Results 41 to 50 of about 10,219 (178)

FBN-1, a fibrillin-related protein, is required for resistance of the epidermis to mechanical deformation during C. elegans embryogenesis

eLife, 2015
During development, biomechanical forces contour the body and provide shape to internal organs. Using genetic and molecular approaches in combination with a FRET-based tension sensor, we characterized a pulling force exerted by the elongating pharynx ...
Melissa Kelley, John Yochem, Michael Krieg, Andrea Calixto, Maxwell G Heiman, Aleksandra Kuzmanov, Vijaykumar Meli, Martin Chalfie, Miriam B Goodman, Shai Shaham, Alison Frand, David S Fay   +11 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Loss of POGLUT2/3‐mediated O‐glucosylation produces lung and aortic phenotypes reminiscent of fibrillin1 mutants

Developmental Dynamics, EarlyView.
Abstract Background Fibrillins provide a scaffold for elastic fiber formation, which enables lung recoil and aortic compliance. Abnormal fibrillin microfibrils, as in Marfan syndrome, lead to enlarged alveoli, vascular stiffening, and aneurysms. Our earlier studies suggested that fibrillin function depends on O‐glucosylation of its epidermal growth ...
Sanjiv Neupane, Angelina Almiroudis, Kaitlyn E. Donnelly, Robert S. Haltiwanger, Bernadette C. Holdener   +4 more
wiley   +1 more source

Involvement of Aquaporin 1 in the Motility and in the Production of Fibrillin 1 and Type I Collagen of Cultured Human Dermal Fibroblasts

Cosmetics, 2022
Aminocarbonyl proteins increase with age in the dermal layer. Gene Chip analysis of mRNA expression in human dermal fibroblasts cultured on collagen gels treated with glyceraldehyde as an aminocarbonyl protein and on untreated collagen gels showed a ...
Kazuhisa Maeda, Shiori Yoshida
doaj   +1 more source

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.; id_orcid 0000-0003-4759-6617, Kadler, Karl E.; id_orcid 0000-0003-4977-4683, Adrian Shuttleworth, C., Kielty, Cay M.   +7 more
openaire   +4 more sources

CD8+ T‐cells, CD86+ macrophages and TNF‐α signalling pathways are correlated with fetlock osteoarthritis in racehorses

Equine Veterinary Journal, EarlyView.
Abstract Background There is emerging evidence for the role of the immune system in osteoarthritis (OA) pathophysiology; however, little is known about how immune cells and the synovial transcriptome are altered in naturally occurring equine OA. Objectives To evaluate synovial fluid (SF) and synovial membrane (SM) immune cell populations and the SM ...
E. J. Secor, E. N. Chow, M. Thomas, L. Johnson, A. Siefert, B. Wagner, J. B. Engiles, H. L. Reesink   +7 more
wiley   +1 more source

From patient to tumor organoid: Culture protocol choice controls glioblastoma tumor architecture and identity

Brain Pathology, EarlyView.
How glioblastoma organoids are made shapes what they become. Fragment‐based cultures preserve extracellular matrix networks, cellular diversity, and primary tumor identity, whereas dissociation‐based cultures shift toward growth‐adapted states and simplified microenvironments. Abstract Patient‐derived tumor organoids are widely used in cancer research,
Jana Slovackova, Ondrej Bernatik, Katarina Cimborova, Martin Barak, Michal Hendrych, Karolina Kocourkova, Marie Sulcova, Jaroslav Olha, Katerina Amruz Cerna, Zdenek Hodny, Radim Jancalek, Dasa Bohaciakova   +11 more
wiley   +1 more source

Targeted deletion of fibrillin-1 in the mouse eye results in ectopia lentis and other ocular phenotypes associated with Marfan syndrome

Disease Models & Mechanisms, 2019
Fibrillin is an evolutionarily ancient protein that lends elasticity and resiliency to a variety of tissues. In humans, mutations in fibrillin-1 cause Marfan and related syndromes, conditions in which the eye is often severely affected.
Wendell Jones, Juan Rodriguez, Steven Bassnett   +2 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

Fibrillines et fibrillinopathies [PDF]

médecine/sciences, 1996
Microfibrils contain a variety of proteins, the most prominent of which are the two fibrillins. Fibrillins are large glycoproteins (320 kDa) ubiquitously distributed in connective tissues. Together with amorphous elastin, fibrillin-containing microfibrils form the elastic fibers.
Collod-Beroud, Gwenaëlle, Boileau, Catherine   +1 more
openaire   +2 more sources