Sequence alignments of WT- and MT-alleles for the in-frame deletion ofEGFRE19del. The solid-line boxes indicate the positions of the Ef- and Er-primer, The dotted-line boxes indicate the positions of the LST oligonucleotides. The gray-highlighted letters indicate the positions of the WTB oli...
Surprisingly, no phenotypic differences were seen between mutations causing deletion or truncation of PLS3 protein or missense or in frame insertion mutations resulting in mutated PLS3 protein, most likely because all types of mutations cause a loss of function of PLS3 [108, 128,129,130,131, ...
Escherichia coliBL21(DE3), and conducted the StvP2-catalyzed in vitro assay using the whole crude extract fromstvP2in-frame deletion mutant6as substrate. Strikingly, a new peak corresponding to1was detected by HPLC-DAD (high performance liquid chromatography-diode array detector) and confirmed by ...
Despite extensive clinical interest in EGFR β3-αC (exon 19) deletions, crystal structures of kinase-activating deletion mutations have been elusive. To assess the effect β3-αC deletions have on kinase structure and activation state, we determined the X-ray crystal structures of the BRAF kina...
Shatunov A, Olivé M, Odgerel Z, Stadelmann-Nessler C, Irlbacher K, van Landeghem F: In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. Eur J Hum Genet. 2009, 17: 656-663. 10.1038/ejhg.2008.226. Article CAS PubMed Google Sch...
Our data demonstrate four missense mutations and one in-frame deletion in MACF1, which encodes zinc-binding residues in the MT-binding GAR domain, in eight children with a rare and distinctive brain malformation consisting of variable but usually mild LIS with a posterior gradient more severe than...
Deletion of genes CC2906 and CC3255 in C. crescentus Single mutant strains for CC2906 (SG20) and CC3255 (SG19) were obtained by an in-frame deletion in the coding region of these genes. For that, two fragments flanking the regions to be deleted were amplified by PCR (a complete list...
Hence, we report a multiplex consanguineous family with the PEHO phenotype where affected individuals had a homozygous frame-shift deletion inCCDC88A(c.2313delT, p.Leu772*ter). Analysis of cDNA extracted from patient lymphocytes unexpectedly failed to show non-sense mediated decay, and we ...
Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma. Acta Neuropathol. 2019;137:851–4. Article CAS Google Scholar Wong GC, Li KK, Wang WW, Liu AP, Huang...
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum. Mol. Genet. 15, 1847–1857 (2006). Article CAS Google Scholar Drivas, T. G. & Bennett, J. CEP290 and the...