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Therefore we speculated that non-nuclear Sun1 localization in spermatids could be due to expression of a distinct Sun1 splice variant that lacks sequences required for NE retention.
We generated cDNA transcripts of purified Treg cells and identified in addition to these two isoforms a splice variant that lacks exon 2 and also exon 7. The latter was previously described as FOXP3Δ2Δ7 [16].
The crystal structure of a MzT variant that lacks the membrane-binding fragment 1, reveals formed exosite I and active centre, while exosite II is covered by the kringle 2 domain of the intermediate form [57]. Therefore boophilin could dock to this form essentially as seen in the current crystal structure (see Figure 9A for a representation of the modelled MzT·boophilin complex).
In this report, we examine the biochemical and physical properties of four HsmtSSB proteins: the mature full-length protein (notwithstanding the mitochondrial presequence, HsmtSSBwt), a deletion variant lacking the first 9 residues in the N-terminus (HsmtSSBΔN), a deletion variant lacking the last 7 residues in the C-terminus (HsmtSSBΔC), and a variant that lacks both termini (HsmtSSBΔNΔC).
Here we provide evidence for a human podocin splice variant that lacks exon 5.
But, in the basal teleost P. buchholzi GR2 there is a splice variant that lacks this insert.
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However, in addition to the one from HCT116Clone2_XRR, we obtained one splice variant that lacked exon three and ended on exon four (GenBank accession no. AY163836) (Fig. 3A).
Because both variants are located in poorly conserved genomic regions (phastCons of 0.01), it is likely that they represent rare neutral variants that lack functional significance.
For most variants that lack clear evidence as pathogenic variants, it takes only 1 2 min to complete the review process using ClinLabGeneticist.
Even some types of splice variants that lack the telomerase catalytic domains exhibit the functions in a manner that does not depend on telomerase activity.
We also used two Sa19 adenosine (A) 7 variants that lack murine immune cell stimulatory capacity (Figs 1B and EV1C and D) [ 5, 7].
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