keyword
MENU ▼
Read by QxMD icon Read
search

Fibrillin

keyword
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
#1
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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28117189/large-family-with-marfan-syndrome-demonstrating-the-pathogenicity-of-a-synonymous-variant-p-ile2118-in-the-fibrillin-1-gene
#6
Juan Pablo Trujillo-Quintero, José María Herrera-Noreña, Víctor X Mosquera-Rodríguez, Xusto Fernández-Fernández, José Manuel Vázquez-Rodríguez, Roberto Barriales-Villa
No abstract text is available yet for this article.
January 20, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28112175/luteolin-7-diglucuronide-attenuates-isoproterenol-induced-myocardial-injury-and-fibrosis-in-mice
#7
Bing-Bing Ning, Yong Zhang, Dan-Dan Wu, Jin-Gang Cui, Li Liu, Pei-Wei Wang, Wen-Jian Wang, Wei-Liang Zhu, Yu Chen, Teng Zhang
Myocardial injury and ensuing fibrotic alterations impair normal heart architecture and cause cardiac dysfunction. Oxidative stress has been recognized as a key player in the pathogenesis of cardiac injury and progression of cardiac dysfunction, and promoting fibrosis. In the current study we investigated whether luteolin-7-diglucuronide (L7DG), a naturally occurring antioxidant found in edible plants, could attenuate isoproterenol (ISO)-induced myocardial injury and fibrosis in mice and the underlying mechanisms...
January 23, 2017: Acta Pharmacologica Sinica
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
18871
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"