IndraLab
Statements
sparser
"Moreover, they also report that a loss of PHF6 results in increased genomic instability at rDNA genes and a cell cycle delay at G2/M. While this was the first indication of a nucleolar function for PHF6, it has also been reported to interact with PRPF8 and SNRNP200, both constituents of the U4/U6-U5 tri-snRNP pre-mRNA splicing ribonucleoprotein complex [ xref ]."
reach
"The conservative missense variant p.PRPF8-Arg2310Lys that is not altering the global charge of the C-terminal tail, and variants located at the basis of the C-terminal tail show milder clinical phenotypes, in accordance with functional data on PRPF8 and SNRNP200 interactions in yeast."
reach
"Although it has been demonstrated that the PRPF8 RNase H domain inhibits SNRNP200 activity and GTP bound EFTUD2 and that the C-terminus of PRPF8 induces the activation of SNRNP200 XREF_BIBR - XREF_BIBR, the detailed molecular mechanisms of the activation of SNRNP200 remains to be determined."
sparser
"Moreover, they also report that a loss of PHF6 results in increased genomic instability at rDNA genes and a cell cycle delay at G2/M. While this was the first indication of a nucleolar function for PHF6, it has also been reported to interact with PRPF8 and SNRNP200, both constituents of the U4/U6-U5 tri-snRNP pre-mRNA splicing ribonucleoprotein complex [ xref ]."
reach
"The conservative missense variant p.PRPF8-Arg2310Lys that is not altering the global charge of the C-terminal tail, and variants located at the basis of the C-terminal tail show milder clinical phenotypes, in accordance with functional data on PRPF8 and SNRNP200 interactions in yeast."
sparser
"Among the genes involved in mRNA splicing, mutations in PRPC8 (human homolog of yeast pre-mRNA splicing factor C8), PRP31 (human homolog of yeast pre-mRNA splicing factor 31), HPRP3 (human homolog of yeast pre-mRNA splicing factor 3), PAP-1 (PIM-1 kinase), TOPORS (topoisomerase-I-binding arginine/serine-rich protein) and SNRNP200 (small nuclear ribonucleoprotein, 200 kDa) are associated with adRP [ xref - xref ], although the mechanisms behind the process remain unclear."
DDX17 affects DDX23, DDX5, DHX9, EFTUD2, ELAVL1, FBL, H1-10, H1-2, HNRNPA1, HNRNPA2B1, HNRNPA3, HNRNPC, HNRNPK, HNRNPL, HNRNPR, HNRNPU, MKI67, NAT10, NCL, NOLC1, NONO, NOP2, NPM1, PARP1, PIAS1, PRKDC, PRPF8, SF3B1, SF3B3, SFPQ, SNRNP200, SNRPA1, SRSF1, TCOF1, TOP1, and TOP2A
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