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In this study, we describe new patients suffering from INPP5K mutations and hereby expand the mutational and clinical spectrum of the underlying disease. Pathogenicity of a new INPP5K missense mutation has been functionally confirmed. In addition, we systematically addressed the need to identify com...
ORGANISM(S): Homo sapiens (Human) 
2021-04-06 | PXD009297 | Pride
In this study, we describe new patients suffering from INPP5K mutations and hereby expand the mutational and clinical spectrum of the underlying disease. Pathogenicity of a new INPP5K missense mutation has been functionally confirmed. In addition, we systematically addressed the need to identify com...
ORGANISM(S): Homo sapiens (Human) 
2021-04-06 | PXD009272 | Pride
mRNA expression after Ezh2 knock down was analyzed to identify genes regulated by Ezh2. Human umbilical vein endothelial cells (HUVEC) were transfected with 25 nmol/L of control small interfering RNA (siRNA) (Silencer Select Negative Control Ambion, Austin, TX) or siRNA directed against Ezh2 (s4918;...
ORGANISM(S): Homo sapiens 
Myelin is a natural and dynamic multilamellar membrane structure that continues to be of significant biological and neurological interest, especially with respect to its biosynthesis and assembly during its normal formation and maintenance, and pathological breakdown. To explore the usefulness of ne...
2024-09-27 | MTBLS4717 | MetaboLights
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