bernstein, Matthew T Wheeler
Here we describe a patient who presented with a history of congenital diaphragmatic hernia, inguinal hernia, and recurrent umbilical hernia. She also has joint laxity, hypotonia, and dysmorphic features. A unifying diagnosis was not identified based on her clinical phenotype. As part of her evaluation through the Undiagnosed Diseases Network, trio whole-exome sequencing was performed. Pathogenic variants in FBN1 and TRPS1 were identified as causing two distinct autosomal dominant conditions, each with de novo inheritance...
January 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28027854/exome-sequencing-in-children-of-women-with-skewed-x-inactivation-identifies-atypical-cases-and-complex-phenotypes
#5
Elisa Giorgio, Alessandro Brussino, Elisa Biamino, Elga Fabia Belligni, Alessandro Bruselles, Andrea Ciolfi, Viviana Caputo, Simone Pizzi, Alessandro Calcia, Eleonora Di Gregorio, Simona Cavalieri, Cecilia Mancini, Elisa Pozzi, Marta Ferrero, Evelise Riberi, Iolanda Borelli, Antonio Amoroso, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco
BACKGROUND: More than 100 X-linked intellectual disability (X-LID) genes have been identified to be involved in 10-15% of intellectual disability (ID). METHOD: To identify novel possible candidates, we selected 18 families with a male proband affected by isolated or syndromic ID. Pedigree and/or clinical presentation suggested an X-LID disorder. After exclusion of known genetic diseases, we identified seven cases whose mother showed a skewed X-inactivation (>80%) that underwent whole exome sequencing (WES, 50X average depth)...
December 19, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28017695/mir-29c-is-implicated-in-the-cardioprotective-activity-of-panax-notoginseng-saponins-against-isoproterenol-induced-myocardial-fibrogenesis
#6
Li Liu, Bingbing Ning, Jingang Cui, Teng Zhang, Yu Chen
ETHNOPHARMACOLOGICAL RELEVANCE: Panax notoginseng (Burkill) F.H. Chen (Araliaceae) has a long history of clinical application in China for the treatment of cardiovascular diseases. Panax notoginseng saponins (PNS) have been proven to be the major cardioprotective substances of Panax notoginseng (Burkill) F.H. Chen (Araliaceae). AIM OF THE STUDY: The current study further investigated the molecular mechanisms associated with the cardioprotective effect of PNS. MATERIALS AND METHODS: C57BL/6J mice were subject to isoproterenol (ISO)-induced myocardial injury in the absence or presence of PNS treatment...
December 22, 2016: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/28009413/role-of-dextran-in-maintaining-adhesive-and-stiffness-properties-of-prestripped-dmek-lenticules
#7
Mohit Parekh, Alessandro Ruzza, Rosa Di Mundo, Stefano Ferrari, Giuseppina Recchia, Hossein Elbadawy, Giuseppe Carbone, Diego Ponzin
PURPOSE: To investigate the adhesive and stiffness properties of prestripped Descemet membrane endothelial keratoplasty (DMEK) lenticules in different preservation conditions (with and without dextran). METHODS: The study included 3 conditions: (C1) tissues collected from tissue culture media (TCM), stripped and preserved in TCM; (C2) tissues collected from transport media (TM) (TCM supplemented with 6% dextran T-500), stripped and preserved in TM; and (C3) tissues collected from TCM, stripped and preserved in TM...
November 25, 2016: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28000152/inactivation-of-bone-morphogenetic-protein-1-bmp1-and-tolloid-like-1-tll1-in-cells-expressing-type-i-collagen-leads-to-dental-and-periodontal-defects-in-mice
#8
Hua Zhang, Priyam Jani, Tian Liang, Yongbo Lu, Chunlin Qin
Bone morphogenetic protein 1 (BMP1) and tolloid-like 1 (TLL1) belong to the BMP1/tolloid-like proteinase family, which cleaves secretory proteins. The constitutive deletion of the Bmp1 or Tll1 genes causes perinatal or embryonic lethality in mice. In this study, we first studied the β-galactosidase activity in mice in which an IRES-lacZ-Neo cassette was inserted in the intron of either the Bmp1 or the Tll1 gene; the β-galactosidase activities were used to reflect the expression of endogenous Bmp1 and Tll1, respectively...
December 20, 2016: Journal of Molecular Histology
https://www.readbyqxmd.com/read/27956365/raman-microspectroscopy-as-a-diagnostic-tool-for-the-non-invasive-analysis-of-fibrillin-1-deficiency-in-the-skin-and-in-the-in-vitro-skin-models
#9
Eva Brauchle, Hannah Bauer, Patrick Fernes, Alexandra Zuk, Katja Schenke-Layland, Gerhard Sengle
: Fibrillin microfibrils and elastic fibers are critical determinants of elastic tissues where they define as tissue-specific architectures vital mechanical properties such as pliability and elastic recoil. Fibrillin microfibrils also facilitate elastic fiber formation and support the association of epithelial cells with the interstitial matrix. Mutations in fibrillin-1 (FBN1) are causative for the Marfan syndrome, a congenital multisystem disorder characterized by progressive deterioration of the fibrillin microfibril/ elastic fiber architecture in the cardiovascular, musculoskeletal, ocular, and dermal system...
