Cargando…

ADAMTS10-mediated tissue disruption in Weill–Marchesani syndrome

Fibrillin microfibrils are extracellular matrix assemblies that form the template for elastic fibres, endow blood vessels, skin and other elastic tissues with extensible properties. They also regulate the bioavailability of potent growth factors of the TGF-β superfamily. A disintegrin and metallopro...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mularczyk, Ewa J, Singh, Mukti, Godwin, Alan R F, Galli, Francessco, Humphreys, Neil, Adamson, Antony D, Mironov, Aleksandr, Cain, Stuart A, Sengle, Gerhard, Boot-Handford, Ray P, Cossu, Giulio, Kielty, Cay M, Baldock, Clair
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2018
Materias:	General Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196651/ https://www.ncbi.nlm.nih.gov/pubmed/30060141 http://dx.doi.org/10.1093/hmg/ddy276

Ejemplares similares

Fibrillin-1 Mutations Causing Weill-Marchesani Syndrome and Acromicric and Geleophysic Dysplasias Disrupt Heparan Sulfate Interactions
por: Cain, Stuart A., et al.
Publicado: (2012)

ADAMTS-10 and -6 differentially regulate cell-cell junctions and focal adhesions
por: Cain, Stuart A., et al.
Publicado: (2016)

Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome
por: Steinkellner, Hannes, et al.
Publicado: (2015)

A Case of Weill-Marchesani Syndrome with Inversion of Chromosome 15
por: Chung, Jae Lim, et al.
Publicado: (2007)

Retinal Vascular Tortuosity in a Patient with Weill-Marchesani Syndrome
por: Gallagher, Kevin, et al.
Publicado: (2011)

Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome
por: Shah, Mohd Hussain, et al.
Publicado: (2014)

Corneal Microstructural Analysis in Weill-Marchesani Syndrome by In Vivo Confocal Microscopy
por: Roszkowska, Anna M, et al.
Publicado: (2011)

Fibrin Glue-Assisted Intraocular Lens Fixation in Weill–Marchesani Syndrome
por: Kalamkar, Charudutt, et al.
Publicado: (2019)

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features
por: Evans, Daniel R., et al.
Publicado: (2020)

Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation
por: Bhakta, Pradipta, et al.
Publicado: (2011)

Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance
por: Yang, Guo-Yuan, et al.
Publicado: (2021)

Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature
por: Motawa, Mossa N.A. Al, et al.
Publicado: (2021)

Weill-Marchesani syndrome 4 caused by compound heterozygosity of a maternal submicroscopic deletion and a paternal nonsense variant in the ADAMTS17 gene: A case report
por: Yu, Xiaowei, et al.
Publicado: (2022)

Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review
por: Guo, Hui, et al.
Publicado: (2015)

A Pedigree Report of a Rare Case of Weill–Marchesani Syndrome with New Compound Heterozygous LTBP2 Mutations
por: Lin, ZhiHong, et al.
Publicado: (2021)

Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome
por: Li, Mojiang, et al.
Publicado: (2022)

Abnormal lens thickening in a child with Weill–Marchesani syndrome 4: A 3-year follow-up case report
por: Huang, Junting, et al.
Publicado: (2023)

Tumour necrosis factor alpha, lipid peroxidation and NO* are increased and associated with decreased free-radical scavenging enzymes in patients with Weill-Marchesani syndrome.
por: Evereklioglu, Cem, et al.
Publicado: (2004)

A Novel Missense Mutation in the TGF-β-binding Protein-Like Domain 3 of FBN1 Causes Weill–Marchesani Syndrome with Intellectual Disability
por: Hassani, Mahdieh, et al.
Publicado: (2023)

Defining Elastic Fiber Interactions by Molecular Fishing: AN AFFINITY PURIFICATION AND MASS SPECTROMETRY APPROACH
por: Cain, Stuart A., et al.
Publicado: (2009)

Independent multimerization of Latent TGFβ Binding Protein-1 stabilized by cross-linking and enhanced by heparan sulfate
por: Troilo, Helen, et al.
Publicado: (2016)

Differential Regulation of Elastic Fiber Formation by Fibulin-4 and -5
por: Choudhury, Rawshan, et al.
Publicado: (2009)

Response to Galbraith and Weill
por: Harber, Philip, et al.
Publicado: (2009)

Latent TGFβ complexes are transglutaminase cross-linked to fibrillin to facilitate TGFβ activation
por: Lockhart-Cairns, Michael P., et al.
Publicado: (2022)

Structural studies of elastic fibre and microfibrillar proteins
por: Singh, Mukti, et al.
Publicado: (2021)

Internal cleavage and synergy with twisted gastrulation enhance BMP inhibition by BMPER
por: Lockhart-Cairns, Michael P., et al.
Publicado: (2019)

The role of fibrillin and microfibril binding proteins in elastin and elastic fibre assembly
por: Godwin, Alan R.F., et al.
Publicado: (2019)

Ute Lemper sings Kurt Weill
Publicado: (1988)

An International Virtual Classroom: The Emergency Department Experience at Weill Cornell Medicine and Weill Bugando Medical Center in Tanzania
por: Jiang, Lynn G., et al.
Publicado: (2021)

Ute Lemper sings Kurt Weill Vol. 2.
por: Weill, Kurt, 1900-1950
Publicado: (1993)

Fibrillin microfibrils and elastic fibre proteins: Functional interactions and extracellular regulation of growth factors
por: Thomson, Jennifer, et al.
Publicado: (2019)

Julie Wilson sings the Kurt Weill songbook
Publicado: (1988)

BMP antagonists in tissue development and disease
por: Correns, Annkatrin, et al.
Publicado: (2021)

A Novel Mutation in the ADAMTS10 Associated with Weil–Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart
por: Levitas, Aviva, et al.
Publicado: (2023)

Epithelial–mesenchymal status influences how cells deposit fibrillin microfibrils
por: Baldwin, Andrew K., et al.
Publicado: (2014)

The Supramolecular Organization of Fibrillin-Rich Microfibrils
por: Baldock, Clair, et al.
Publicado: (2001)

Extracellular Regulation of Bone Morphogenetic Protein Activity by the Microfibril Component Fibrillin-1
por: Wohl, Alexander P., et al.
Publicado: (2016)

Collagen VI, Conformation of A-domain Arrays and Microfibril Architecture
por: Beecher, Nicola, et al.
Publicado: (2011)

Fell‐Muir Lecture: Fibrillin microfibrils: structural tensometers of elastic tissues?
por: Kielty, Cay M.
Publicado: (2017)

Weill Cornell Medicine: A History of Cornell’s Medical School
por: Becker, Danielle
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_p22auudiibciejhpa2k68f7cic