Results 51 to 60 of about 21,236,271 (159)
, 2023 Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutation in fibrillin-1 (FBN1). However, the molecular mechanism underlying MFS remains poorly understood. The study aimed to explore how the L-type calcium channel (CaV1.
Yongfeng Shao (4183711) +7 more
core +1 more source
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 +2 more
doaj +1 more source
Proteomic fingerprints of damage in extracellular matrix assemblies
Matrix Biology Plus, 2020 In contrast to the dynamic intracellular environment, structural extracellular matrix (ECM) proteins with half-lives measured in decades, are susceptible to accumulating damage.
Alexander Eckersley +9 more
doaj +1 more source
Comparison of Fibrillin-1 and Fibrillin-2 Gene Expression Level in Esophageal Squamous Cell Carcinoma Tumor Tissue and Tumor Margin Tissue [PDF]
Iranian Journal of Medical SciencesBackground: Esophageal cancer is one of the most devastating cancers of the gastrointestinal tract. We will compare the expression levels of fibrillin-1 (FBN1) and fibrillin-2 (FBN2), a family of extracellular matrix glycoproteins, in esophageal cancer ...
Mahsa Mahdizadeh +3 more
doaj +1 more source
Immunohistochemical Evaluation of Conjunctival Fibrillin-1 in Marfan Syndrome [PDF]
Archives of Ophthalmology, 2006 To evaluate status of conjunctival fibrillin-1 in patients with Marfan syndrome with ectopia lentis.Frozen sections of conjunctiva from 6 patients with Marfan syndrome with ectopia lentis and from 15 age-matched control subjects were stained with mouse antihuman fibrillin-1 antibody, using an avidin biotin immunoperoxidase technique.
Anuradha, Ganesh +8 more
openaire +2 more sources
P3.11 INCREASED CAROTID PLAQUE OCCURRENCE IN MEN WITH THE FIBRILLIN-1 2–3 GENOTYPE
Artery Research, 2009 Background: Fibrillin-1 is an important constituent of the vascular wall and earlier studies have indicated an effect of the fibrillin-1 2–3 genotype on blood pressure as well as aortic stiffness.
R. DeBasso +4 more
doaj +1 more source
Fibrillin-1 regulates periostin expression during maintenance of periodontal homeostasis
Journal of Dental Sciences, 2022 Background/purpose: Human periodontal ligament consists of elastic system fibers, mainly fibrillin-1 (FBN1). Periostin (POSTN) maintains periodontal homeostasis.
Yoshikazu Manabe +7 more
doaj +1 more source
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 +4 more
wiley +1 more source
A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family [PDF]
International Journal of Ophthalmology, 2019 AIM: To report a novel mutation in FBN1 gene in a Chinese consanguineous family with common Marfan syndrome (MFS) phenotype and an unusual bilateral macular degeneration.
Ping-Bo Ouyang +5 more
doaj +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 +2 more
wiley +1 more source