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[HTML][HTML] Marfan syndrome revisited: From genetics to clinical practice
Marfan syndrome is an autosomal dominant connective tissue disease with an estimated
incidence of 1 in 5000 individuals. In 90% of cases it is caused by mutations in the gene for …
incidence of 1 in 5000 individuals. In 90% of cases it is caused by mutations in the gene for …
[PDF][PDF] Cardiac complications in Marfan syndrome: a review
J Singh, A Wanjari - Cureus, 2022 - cureus.com
Marfan syndrome (MFS) is a rare inherited disorder of the connective tissue with an
autosomal dominant mode of inheritance which happens as a result of a mutation in the …
autosomal dominant mode of inheritance which happens as a result of a mutation in the …
[HTML][HTML] miR-632 induces DNAJB6 inhibition stimulating endothelial-to-mesenchymal transition and fibrosis in marfan syndrome aortopathy
S Terriaca, MG Scioli, C Pisano, G Ruvolo… - International Journal of …, 2023 - mdpi.com
Marfan syndrome (MFS) is a connective tissue disorder caused by FBN1 gene mutations
leading to TGF-β signaling hyperactivation, vascular wall weakness, and thoracic aortic …
leading to TGF-β signaling hyperactivation, vascular wall weakness, and thoracic aortic …
Marfan syndrome: A therapeutic challenge for long-term care
Marfan syndrome (MFS) is an autosomal dominant genetic disorder caused by mutations in
the fibrillin-1 gene. Acute aortic dissection is the leading cause of death in patients suffering …
the fibrillin-1 gene. Acute aortic dissection is the leading cause of death in patients suffering …
An overview of investigational and experimental drug treatment strategies for Marfan syndrome
Marfan syndrome (MFS) is a heritable connective tissue disorder caused by pathogenic
variants in the gene coding for the extracellular matrix protein fibrillin-1. While the disease …
variants in the gene coding for the extracellular matrix protein fibrillin-1. While the disease …
[HTML][HTML] Síndrome de Marfan revisitada–da genética à clínica
A síndrome de Marfan é uma doença autossómica dominante do tecido conjuntivo, com
uma incidência estimada de um em 5000 indivíduos. Em 90% dos casos resulta de …
uma incidência estimada de um em 5000 indivíduos. Em 90% dos casos resulta de …
Pleiotropic activation of endothelial function by angiotensin II receptor blockers is crucial to their protective anti-vascular remodeling effects
There are no therapeutics that directly enhance chronic endothelial nitric oxide (NO)
release, which is typically associated with vascular homeostasis. In contrast, angiotensin II …
release, which is typically associated with vascular homeostasis. In contrast, angiotensin II …
Vascular progenitor cell senescence in patients with Marfan syndrome
Vascular progenitor cells (VPCs) present in the adventitia of the vessel wall play a critical
role in the regulation of vascular repair following injury. This study aimed to assess the …
role in the regulation of vascular repair following injury. This study aimed to assess the …
Total arch replacement and frozen elephant trunk for type A aortic dissection after Bentall procedure in Marfan syndrome
Background We seek to report the long-term outcomes of the total arch replacement and
frozen elephant trunk (TAR+ FET) technique for type A aortic dissection (TAAD) following …
frozen elephant trunk (TAR+ FET) technique for type A aortic dissection (TAAD) following …
Aortopathy in congenital heart disease
TB Cotts, KB Salciccioli, SK Swanson… - Cardiology …, 2020 - cardiology.theclinics.com
Over the last few decades, an accumulating body of medical literature has documented the
presence of aortic dilation in patients with congenital heart defects (CHD) and explored the …
presence of aortic dilation in patients with congenital heart defects (CHD) and explored the …