(H, H′ ) Our CB and GSC quantification results indicate that the heterozygous dpp mutations have partial suppression on the germ cell differentiation defects caused by dshKD, and the suppression is not due to the changes in GSC numbers (50 germaria examined for each genotype).
In all, 11 out of 36 KRAS wild-type patients (30%) responded to cetuximab, whereas none of the 12 patients (0%) harbouring a KRAS mutation had a partial response (P=0.04).
Interestingly, one patient in our series (case 8) whose tumour lacked an exon 11 KIT mutation had a partial response to imatinib by CT and a significantly reduced tracer uptake on PET.
Consistent with previous observations (Reindle et al, 2006), deletion of the SAP domain resulted in loss of sumoylation at K164 in vivo, whereas the SAP* mutation had a partial effect.
They had partial success.
Two out of three patients who were wild type for BRAF, NRAS, and c-KIT mutations had confirmed partial responses, and one had a minor response.
Nine of the 19 patients with confirmed BRCA mutations had a partial response to olaparib, representing a 47% response rate in this population.
Exome sequencing identified a heterozygous missense mutation in KCNT1 (c.1283G > A; p.Arg428Gln) in a child with migrating partial seizures of infancy (MPSI); the same mutation had been previously reported in three other patients with MPSI.
Although class III mutations possess minimal to no CFTR-dependent transport, class IV defects represent abnormalities of chloride conductance and may have partial activity in vivo.
