We classified the remaining variants according to the American College of Medical Genetics guidelines (Richards et al., 2015). Results We identified 161 patients (114 probands and 47 relatives) with sequence variants in the PSTPIP1 coding region (See datasets, Table S1); 64 (40%) were ...
It is unlikely that many individuals with SH3 variants in our cohort also have full-blown PAPA syndrome, as PAPA syndrome is an orphan disease with few patients identified worldwide. Also of interest, there is a report of an individual with PASH who had a LoF variant in NCSTN.63 These ...
4.2. RNA Interference For the RNAi of ppk-1, we used the full coding sequence of 1836 bp (F55A12.3) from C. elegans cDNA. The primers used were as follows: forward 5 -CCCGGGATGGCTTCTCGGTCCAC-3 and reverse 5 -CCATGGTCAAGCGACAGGTGTGT-3 . The sequence was cloned to a L4440 feeding...
Of note, PTPIP51 includes an N-terminal transmembrane domain (TMD), when expressed in its full form. The TMD is responsible for the translocation of PTPIP51 towards the mitochondrion. Lv and coworkers showed, that the overexpression of PTPIP51 leads to an accumulation at the mitochondrion ...
variants and protein isoforms are processed differently in the nucleus and cytoplasm, based on their 3’ untranslated regions and coding sequences, which lead to different biological functions. The data presented here document the presence of exon 15 over-expression in some TNBCs, but we are ...