Florian Buerger, Daanya Salmanullah, Lorrin Liang, Victoria Gauntner, Kavita Krueger, Maggie Qi, Vineeta Sharma, Alexander Rubin, David Ball, Katharina Lemberg, Ken Saida, Lea Maria Merz, Sanja Sever, Biju Issac, Liang Sun, Sergio Guerrero-Castillo, Alexis C Gomez, Michelle T McNulty, Matthew G Sampson, Mohamed H Al-Hamed, Mohammed M Saleh, Mohamed Shalaby, Jameela Kari, James P Fawcett, Friedhelm Hildebrandt, Amar J Majmundar
In genetic disease, an accurate expression landscape of disease genes and faithful animal models will enable precise genetic diagnoses and therapeutic discoveries, respectively. We previously discovered that variants in NOS1AP , encoding nitric oxide synthase 1 (NOS1) adaptor protein, cause monogenic nephrotic syndrome (NS). Here, we determined that an intergenic splice product of N OS1AP / Nos1ap and neighboring C1orf226/Gm7694 , which precludes NOS1 binding, is the predominant isoform in mammalian kidney transcriptional and proteomic data...
March 21, 2024: medRxiv