Results 61 to 70 of about 9,183 (184)
Genetic testing for Marfan syndrome
The EuroBiotech Journal, 2018 Marfan syndrome (MFS) is an inherited connective tissue disorder caused by heterozygous mutations in the FBN 1 gene. Clinical manifestations of MFS include aortic dilatation and dissection, as well as cardiac valvular, ocular, skeletal and neurological ...
Rakhmanov Yeltay +6 more
doaj +1 more source
British Journal of Pharmacology, EarlyView.Ischaemic stroke is characterised by acute cerebrovascular occlusion and blood–brain barrier (BBB) breakdown. Our results indicated that the histone deacetylase inhibitor suberoylanilide hydroxamic acid (SAHA) ameliorated the loss of BBB integrity, changed the morphology of brain endothelial cells, increased the level of basement membrane and ...
Anikó Szecskó +14 more
wiley +1 more source
Marfan syndrome with a complex chromosomal rearrangement including deletion of the
Molecular Cytogenetics, 2012 Background The majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular cytogenetic techniques, were ...
Colovati Mileny ES +8 more
doaj +1 more source
Difficulties in diagnosing Marfan syndrome using current FBN1 databases [PDF]
Genetics in Medicine, 2016 The diagnostic criteria of Marfan syndrome (MFS) highlight the importance of a FBN1 mutation test in diagnosing MFS. As genetic sequencing becomes better, cheaper, and more accessible, the expected increase in the number of genetic tests will become evident, resulting in numerous genetic variants that need to be evaluated for disease-causing effects ...
Groth, Kristian A +6 more
openaire +2 more sources
Cell Proliferation, EarlyView.Under physiological conditions, NAC activates the PI3K‐AKT‐COL6A1 axis to sustain redox balance and enhance osteogenesis. COL6A1 deficiency, however, compromises this axis, inducing oxidative stress and impairing NAC's osteogenic efficacy. ABSTRACT Alveolar bone injury represents a prevalent clinical challenge in dentistry, for which stem cell‐based ...
Zhaosong Meng +11 more
wiley +1 more source
Biology Open, 2013 Summary Although approximately 50% of Down Syndrome (DS) patients have heart abnormalities, they exhibit an overprotection against cardiac abnormalities related with the connective tissue, for example a lower risk of coronary artery disease.
Mireia Vilardell +2 more
doaj +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
A Practical Guide to Chromosome Microarray Interpretation for Paediatricians
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson +10 more
wiley +1 more source
Cancer Risk in Marfan Syndrome: A Swedish Population‐Based Cohort Study
International Journal of Cancer, Volume 159, Issue 7, Page 1707-1714, 1 October 2026.The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Ida Nordgren +8 more
wiley +1 more source
Equine Veterinary Journal, Volume 58, Issue 5, Page 1413-1444, September 2026.Abstract Background The molecular mechanisms underlying adaptation to physical exertion and racing stress in horses remain incompletely understood. Peripheral blood transcriptomics offers a minimally invasive method to monitor systemic responses to exercise and identify biomarkers of adaptation or overload. Objectives To evaluate transcriptomic changes
Izabela Dąbrowska +4 more
wiley +1 more source