Results 61 to 70 of about 20,277 (271)

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

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

The tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils [PDF]

, 1993
Mice carrying the Tight skin (Tsk) mutation harbor a genomic duplication within the fibrillin-1 (Fbn 1) gene that results in a larger than normal in-frame Fbn 1 transcript.
Jimenez, Sergio A., Kielty, Cay M., Peters, Reiner, Raghunath, Michael, Sherratt, Michael J., Shuttleworth, C. Adrian, Siracusa, Linda D.   +6 more
core   +1 more source

Nanopatterned acellular valve conduits drive the commitment of blood-derived multipotent cells [PDF]

, 2016
Considerable progress has been made in recent years toward elucidating the correlation among nanoscale topography, mechanical properties, and biological behavior of cardiac valve substitutes.
Aguiari, Paola, Barbon, Silvia, Bertalot, Thomas, Conconi, MARIA TERESA, DI LIDDO, Rosa, Gandaglia, Alessandro, Gerosa, Gino, Iop, Laura, Mandoli, Amit, Parnigotto, PIER PAOLO, Schrenk, Sandra, Tasso, Alessia   +11 more
core   +2 more sources

Chromoplast biogenesis in Chelidonium majus petals

Acta Societatis Botanicorum Poloniae, 2011
The differentiation of chromoplasts, with special emphasis on the formation and the organisation of chromoplast fibrils, was followed in the petals of the greater celandine, Chelidonium majus L.
Nikola Ljubešić, Mercedes Wrischer
doaj   +1 more source

Reduced Dietary Protein Induces Changes in the Dental Proteome

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
Low dietary protein (10%) from normal (20%) does change protein expression in tooth proteome and alter developmental pathways. Among the significant protein expressions changes are actin‐based myosins, tooth, and bone development proteins. Perplexingly tooth size is not altered, suggesting more nuanced phenotypic response to low dietary protein in ...
Robert W. Burroughs, Christopher J. Percival, Natasha S. Vitek   +2 more
wiley   +1 more source

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

Fibrillin: from microfibril assembly to biomechanical function [PDF]

Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences, 2002
Fibrillins form the structural framework of a unique and essential class of extracellular microfibrils that endow dynamic connective tissues with long–range elasticity. Their biological importance is emphasized by the linkage of fibrillin mutations to Marfan syndrome and related connective tissue disorders, which are associated with severe ...
Baldock, C, Kielty, Cay, Sherratt, MJ, Rock, MJ, Lee, D, Shuttleworth, CA.   +5 more
openaire   +6 more sources

Dual Topical Therapy. The Future of Stretch Marks?

JEADV Clinical Practice, EarlyView.
ABSTRACT Striae distensae, or stretch marks, are linear scars that result from mechanical stretching of dermal tissue. They are most prevalent in women and in pregnancy, puberty, and obesity. The psychological and cosmetic symptoms may present a pathological synergy with the physical distress that stretch marks represent, especially if the patient is ...
Vicente Manuel Cisneros Rosell, Ramon Grimalt   +1 more
wiley   +1 more source

Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model [PDF]

, 2014
Loeys-Dietz syndrome (LDS) is an autosomal dominant arterial aneurysm disease belonging to the spectrum of transforming growth factor beta (TGF beta)-associated vasculopathies. In its most typical form it is characterized by the presence of hypertelorism,
Callewaert, Bert, Campens, Laurence, Casteleyn, Christophe, Cornillie, Pieter, Coucke, Paul, De Backer, Julie, De Paepe, Anne, De Vos, Filip, Deleye, Steven, Dietz, Harry, Essers, Jeroen, Loeys, Bart, Renard, Marjolijn, Segers, Patrick, Staelens, Steven, Trachet, Bram, van Heijningen, Paula, Vandeghinste, Bert   +17 more
core   +5 more sources