Results 51 to 60 of about 9,961 (164)

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

Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.

PLoS ONE, 2012
The extracellular glycoprotein fibrillin-1 forms microfibrils that act as the template for elastic fibers. Most mutations in fibrillin-1 cause Marfan syndrome with severe cardiovascular and ocular symptoms, and tall stature.
Stuart A Cain, Amanda McGovern, Andrew K Baldwin, Clair Baldock, Cay M Kielty   +4 more
doaj   +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

The hidden science of haptics: A pedagogical review of tactile evaluation in cosmetics

International Journal of Cosmetic Science, EarlyView.
This review explores the physiological basis of tactile perception and critically examines classical and emerging sensory methods used in cosmetics, advocating for broader methodological integration and recognition of sensory analysis in the field. Abstract Sensory analysis is a cornerstone of cosmetic development, yet remains underrepresented in peer ...
Morgane Postec, Daria Terescenco, Ecaterina Gore   +2 more
wiley   +1 more source

Fibrillin-3 expression in human development [PDF]

Matrix Biology, 2011
Fibrillin proteins are the major components of extracellular microfibrils found in many connective tissues. Fibrillin-1 and fibrillin-2 are well studied and mutations in these proteins cause a number of fibrillinopathies including Marfan syndrome and congenital contractural arachnodactyly, respectively.
Sabatier, Laetitia, Miosge, Nicolai, Hubmacher, Dirk, Lin, Guoqing, Davis, Elaine C., Reinhardt, Dieter P.   +5 more
openaire   +3 more sources

The tympanic covering layer contributes to basilar membrane elasticity potentially influencing human frequency resolution and speech perception

Journal of Anatomy, EarlyView.
In this study we show for the first time that the human basilar membrane contains elastin produced by the so‐called tympanic covering layer. It is believed to play an important functional role in human cochlear tuning, particularly low frequencies linked to our remarkable speech and music perception.
Wei Liu, Claudia Steinacher, Alexander Glueckert, Rudolf Glueckert, Hao Li, Karin Staxäng, Anneliese Schrott‐Fischer, Hanif M. Ladak, Sumit Agrawal, Helge Rask‐Andersen   +9 more
wiley   +1 more source

The influence of fibrillin‐1 and physical activity upon tendon tissue morphology and mechanical properties in mice

Physiological Reports, 2019
Fibrillin‐1 mutations cause pathological changes in connective tissue that constitute the complex phenotype of Marfan syndrome. In this study, we used fibrillin‐1 hypomorphic and haploinsufficient mice (Fbn1mgr/mgR and Fbn1+/− mice, respectively) to ...
Peter H. T. Tran, Tanja Skrba, Elisabeth Wondimu, Giuseppina Galatioto, René Brüggebusch Svensson, Annesofie T. Olesen, Abigail L. Mackey, S. Peter Magnusson, Francesco Ramirez, Michael Kjaer   +9 more
doaj   +1 more source

Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias

Frontiers in Genetics, 2021
The term “fibrillinopathies” gathers various diseases with a wide spectrum of clinical features and severity but all share mutations in the fibrillin genes.
Pauline Arnaud, Pauline Arnaud, Zakaria Mougin, Catherine Boileau, Catherine Boileau, Carine Le Goff   +5 more
doaj   +1 more source

A Chemical Probe for Increasing Leaf Tocopherol Levels by Coordinated Modulation of Biosynthesis, Competition and Storage

Plant Biotechnology Journal, EarlyView.
ABSTRACT Plant biofortification with phytonutrients typically relies on metabolic engineering strategies known as ‘push’ (enhancing biosynthetic flux), ‘block’ (inhibiting competing pathways) and ‘pull’ (promoting metabolite storage). Here, we describe a novel synthetic compound, X57, that simultaneously targets biosynthesis, competition and storage to
Pablo Perez‐Colao, Gaetan Glauser, Jacobo Cruces, Jorge Lozano‐Juste, Manuel Rodriguez‐Concepcion   +4 more
wiley   +1 more source