Results 91 to 100 of about 23,678,950 (225)
Liver International, Volume 45, Issue 7, July 2025.ABSTRACT Background & Aims Fibrotic MASLD is associated with increased morbidity and mortality, often remaining asymptomatic until advanced stages of disease. Predicting fibrosis onset and progression would improve risk stratification and treatment allocation.
Koen C. van Son +18 more
wiley +1 more source
A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family [PDF]
International Journal of Ophthalmology, 2015 AIM:To characterize the disease-causing mutations in a Chinese family with ectopia lentis syndrome (ELS).METHODS:Patients and their family members were given complete physical, ophthalmic, and cardiovascular examinations.
Yi Zhai +6 more
doaj +1 more source
Pigment Cell &Melanoma Research, Volume 38, Issue 4, July 2025.ABSTRACT Intra‐tumoral heterogeneity poses a major challenge to treating and managing cancer patients. A characteristic feature of melanoma is its composition of cancer cells with typically heterogeneous content of melanin pigment, the production of which is a hallmark of normal melanocytic differentiation but of poorly understood consequence in ...
Clare Fedele +9 more
wiley +1 more source
Advanced Science, Volume 12, Issue 21, June 5, 2025.Aided by FABP5, abnormally elevated asprosin in hepatocytes enters the nucleus, targets and inhibits PPARα binding to the CPT1A promoter, thereby suppressing FAO. Circulating asprosin exacerbates insulin resistance, collectively driving MASLD progression.
Yuan‐Yuan Yu +13 more
wiley +1 more source
Antioxidant Natural Plant Constituents for Diabetic Wound Repair
MedComm – Biomaterials and Applications, Volume 4, Issue 2, June 2025.Antioxidant natural plant constituents promote diabetic wound repair by ameliorating oxidative stress, inhibiting inflammatory responses, and promoting tissue regeneration. ABSTRACT Diabetes mellitus is a prevalent metabolic disorder characterized by a prolonged hyperglycemic state, which can result in complications affecting multiple organ systems ...
Lele Meng +3 more
wiley +1 more source
Disease Models & Mechanisms, 2018 Various clinical differences have been observed between patients with the FBN1 gene mutation and those with the classical Marfan phenotype. Although FBN1 knockout (KO) or dominant-negative mutant mice are widely used as an animal model for Marfan ...
Mao Chen +12 more
semanticscholar +1 more source
Fiber Type‐Specific Proteomic Alterations in R349P Desminopathy Mice
Muscle &Nerve, Volume 71, Issue 6, Page 1113-1121, June 2025.ABSTRACT Introduction/Aims Desminopathies are a group of rare human myopathies and cardiomyopathies caused by pathogenic variants of the desmin gene. Here, we analyzed the effects of the R349P mutant desmin on the proteomic profiles of individual fiber types of murine skeletal muscle.
Britta Eggers +7 more
wiley +1 more source
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 +8 more
doaj +1 more source
Corneal characteristics in children with Marfan syndrome with or without ectopia lentis
Pediatric Investigation, Volume 9, Issue 2, Page 160-166, June 2025.Children with Marfan Syndrome who have dislocation of the natural lens of the eye also have abnormalities of eye shape and size. These abnormalities are not apparent in Marfan's children who do not have lens dislocation, implying that the children with lens dislocation have a more severe genetic defect of fibrillin proteins.
Marisa O'Brien, Lawrence Tychsen
wiley +1 more source
Physiological Reports, Volume 13, Issue 12, June 2025.Abstract Asprosin, a protein that enhances insulin resistance by stimulating hepatic glucose secretion, is linked to obesity, metabolic disorders, and cardiovascular diseases. This systematic review and meta‐analysis investigate the influence of exercise training (ET) on circulating concentrations of asprosin.
Mohammad Rahman Rahimi +3 more
wiley +1 more source