专题:Connective tissue disorders research

This cluster of papers explores genetic and molecular aspects of various connective tissue disorders, including Marfan syndrome, Ehlers-Danlos syndrome, and Osteogenesis Imperfecta. It delves into mutations in genes encoding proteins like TGF-ß receptor, elastin, fibrillin-1, and collagen, as well as their implications in aortic aneurysms and skeletal abnormalities.
最新文献
Metabolic drivers of MASLD and MASH: from hormonal imbalance to fibrosis

article Full Text OpenAlex

Spatial and Single-Cell Mapping Reveals Valvular Interstitial Cell and Macrophage Sex Differences in Calcific Aortic Valve Disease

article Full Text OpenAlex

Expansins and expansin-like proteins revisited: Untangling the ‘Gordian’ knots

article Full Text OpenAlex

Unexplained multiorgan fat embolism syndrome in a 10-year-old child with LAMA2-related congenital muscular dystrophy

article Full Text OpenAlex

Teriparatide Plus Zoledronic Acid for Osteogenesis Imperfecta

article Full Text OpenAlex

Ten-year outcomes of valve-replacing versus valve-sparing aortic root replacement in patients with Marfan syndrome: An observational multicenter study

article Full Text OpenAlex

Integrated Single‐Cell and Spatial Analysis Reveals a Metabolic‐Immune Axis Driving Aortic Dissection

article Full Text OpenAlex

Gastrointestinal Manifestations of Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: A Mentored Review

article Full Text OpenAlex

From Manual to Macro: A Reproducible Fiji Workflow for Semi-automated Collagen Fibril Diameter Quantification in Transmission Electron Microscopy

article Full Text OpenAlex

Late adverse cardiovascular events after aortic valve–sparing operations in patients with Marfan syndrome

article Full Text OpenAlex

近5年高被引文献