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Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene in skeletal cell lineages.

F1000Res. 2019; 
SedaMarian,PeskettEmma,DemetriouCharalambos,BryantDale,MooreGudrun E,StanierPhilip,JenkinsD
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PCR Cloning and Subcloning … was performed. The 3' entry clone p3E mCherry IRES was synthesised by Genscript (full sequence available from (Seda et al., 2019)). Correct cloning was confirmed by Sanger sequencing using primers listed in Table 2. To … Get A Quote

摘要

Lenz-Majewski syndrome (LMS) is characterized by osteosclerosis and hyperostosis of skull, vertebrae and tubular bones as well as craniofacial, dental, cutaneous, and digit abnormalities. We previously found that LMS is caused by dominant missense mutations in the   gene, which encodes phosphatidylserine synthase 1 (PSS1), an enzyme that catalyses the conversion of phosphatidylcholine to phosphatidylserine. The mutations causing LMS result in a gain-of-function, leading to increased enzyme activity and blocking end-product inhibition of PSS1. Here, we have used transpose-mediated transgenesis to attempt to stably express wild-type and mutant forms of human ubiquitously or specifically in ... More

关键词

Lenz-Majewski syndrome,Tol2