Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 3 of 3 for “"rare monogenic disease"”.
-
Role of chromatin condensates in tuning nuclear mechano-sensing in Kabuki Syndrome
… syndrome (KS) (Fasciani et al., 2020). KS is a rare monogenic disease caused by the haploinsufficiency in the KMT2D gene encoding for MLL4, a H3K4-specific methyltransferase important for the regulation of gene expression. By interrogating the effect of KMT2D haploinsufficiency in Mesenchymal …
-
Pre-Clinical Development Of Aav Mediated Gene Therapy For Familial Lecithin Cholesterol Acyltransferase Deficiency
… acyltransferase (LCAT) deficiency (FLD), is a rare monogenic disease, characterized by abnormal lipid profile, corneal opacities, anemia and renal disease which progresses to renal failure. There is currently no approved treatment for patients with this disease. FLD is a good candidate for AAV …
-
3D KIDNEY ORGANOIDS AS A PLATFORM FOR INVESTIGATING MONOGENIC DISEASES AND GENE THERAPY APPROACHES
… to generate kidney organoids as a 3D model of rare inherited kidney diseases. Human kidney organoids are an invaluable platform for studying renal pathophysiology, developing cell-based therapies, and testing novel therapeutic approaches. We generated and characterised kidney organoid models of …