Results 71 to 80 of about 20,277 (271)

Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice. [PDF]

PLoS Genetics, 2015
Fibrillins are large extracellular macromolecules that polymerize to form the backbone structure of connective tissue microfibrils. Mutations in the gene for fibrillin-1 cause the Marfan syndrome, while mutations in the gene for fibrillin-2 cause ...
Gerhard Sengle, Valerie Carlberg, Sara F Tufa, Noe L Charbonneau, Silvia Smaldone, Eric J Carlson, Francesco Ramirez, Douglas R Keene, Lynn Y Sakai   +8 more
doaj   +1 more source

Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing

Stem Cell Research, 2023
Marfan syndrome is an autosomal dominant genetic disorder resulting from pathogenic variants in FBN1 gene. FBN1 encodes for fibrillin-1, an important extracellular matrix protein.
Jeffrey Aalders, Laurens Léger, Anthony Demolder, Laura Muiño Mosquera, Paul Coucke, Björn Menten, Julie De Backer, Jolanda van Hengel   +7 more
doaj   +1 more source

Fibrillins Can Co-assemble in Fibrils, but Fibrillin Fibril Composition Displays Cell-specific Differences [PDF]

Journal of Biological Chemistry, 2003
Fibrillins are microfibril-forming extracellular matrix macromolecules that modulate skeletal development. In humans, mutations in fibrillins result in long bone overgrowth as well as other distinct phenotypes. Whether fibrillins form independent microfibrillar networks or can co-polymerize, forming a single microfibril, is not known.
Charbonneau, Noe L., Dzamba, Bette J., Ono, Robert N., Keene, Douglas R., Corson, Glen M., Reinhardt, Dieter P., Sakai, Lynn Y.   +6 more
openaire   +2 more sources

Uncoupling TGFβ1 signalling from collagen protein synthesis in Dupuytren's disease

The Journal of Pathology, EarlyView.
Abstract Dupuytren's disease is a fibroproliferative disorder of the palmer fascia (PF) characterised by flexion contractures in the hand. Dupuytren's disease can be treated surgically, but disease recurrence rates are high, potentially due to continual production of matrisomal proteins.
Gabriella Cooper, Jade A Gumbs, Sahem Alkharabsheh, Katie J Lee, Alan Carter, Hannah Coleman, Niamh S O'Heneghan‐Yates, Rama Ijaz, Emma Beamish, Lisa A Menezes, Triantafillos Liloglou, Peter D Clegg, Elizabeth G. Canty‐Laird   +12 more
wiley   +1 more source

Progressive Microstructural Deterioration Dictates Evolving Biomechanical Dysfunction in the Marfan Aorta

Frontiers in Cardiovascular Medicine, 2021
Medial deterioration leading to thoracic aortic aneurysms arises from multiple causes, chief among them mutations to the gene that encodes fibrillin-1 and leads to Marfan syndrome.
Cristina Cavinato, Minghao Chen, Dar Weiss, Maria Jesús Ruiz-Rodríguez, Martin A. Schwartz, Martin A. Schwartz, Jay D. Humphrey, Jay D. Humphrey   +7 more
doaj   +1 more source

Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development

Matrix Biology, 2002
The extracellular glycoproteins fibrillin-1 and fibrillin-2 are major components of connective tissue microfibrils. Mutations in the fibrillin-1 and fibrillin-2 genes are responsible for the phenotypical manifestations of Marfan syndrome and congenital contractural arachnodactyly respectively, which emphasizes their essential roles in developmental ...
Quondamatteo, Fabio, Reinhardt, D. P., Charbonneau, N. L., Pophal, G., Sakai, L. Y., Herken, R.   +5 more
openaire   +3 more sources

The Supramolecular Organization of Fibrillin-Rich Microfibrils [PDF]

The Journal of Cell Biology, 2001
We propose a new model for the alignment of fibrillin molecules within fibrillin microfibrils. Automated electron tomography was used to generate three-dimensional microfibril reconstructions to 18.6-Å resolution, which revealed many new organizational details of untensioned microfibrils, including heart-shaped beads from which two arms emerge, and ...
Baldock, Clair, Koster, Abraham J., Ziese, Ulrike, Rock, Matthew J., Sherratt, Michael J., Kadler, Karl E., Adrian Shuttleworth, C., Kielty, Cay M.   +7 more
openaire   +4 more sources

Integrated multi‐omics analysis reveals metabolic reprogramming as a key driver of angiotensin II‐induced vascular remodeling

VIEW, EarlyView.
This study investigates the molecular alterations underlying angiotensin II (Ang II)‐induced vascular remodeling in cardiovascular diseases using a multi‐omics approach. Through data exploration and integrated multi‐omics analysis, our findings reveal that Ang II‐driven vascular injury in vascular smooth muscle cells is mediated by metabolic ...
Yiwei Hu, Dan Zhao, Lingyan Zhong, Jianxujie Zheng, Dongxue Zhang, Enhui Wu, Qian Shi, Liang Qiao, Ling Lin   +8 more
wiley   +1 more source

Higher blood pressure in elderly hypertensive females, with increased arterial stiffness and blood pressure in females with the Fibrillin-1 2/3 genotype

BMC Cardiovascular Disorders, 2020
Background Elderly patients have a relatively high cardiovascular risk due to increased arterial stiffness, elevated blood pressure and decreased amounts of elastin in the arteries.
Ida Åström Malm, Urban Alehagen, Peter Blomstrand, Ulf Dahlström, Rachel De Basso   +4 more
doaj   +1 more source

An amphipathic helix drives interaction of Fibrillins with plastoglobule lipid droplets [PDF]

, 2023
Kiran‐Kumar Shivaiah, Duncan Boren, Andrés Herrera-Tequia, Josh V. Vermaas, Peter K. Lundquist   +4 more
openalex   +1 more source