Results 51 to 60 of about 1,871 (159)

Targeted deletion of fibrillin-1 in the mouse eye results in ectopia lentis and other ocular phenotypes associated with Marfan syndrome

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, Juan Rodriguez, Steven Bassnett   +2 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

Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study

BMC Musculoskeletal Disorders, 2022
Background Fibrillin-1 (FBN1) is an extracellular matrix glycoprotein essential to the structural component of microfibrils and FBN1 gene polymorphisms can be associated with adolescent idiopathic scoliosis (AIS) susceptibility.
Gustavo Borges Laurindo de Azevedo, Jamila Alessandra Perini, Antônio Eulálio Pedrosa Araújo Junior, Luis Antonio Medeiros Moliterno, Rodrigo Mantelatto Andrande, João Antonio Matheus Guimarães, Helton Luiz Aparecido Defino   +6 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 Sciences
Background: 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, Marie Saghaeian Jazi, Seyyed Mostafa Mir, Seyyed Mehdi Jafari   +3 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, Momotoshi Shiga, Kaori Kometani-Gunjigake, Kayoko Nakao-Kuroishi, Masahiro Mizuhara, Takashi Toyono, Yuji Seta, Tatsuo Kawamoto   +7 more
doaj   +1 more source

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

Protein Interaction Studies of MAGP-1 with Tropoelastin and Fibrillin-1 [PDF]

Journal of Biological Chemistry, 2001
Elastic fibers consist primarily of an amorphous elastin core associated with microfibrils, 10-12 nm in diameter, containing fibrillins and microfibril-associated glycoproteins (MAGPs). To investigate the interaction of MAGP-1 with tropoelastin and fibrillin-1, we expressed human MAGP-1 as a T7-tag fusion protein in Escherichia coli.
Jensen, Sacha A., Reinhardt, Dieter P., Gibson, Mark A., Weiss, Anthony S.   +3 more
openaire   +3 more sources

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome

Molecular Genetics & Genomic Medicine, 2020
Background Marfan syndrome (MFS) is a dominant monogenic disorder caused by mutations in fibrillin 1 (FBN1). Rarely, compound heterozygosity for FBN1 mutations has been described. Methods A large kindred with MFS was assessed clinically over decades, and
Aideen M. McInerney‐Leo, Jennifer West, Lawrie Wheeler, Paul J. Leo, Kim M. Summers, Lisa Anderson, Matthew A. Brown, Malcolm West, Emma L. Duncan   +8 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, Matiss Ozols, Ronan O'Cualain, Emma-Jayne Keevill, April Foster, Suzanne Pilkington, David Knight, Christopher E.M. Griffiths, Rachel E.B. Watson, Michael J. Sherratt   +9 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, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source