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Variants that inactivate splice sites have negative final R i values with only rare exceptions, indicating that splice site recognition is essentially abolished in these cases.
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Some known LoF genes, most notably BRCA1 and BRCA2, carry germline variants that increase the susceptibility to develop a tumor because only one hit is required to inactivate their function.
HPVs make proteins that inactivate cellular tumor suppressor proteins.
Involvement of the AR in breast tumourigenesis is suggested by the existence of inactivating germline mutations in the hormone-binding domain in male breast cancer patients [ 3, 4], and by splice variants that disrupt the transactivation domain in female breast tumours and tumour cell lines [ 5].
Try making variants that involve vehicles.
Uridine diphosphate glucuronosyltranferase (UGT) is an enzyme that inactivates the toxic metabolite of irinotecan, SN-38 and several genetic variants in UGT1A1, UGT1A6 and UGT1A7 associate with the decreased enzymatic activity of UGT1A isoforms, which causes irinotecan to become more toxic (Innocenti et al, 2004; Han et al, 2006; Cecchin et al, 2009).
A 'gene knockout' or 'knockout' is a mutation that inactivates a gene function.
This enzyme is a glycosidase that inactivates ribosomes.
Cln3-Cdc28 also inactivates Whi5, the transcription suppressor that inactivates SBF specifically by direct binding until G1 [25], [25].
Germline mutations that inactivate BRCA2 promote early-onset cancer with chromosome instability.
Mutations that inactivate the NPC proteins cause endosomal/lysosomal accumulation of cholesterol, progressive neurodegeneration, and robust glial cell activation [50].
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