Results 31 to 40 of about 1,605 (151)

Fibrillin-1 Misfolding and Disease

Antioxidants & Redox Signaling, 2006
Fibrillin-1 is a 350 kDa calcium-binding protein which assembles to form 10-12 nm microfibrils in the extracellular matrix (ECM). The structure of fibrillin-1 is dominated by two types of disulfide-rich motifs, the calcium- binding epidermal growth factor-like (cbEGF) and transforming growth factor beta binding protein-like (TB) domains.
Whiteman, P, Hutchinson, S, Handford, P
openaire   +3 more sources

Dynamic Self‐Clickable Decellularized Matrix Hydrogels for Regulating Vascularity and Enhancing Muscle Regeneration

Advanced Science, EarlyView.
Dynamic decellularized hydrogels are prepared using bovine decellularized small intestine submucosa (SIS) norbornene (dSIS‐NB). Bovine dSIS contained significant amounts of disulfide‐rich fibrillin‐I, enabling ‘self‐clickable’ thiol‐norbornene gelation and spatiotemporal tuning of hydrogel physicochemical properties.
Van Thuy Duong, Tuba Marjan, Ngoc Ha Luong, Taimoor H. Qazi, Chien‐Chi Lin   +4 more
wiley   +1 more source

Microenvironmental Regulation by Fibrillin-1

PLoS Genetics, 2012
Fibrillin-1 is a ubiquitous extracellular matrix molecule that sequesters latent growth factor complexes. A role for fibrillin-1 in specifying tissue microenvironments has not been elucidated, even though the concept that fibrillin-1 provides extracellular control of growth factor signaling is currently appreciated.
Sengle, Gerhard, Tsutsui, Ko, R. Keene, Douglas, Tufa, Sara F., Carlson, Eric J., Charbonneau, Noe L., Ono, Robert N., Sasaki, Takako, Wirtz, Mary K., Samples, John R., Fessler, Liselotte I., Fessler, John H., Sekiguchi, Kiyotoshi, Hayflick, Susan J., Sakai, Lynn Y.   +14 more
openaire   +5 more sources

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Putative functions of extracellular matrix glycoproteins in secondary palate morphogenesis

Frontiers in Physiology, 2012
Cleft palate is a common birth defect in humans. Elevation and fusion of paired palatal shelves are coordinated by growth and transcription factors, and mutations in these can cause malformations.
Rocca ed'Amaro, Rolf eScheidegger, Susan eBlumer, Pawel ePazera, Christos eKatsaros, Daniel eGraf, Matthias eChiquet   +6 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

A patient with Marfan syndrome in a general practitioner’s office

Pediatria i Medycyna Rodzinna, 2015
Marfan syndrome is a disorder of the connective tissue (fibrillins and elastins). It is an autosomal dominant disease associated with a defect of chromosome 15 which encodes fibrillin-1.
Magdalena Czerżyńska, Zuzanna Judyta Tyrakowska, Anna Wiśniewska, Emilia Rozwadowska   +3 more
doaj   +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

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

Cancer Risk in Marfan Syndrome: A Swedish Population‐Based Cohort Study

International Journal of Cancer, EarlyView.
The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Ida Nordgren, Anna Skarin Nordenvall, Alexandra Wachtmeister, Fulya Taylan, Yunxia Lu, Christina Norrby, Anna Lindstrand, Giedre Grigelioniene, Giorgio Tettamanti   +8 more
wiley   +1 more source