Results 41 to 50 of about 10,140 (168)

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, Yuan Zhao, Ying-Qian Peng, Lu-Si Zhang, Jian Cao, Yun Li   +5 more
doaj   +1 more source

A Disulfide‐Sticker Strategy for Marine Adhesive Coatings: From Deciphering Self‐Assembly Mechanism to Functional Application in Hair Regeneration

Advanced Science, EarlyView.
A disulfide‐sticker strategy, coupled with Ca2+ coordination, drives the hierarchical self‐assembly of a recombinant scallop adhesive protein into fishnet‐like nanostructures, affording a coating with versatile wet adhesion and intrinsic antioxidant activity. This biocompatible coating markedly promotes hair regeneration by activating follicular niches,
Lulu Wang, Juan Yang, Xin Jiang, Zhanghui Zheng, Hongyu Wei, Na Li, Xiangqiang Chu, Weizhi Liu   +7 more
wiley   +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, Charles, Smith, Wilson, Chan, Sheila, Unger, Nada, Quercia, Maurice, Godfrey, Stephen, Kraft, Raymond, Buncic, Alex, Levin   +8 more
openaire   +2 more sources

Annuloaortic ectasia in a dog: long-term follow-up and immunofluorescent study

Veterinary Quarterly, 2021
A 4 month-old, 14.8 kg, male Newfoundland dog was presented for cardiovascular evaluation following detection of a heart murmur. Echocardiography revealed enlargement of the sinuses of Valsalva and marked, diffuse dilation of the ascending aorta ...
Etienne Côté, Rong-Mo Zhang, Nicole Kaiser, Dieter P. Reinhardt, Chelsea K. Martin   +4 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

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Loss of POGLUT2/3‐mediated O‐glucosylation produces lung and aortic phenotypes reminiscent of fibrillin1 mutants

Developmental Dynamics, EarlyView.
Abstract Background Fibrillins provide a scaffold for elastic fiber formation, which enables lung recoil and aortic compliance. Abnormal fibrillin microfibrils, as in Marfan syndrome, lead to enlarged alveoli, vascular stiffening, and aneurysms. Our earlier studies suggested that fibrillin function depends on O‐glucosylation of its epidermal growth ...
Sanjiv Neupane, Angelina Almiroudis, Kaitlyn E. Donnelly, Robert S. Haltiwanger, Bernadette C. Holdener   +4 more
wiley   +1 more source

Fibrillin-1 microfibril deposition is dependent on fibronectin assembly [PDF]

Journal of Cell Science, 2008
Newly deposited microfibrils strongly colocalise with fibronectin in primary fibroblasts. Microfibril formation is grossly inhibited by fibronectin depletion, but rescued by supplementation with exogenous cellular fibronectin. As integrin receptors are key determinants of fibronectin assembly, we investigated whether they also influenced microfibril ...
Kinsey, Rachel, Williamson, Matthew R., Chaudhry, Shazia, Mellody, Kieran T., McGovern, Amanda, Takahashi, Seiichiro, Shuttleworth, C. Adrian, Kielty, Cay M.   +7 more
openaire   +4 more sources

CD8+ T‐cells, CD86+ macrophages and TNF‐α signalling pathways are correlated with fetlock osteoarthritis in racehorses

Equine Veterinary Journal, EarlyView.
Abstract Background There is emerging evidence for the role of the immune system in osteoarthritis (OA) pathophysiology; however, little is known about how immune cells and the synovial transcriptome are altered in naturally occurring equine OA. Objectives To evaluate synovial fluid (SF) and synovial membrane (SM) immune cell populations and the SM ...
E. J. Secor, E. N. Chow, M. Thomas, L. Johnson, A. Siefert, B. Wagner, J. B. Engiles, H. L. Reesink   +7 more
wiley   +1 more source

The Diversity of Fibrillin Functions: Lessons from the Periodontal Ligament

Cells
Marfan syndrome is caused by a mutation in the FBN1 gene encoding fibrillin-1. This extracellular matrix glycoprotein, which assembles into microfibrils, is best known for its scaffolding role in the production of elastic fibers responsible for ...
Elisabeth Genot, Tala Al Tabosh, Sylvain Catros, Florian Alonso, Damien Le Nihouannen   +4 more
doaj   +1 more source