Zobrazeno 1 - 10
of 19
pro vyhledávání: '"MFS, Marfan syndrome"'
Publikováno v:
JACC Case Reports
We discuss an adolescent with Marfan syndrome and a previous aortic valve-sparing root replacement who was found to have mitral annular disjunction on surveillance cardiac imaging in the setting of recurrent palpitations. Ambulatory heart rate monito
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d7c061219a19410f5ea9b272f7dbdab
http://europepmc.org/articles/PMC8511475
http://europepmc.org/articles/PMC8511475
Autor:
Shahood Ajaz Kakroo
Publikováno v:
Indian Journal of Cardiovascular Disease in Women, Vol 5, Iss 04, Pp 322-326 (2020)
Marfan syndrome (MFS) is an inheritable disorder caused by mutation of fibrillin-1 gene. It is the most common disorder among disorders of connective tissue. Its mode of inheritance is autosomal dominant. The reported prevalence of this disorder is o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d775d440ca72393cb125c4184d23c5e1
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1708580
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1708580
Autor:
Robert W. Harrison, Sitharthan Sekar, Svati H. Shah, Sreekanth Vemulapalli, Eric Black-Maier, Rahul S. Loungani, Michael Rehorn
Publikováno v:
JACC: Case Reports, Vol 2, Iss 11, Pp 1662-1666 (2020)
JACC Case Reports
JACC Case Reports
A 69-year-old man with a history of coronary artery ectasia, potentially resulting from an underlying heritable connective tissue disorder, presented with ventricular fibrillation. Despite medical management of ischemia, he developed recurrent ventri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::427a6925914734059199154eb0f721c2
http://www.sciencedirect.com/science/article/pii/S2666084920308421
http://www.sciencedirect.com/science/article/pii/S2666084920308421
Autor:
Sally Hayes, Eleanor M. Feneck, Keith M. Meek, Philip N. Lewis, Rodrigo Barbosa de Souza, Lygia da Veiga Pereira
Publikováno v:
Experimental Eye Research
Elastic fibres provide tissues with elasticity and flexibility. In the healthy human cornea, elastic fibres are limited to the posterior region of the peripheral stroma, but their specific functional role remains elusive. Here, we examine the physica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4208deaee73405424b63e605c68a23bd
https://orca.cardiff.ac.uk/id/eprint/134650/1/1-s2.0-S0014483519307298-main.pdf
https://orca.cardiff.ac.uk/id/eprint/134650/1/1-s2.0-S0014483519307298-main.pdf
Publikováno v:
Experimental Eye Research
The cornea relies on its organised extracellular matrix for maintaining transparency and biomechanical strength. Studies have identified an elastic fibre system within the human posterior cornea, thought to allow for slight deformations in response t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5762b0ae6738deb97794f9b6bc0a7ba3
http://europepmc.org/articles/PMC6280038
http://europepmc.org/articles/PMC6280038
Publikováno v:
The Journal of Biological Chemistry
Fibrillin-1 (FBN1) is the major component of extracellular matrix microfibrils, which are required for proper development of elastic tissues, including the heart and lungs. Through protein-protein interactions with latent transforming growth factor (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cd9aca8ee9f97a789edd7834892789c
https://doi.org/10.1016/j.jbc.2021.101055
https://doi.org/10.1016/j.jbc.2021.101055
Autor:
Godwin, Alan R.F., Starborg, Tobias, Smith, David J., Sherratt, Michael J., Roseman, Alan M., Baldock, Clair
Publikováno v:
Godwin, A R F, Starborg, T, Smith, D J, Sherratt, M J, Roseman, A M & Baldock, C 2018, ' Multiscale Imaging Reveals the Hierarchical Organization of Fibrillin Microfibrils ', Journal of molecular biology, vol. 430, no. 21, pp. 4142-4155 . https://doi.org/10.1016/j.jmb.2018.08.012
Journal of Molecular Biology
Journal of Molecular Biology
Fibrillin microfibrils are evolutionarily ancient, structurally complex extracellular polymers found in mammalian elastic tissues where they endow elastic properties, sequester growth factors and mediate cell signalling; thus, knowledge of their stru
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5ef2d8f62db1a1daec422595091a09ae
https://doi.org/10.1016/j.jmb.2018.08.012
https://doi.org/10.1016/j.jmb.2018.08.012
Akademický článek
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Autor:
Sarita Agarwal, Ashok Kumar
Publikováno v:
Meta Gene
Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdd54a38f79486a510f3c6a62cad9bfc
Autor:
Margaret R, Davis, Erik, Arner, Cairnan R E, Duffy, Paul A, De Sousa, Ingrid, Dahlman, Peter, Arner, Kim M, Summers
Publikováno v:
Molecular Genetics and Metabolism
Fibrillin-1 is a large glycoprotein encoded by the FBN1 gene in humans. It provides strength and elasticity to connective tissues and is involved in regulating the bioavailability of the growth factor TGFβ. Mutations in FBN1 may be associated with d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e89461939fb86dc00b684edfc06606c9
https://pubmed.ncbi.nlm.nih.gov/27386756
https://pubmed.ncbi.nlm.nih.gov/27386756