20 research outputs found
A practical guide to using the World Federation for Medical Education (WFME) standards. WFME 1: mission and objectives
Julio C. TREBOLLÉ-BARRERA, Jehú y Joás. Texto y composición literaria de 2 Reyes 9-11, Edilva («Institución San Jerónimo», 17), Valencia 1984, 254 pp., 16 x 24. [RECENSIÓN]
Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147202/1/jgc40689.pd
A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression.
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder with a range of cardiovascular, skeletal, craniofacial and cutaneous manifestations. LDS type 4 is caused by mutations in TGFβ ligand 2 (TGFB2) and based on the family pedigrees described to date, appears to have a milder clinical phenotype, often presenting with isolated aortic disease. We sought to investigate its molecular basis in a new pedigree. We identified a missense variant p.(Arg320Cys) (NM_003238.3) in a highly evolutionary conserved region of TGFB2 in a new LDS type 4 pedigree with multiple cases of aortic aneurysms and dissections. There was striking upregulation of TGFB1 and TGFB2 expression on immunofluorescent staining, and western blotting of the aortic tissue from the index case confirming the functional importance of the variant. This case highlights the striking paradox of predicted loss-of-function mutations in TGFB2 causing enhanced TGFβ signaling in this emerging familial aortopathy.Raya Al Maskari has a PhD studentship funded by the Omani government.This is the author accepted manuscript. The final version is available from Nature Publishing Group via https://doi.org/10.1038/ejhg.2016.14
Does a transition in education equate to a transition in practice? Thai stakeholder’s perceptions of the introduction of the Doctor of Pharmacy programme
Erratum to: At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease
Measuring the International Criminal Court against Bingham's Ideal of the Rule of Law: Are Procedural Safeguards Sufficient?
Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches
International audienc