Endometrial epithelial cells with high ALDH activity control uterine development and regeneration.
Adult stem cells are thought to drive the regenerative potential of the endometrium and contribute to the pathogenesis of endometriosis, however, their identity and defining features remain to be characterized. …
A heterogeneous graph neural network for candidate gene prediction in endometriosis.
Precision medicine applications depend on elucidating the underlying molecular mechanisms of disease. However, many disorders, such as endometriosis, remain poorly characterised genetically due to data scarcity, positive-unlabelled (PU) imbalance, and …
The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency.
The LYSET gene encodes the LYSET transmembrane protein, which regulates lysosome biogenesis by activating the mannose-6-phosphate (M6P) pathway. This is an autosomal recessive, ultrarare, and severe progressive skeletal dysplasia with …