December 9, 2016: Acta Biomaterialia
https://www.readbyqxmd.com/read/27943413/aberrant-connective-tissue-differentiation-towards-cartilage-and-bone-underlies-human-keloids-in-african-americans
#10
Judilyn Fuentes-Duculan, Kathleen M Bonifacio, Mayte Suárez-Fariñas, Norma Kunjravia, Sandra Garcet, Tristan Cruz, Claire Q F Wang, Hui Xu, Patricia Gilleadeau, Mary Sullivan-Whalen, Michael H Tirgan, James G Krueger
Keloids are benign fibroproliferative tumors more frequently found among African Americans. Until now, keloid etiopathogenesis is not fully understood. To characterize keloids in African Americans, we performed transcriptional profiling of biopsies from large chronic keloids, adjacent nonlesional (NL) skin (n=3) and a newly formed keloid lesion using Affymetrix HGU133 2.0 plus arrays. Quantitative RT-PCR (qRT-PCR) and immunohistochemistry staining were done to confirm increased expression of relevant genes...
December 11, 2016: Experimental Dermatology
https://www.readbyqxmd.com/read/27935852/three-cases-of-japanese-acromicric-geleophysic-dysplasia-with-fbn1-mutations-a-comparison-of-clinical-and-radiological-features
#11
Kosei Hasegawa, Chikahiko Numakura, Hiroyuki Tanaka, Mahoko Furujo, Toshihide Kubo, Yousuke Higuchi, Miho Yamashita, Hirokazu Tsukahara
Acromicric dysplasia (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by short stature, acromelia, joint contracture, hepatomegaly, hoarseness and respiratory distress. Compared with GD, AD presents with milder clinical and radiological features. Radiological findings of AD and GD consist of shortened tubular bones of the hands and feet, and deformed capital femoral epiphyses. The genetic cause of AD and some cases of GD was shown to be mutations in the transforming growth factor (TGF) β-binding protein-like domain 5 of the fibrillin 1 gene (FBN1), which is also mutated in Marfan syndrome...
January 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27918018/a-planar-model-of-the-vessel-wall-from-cellularized-collagen-scaffolds-focus-on-cell-matrix-interactions-in-mono-bi-and-tri-culture-models
#12
Caroline Loy, Sébastien Meghezi, Lucie Lévesque, Daniele Pezzoli, Heena Kumra, Dieter Reinhardt, Jayachandran N Kizhakkedathu, Diego Mantovani
The acquisition of new thorough knowledge on the interactions existing between vascular cells would represent a step forward in the engineering of vascular tissues. In this light, herein we designed a physiological-like tri-culture in vitro vascular wall model using a planar cellularized collagen gel as the scaffold. The model can be obtained in 24 h and features multi-layered hierarchical organization composed of a fibroblast-containing adventitia-like layer, a media-like layer populated by smooth muscle cells and an intima-like endothelial cell monolayer...
December 20, 2016: Biomaterials Science
https://www.readbyqxmd.com/read/27914124/atypical-neonatal-marfan-syndrome-with-p-glu1073lys-mutation-of-fbn1-the-first-case-in-korea
#13
Ju Sun Heo, Joo Young Song, Eun Young Choi, Eun Hee Kim, Ji Hee Kim, So Eun Park, Ji Hyun Jeon
Neonatal Marfan syndrome (nMFS) is considered to be on the most severe end of the spectrum of type I fibrillinopathies. The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, crumpled ear, loose skin, and pulmonary emphysema.We describe a newborn male diagnosed with nMFS. He presented several atypical features, such as diaphragmatic eventration, severe hydronephrosis with hydroureter, and dilated cisterna magna...
January 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27893734/an-ipsc-derived-vascular-model-of-marfan-syndrome-identifies-key-mediators-of-smooth-muscle-cell-death
#14
Alessandra Granata, Felipe Serrano, William George Bernard, Madeline McNamara, Lucinda Low, Priya Sastry, Sanjay Sinha
Marfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in FBN1, which encodes the extracellular matrix protein fibrillin-1. To investigate the pathogenesis of aortic aneurysms in MFS, we generated a vascular model derived from human induced pluripotent stem cells (MFS-hiPSCs). Our MFS-hiPSC-derived smooth muscle cells (SMCs) recapitulated the pathology seen in Marfan aortas, including defects in fibrillin-1 accumulation, extracellular matrix degradation, transforming growth factor-β (TGF-β) signaling, contraction and apoptosis; abnormalities were corrected by CRISPR-based editing of the FBN1 mutation...
