Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans
S Yamamoto, O Kanca, MF Wangler… - Nature Reviews …, 2024 - nature.com
Next-generation sequencing technology has rapidly accelerated the discovery of genetic
variants of interest in individuals with rare diseases. However, showing that these variants …
variants of interest in individuals with rare diseases. However, showing that these variants …
Genetics of thoracic and abdominal aortic diseases: aneurysms, dissections, and ruptures
Dissections or ruptures of aortic aneurysms remain a leading cause of death in the
developed world, with the majority of deaths being preventable if individuals at risk are …
developed world, with the majority of deaths being preventable if individuals at risk are …
Cellular mechanisms of aortic aneurysm formation
RA Quintana, WR Taylor - Circulation Research, 2019 - Am Heart Assoc
Aortic aneurysms are a common vascular disease in Western populations that can involve
virtually any portion of the aorta. Abdominal aortic aneurysms are much more common than …
virtually any portion of the aorta. Abdominal aortic aneurysms are much more common than …
Single-cell transcriptomic profiling of vascular smooth muscle cell phenotype modulation in Marfan syndrome aortic aneurysm
Objective: To delineate temporal and spatial dynamics of vascular smooth muscle cell
(SMC) transcriptomic changes during aortic aneurysm development in Marfan syndrome …
(SMC) transcriptomic changes during aortic aneurysm development in Marfan syndrome …
Transforming growth factor-β in stem cells and tissue homeostasis
Abstract TGF-β 1–3 are unique multi-functional growth factors that are only expressed in
mammals, and mainly secreted and stored as a latent complex in the extracellular matrix …
mammals, and mainly secreted and stored as a latent complex in the extracellular matrix …
Insulin resistance and the polycystic ovary syndrome revisited: an update on mechanisms and implications
E Diamanti-Kandarakis, A Dunaif - Endocrine reviews, 2012 - academic.oup.com
Polycystic ovary syndrome (PCOS) is now recognized as an important metabolic as well as
reproductive disorder conferring substantially increased risk for type 2 diabetes. Affected …
reproductive disorder conferring substantially increased risk for type 2 diabetes. Affected …
Extracellular matrix, regional heterogeneity of the aorta, and aortic aneurysm
Aortic aneurysm is an asymptomatic disease with dire outcomes if undiagnosed. Aortic
aneurysm rupture is a significant cause of death worldwide. To date, surgical repair or …
aneurysm rupture is a significant cause of death worldwide. To date, surgical repair or …
Emerging role of precision medicine in cardiovascular disease
JA Leopold, J Loscalzo - Circulation research, 2018 - Am Heart Assoc
Precision medicine is an integrative approach to cardiovascular disease prevention and
treatment that considers an individual's genetics, lifestyle, and exposures as determinants of …
treatment that considers an individual's genetics, lifestyle, and exposures as determinants of …
[HTML][HTML] Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome
JAN Meester, A Verstraeten, D Schepers… - Annals of …, 2017 - ncbi.nlm.nih.gov
Many different heritable connective tissue disorders (HCTD) have been described over the
past decades. These syndromes often affect the connective tissue of various organ systems …
past decades. These syndromes often affect the connective tissue of various organ systems …
[HTML][HTML] The Society for Vascular Surgery practice guidelines on the care of patients with an abdominal aortic aneurysm
Background Decision-making related to the care of patients with an abdominal aortic
aneurysm (AAA) is complex. Aneurysms present with varying risks of rupture, and patient …
aneurysm (AAA) is complex. Aneurysms present with varying risks of rupture, and patient …