Publications by authors named "A Coudert"
Dilated cardiomyopathy (DCM) is a rare disease in children and a leading cause of heart failure. There are numerous causes of DCM including genetic causes leading to isolated or syndromic presentations, with a wide variety of implicated genes. Among them, PPP1R13L is associated with a recessive syndrome leading to cardiac anomalies with skin, teeth, and hair abnormalities.
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- Chronic kidney disease (CKD) leads to increased vascular calcification, and low levels of inorganic pyrophosphate, a natural inhibitor of calcification, have been found in hemodialysis patients.
- A mouse model was created to study CKD-related vascular calcification and the effects of oral pyrophosphate supplementation.
- The study found that oral pyrophosphate given for 6 months reduced vascular calcification in CKD-affected mice, suggesting it could be a potential preventive treatment for CKD patients.
Sjögren syndrome (SS) is an autoimmune disease characterized by chronic inflammatory infiltrates in the salivary and lacrimal glands. Mucosal-associated invariant T (MAIT) cells are a subset of innate-like T-cells, predominantly found in mucosal tissues with crucial role in epithelial homeostasis. Thus, MAIT cells may be implicated in mucosal alterations of SS patients.
View Article and Find Full Text PDF3D Transcranial ultrasound localization microscopy reveals major arteries in the sheep brain.
IEEE Trans Ultrason Ferroelectr Freq Control
July 2024
Cerebral circulation ensures the proper functioning of the entire human body, and its interruption, i.e. stroke, leads to irreversible damage.
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- KMT2C and KMT2D are important enzymes that modify genes, with KMT2C haploinsufficiency recently linked to Kleefstra syndrome 2, a neurodevelopmental disorder (NDD) with unknown clinical details.
- A study involving 98 individuals found that most pathogenic variants in KMT2C span nearly all its exons, making variant interpretation difficult; the study also established a KMT2C DNA methylation signature for better classification of the disorder.
- Key features of KMT2C-related NDD include developmental delays, intellectual disabilities, and distinct facial characteristics, setting it apart from similar conditions like Kleefstra and Kabuki syndromes, indicating the need for its renaming and