January 2017: Nature Genetics
https://www.readbyqxmd.com/read/27893044/failure-of-the-porcine-ascending-aorta-multidirectional-experiments-and-a-unifying-microstructural-model
#15
Colleen M Witzenburg, Rohit Y Dhume, Sachin B Shah, Christopher E Korenczuk, Hallie P Wagner, Patrick W Alford, Victor H Barocas
The ascending thoracic aorta is poorly understood mechanically, especially its risk of dissection. To make better predictions of dissection risk, more information about the multi-dimensional failure behavior of the tissue is needed, and this information must be incorporated into an appropriate theoretical / computational model. Towards the creation of such a model, uniaxial, equibiaxial, peel, and shear lap tests were performed on healthy porcine ascending aorta samples. Uniaxial and equibiaxial tests showed anisotropy with greater stiffness and strength in the circumferential direction...
November 18, 2016: Journal of Biomechanical Engineering
https://www.readbyqxmd.com/read/27892729/reduction-and-fragmentation-of-elastic-fibers-in-the-skin-of-obese-mice-is-associated-with-altered-mrna-expression-levels-of-fibrillin-1-and-neprilysin
#16
Hiroko Makihara, Moeko Hidaka, Yui Sakai, Yoshiko Horie, Hideaki Mitsui, Kenichi Ohashi, Yoshio Goshima, Tomoko Akase
AIM OF THE STUDY: Our previous research suggested that obesity induces structural fragility in the skin. Elastic fibers impart strength and elasticity. In this study, we determined whether elastic fibers decrease in the skin of obese mice. MATERIALS AND METHODS: To confirm alterations in elastic fiber content due to obesity, we used spontaneously obese model mice (TSOD) and control mice (TSNO). Furthermore, to evaluate the elastin structure and gene expression dependent on the severity of obesity, an obesity-enhanced mouse model was developed by feeding a high fat diet to TSOD (TSOD-HF)...
November 28, 2016: Connective Tissue Research
https://www.readbyqxmd.com/read/27879251/altered-smooth-muscle-cell-force-generation-as-a-driver-of-thoracic-aortic-aneurysms-and-dissections
#17
Dianna M Milewicz, Kathleen M Trybus, Dong-Chuan Guo, H Lee Sweeney, Ellen Regalado, Kristine Kamm, James T Stull
The importance of maintaining contractile function in aortic smooth muscle cells (SMCs) is evident by the fact that heterozygous mutations in the major structural proteins or kinases controlling contraction lead to the formation of aneurysms of the ascending thoracic aorta that predispose to life-threatening aortic dissections. Force generation by SMC requires ATP-dependent cyclic interactions between filaments composed of SMC-specific isoforms of α-actin (encoded by ACTA2) and myosin heavy chain (MYH11). ACTA2 and MYH11 mutations are predicted or have been shown to disrupt this cyclic interaction predispose to thoracic aortic disease...
January 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/27860350/enhanced-sealing-by-hydrophobic-modification-of-alaska-pollock-derived-gelatin-based-surgical-sealants-for-the-treatment-of-pulmonary-air-leaks
#18
Ryo Mizuta, Tetsushi Taguchi
Pulmonary air leaks are medical complications of thoracic surgery for which fibrin sealant is the main treatment. In this study, innovative sealants based on hydrophobically modified Alaska pollock-derived gelatin (hm-ApGltn) and a poly(ethylene)glycol-based 4-armed cross-linker (4S-PEG) have been developed and their burst strengths have been evaluated using fresh rat lung. The developed sealants show higher lung burst strength compared with the nonmodified original ApGltn (Org-ApGltn)-based sealant and a commercial fibrin sealant...
November 15, 2016: Macromolecular Bioscience
https://www.readbyqxmd.com/read/27832158/arnica-montana-stimulates-extracellular-matrix-gene-expression-in-a-macrophage-cell-line-differentiated-to-wound-healing-phenotype
#19
Marta Marzotto, Clara Bonafini, Debora Olioso, Anna Baruzzi, Laura Bettinetti, Francesca Di Leva, Elisabetta Galbiati, Paolo Bellavite
Arnica montana (Arnica m.) is used for its purported anti-inflammatory and tissue healing actions after trauma, bruises, or tissue injuries, but its cellular and molecular mechanisms are largely unknown. This work tested Arnica m. effects on gene expression using an in vitro model of macrophages polarized towards a "wound-healing" phenotype. The monocyte-macrophage human THP-1 cell line was cultured and differentiated with phorbol-myristate acetate and Interleukin-4, then exposed for 24h to Arnica m. centesimal (c) dilutions 2c, 3c, 5c, 9c, 15c or Control...
2016: PloS One
https://www.readbyqxmd.com/read/27826254/elastin-in-the-liver
#20
REVIEW
Jiří Kanta
A characteristic feature of liver cirrhosis is the accumulation of large amounts of connective tissue with the prevailing content of type I collagen. Elastin is a minor connective tissue component in normal liver but it is actively synthesized by hepatic stellate cells and portal fibroblasts in diseased liver. The accumulation of elastic fibers in later stages of liver fibrosis may contribute to the decreasing reversibility of the disease with advancing time. Elastin is formed by polymerization of tropoelastin monomers...
2016: Frontiers in Physiology
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