Results 41 to 50 of about 2,560 (174)

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

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

Extracellular Matrix Molecules Facilitating Vascular Biointegration [PDF]

, 2014
All vascular implants, including stents, heart valves and graft materials exhibit suboptimal biocompatibility that significantly reduces their clinical efficacy.
Michael, Praveesuda, Ng, Martin K.C., Waterhouse, Anna, Wise, Steven G.   +3 more
core   +1 more source

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

Calcium Determines the Shape of Fibrillin [PDF]

Journal of Biological Chemistry, 1997
Velocity sedimentation experiments using authentic fibrillin-1 demonstrated sedimentation coefficients of s20,w0 = 5.1 +/- 0.1 in the Ca2+ form and s20,w0 = 6.2 +/- 0.1 in the Ca2+-free form. Calculations based on these results and the corresponding molecular mass predicted a shortening of fibrillin by approximately 25% and an increase in width of ...
Reinhardt, Dieter P., Mechling, Diane E., Boswell, Bruce A., Keene, Douglas R., Sakai, Lynn Y., Bächinger, Hans Peter   +5 more
openaire   +2 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

Biogenesis and function of fibrillin assemblies [PDF]

Cell and Tissue Research, 2009
Fibrillin-1 and fibrillin-2 are large cysteine-rich glycoproteins that serve two key physiological functions: as supporting structures that impart tissue integrity and as regulators of signaling events that instruct cell performance. The structural role of fibrillins is exerted through the temporal and hierarchical assembly of microfibrils and elastic ...
Francesco, Ramirez, Lynn Y, Sakai
openaire   +2 more sources

ELN and FBN2 gene variants as risk factors for two sports-related musculoskeletal injuries [PDF]

, 2015
The proteins ELN and FBN2 are important in extracellular matrix function. The ELN rs2071307 and FBN2 rs331079 gene variants have been associated with soft tissue pathologies. We aimed to determine whether these variants were predisposing factors for both
Collins, M, Cook, J, El Khoury, Louis, Handley, C J, Posthumus, Michael, Raleigh, Stuart M, van der Merwe, W   +6 more
core   +1 more source

Cellular Signalling Networks in High Altitude Pulmonary Hypertension: From Canonical Pathways to Emerging Targets

Cell Proliferation, EarlyView.
This review elucidates the intricate cellular signalling networks involved in high‐altitude pulmonary hypertension (HAPH), integrating canonical pathways like HIF, MAPK and BMP with emerging targets such as Wnt/β‐catenin, Notch, Hippo‐YAP and IL‐6. It highlights potential therapeutic strategies targeting these pathways to mitigate vascular remodelling ...
Sheng Ding, Ju Chen, Zhaoyang Li, Yang Yu, Weijie Wang, Yan Liao, Jin Yang, Dianxiang Lu, Yujiang Fan   +8 more
wiley   +1 more source

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