Results 61 to 70 of about 9,471 (216)
MiR-503 promotes wound healing of diabetic foot ulcer by targeting FBN1
Asian Pacific Journal of Tropical Medicine, 2018 Objective: To highlight the relationship between miR-503 and wound healing of diabetic foot ulcer (DFU). Methods: Microarray analysis was used to detect the dysregulated miRNAs between the DFU tissues and normal tissues.
Ming-Li Wang +6 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2023 Background Marfan syndrome (MFS) is a clinically heterogeneous hereditary connective tissue disorder. Severe cardiovascular manifestations (i.e., aortic aneurysm and dissection) are the most life‐threatening complications. Most of the cases are caused by
Gergely Buki +6 more
doaj +1 more source
Epileptic Disorders, EarlyView.Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley +1 more source
Fibrillin-1 Regulates Arteriole Integrity in the Retina
Biomolecules, 2022 Fibrillin-1 is an extracellular matrix protein that assembles into microfibrils that provide critical functions in large blood vessels and other tissues.
Florian Alonso +4 more
doaj +1 more source
Small, EarlyView.We introduce a versatile 3D platform that recreates key physical and biological features of the human bone marrow. By integrating tunable silk biomaterials, stromal cells, and human hematopoietic progenitors, the model captures both healthy and diseased microenvironments, analysis of blood formation, and its disruption in pathological conditions ...
Christian A. Di Buduo +13 more
wiley +1 more source
Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients [PDF]
Genetics Research, 2016 SummaryMarfan syndrome is an autosomal dominant connective tissue disorder, predominantly affecting the ocular, skeletal and cardiovascular systems. Here, we present the results of the first genetic testing in 40 Ukrainian Marfan (-like) patients and 10 relatives.
Zhurayev, Rustam +6 more
openaire +4 more sources
Andrology, EarlyView.ABSTRACT Background Oligoasthenozoospermia is a leading cause of male infertility and has been increasingly associated with the global surge in obesity and exposure to reproductive toxicants. Despite extensive research on each factor individually, their combined pathological effects remain poorly understood.
Yunlong Yao +12 more
wiley +1 more source
Advances in the genetics of refractive errors: Contributions from the CREAM consortium
Acta Ophthalmologica, EarlyView.Abstract The Consortium for Refractive Error and Myopia (CREAM) was established in 2011, bringing together an international team of researchers studying more than 30 cohorts. Since its establishment, CREAM has played a pivotal role in research investigating the genetics of myopia and other refractive errors, serving as a key driver of progress in the ...
Sze Wai Rosa Li +11 more
wiley +1 more source
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients [PDF]
Human Mutation, 2010 Ectopia lentis (EL) is genetically heterogeneous with both autosomal-dominant and -recessive forms. The dominant disorder can be caused by mutations in FBN1, at the milder end of the type-1 fibrillinopathies spectrum. Recently in a consanguineous Jordanian family, recessive EL was mapped to locus 1q21 containing the ADAMTSL4 gene and a nonsense ...
Aragon-Martin, Jose Antonio +8 more
openaire +2 more sources
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