The variant with allele frequencies > 0.01 were excluded. We focused on loss-of-function variants including stop gain/loss, frameshift insertion/deletion, splicing within two base pairs, and potentially deleterious missense variants that were predicted to be deleterious by two of the three tools...
Individuals Homozygous for the V Allele of FcγRIIIa May Have Increased Risk of HIV Infection Following Vaccination with Recombinant gp120D. ForthalIdsa
(A and B) Intracellular calcium response to increasing concentrations of (A) UDP or (B) 7α,25-OHC in WT and FUS P525L Hom MIGs. (C and D) Intracellular calcium flux in response to (C) UDP or (D) 7α,25-OHC in MIGs of various genotypes. Respectively for the chemoreceptors P2RY...
In mice homozygous for a nonsense Pde6b(rd1) allele, absence of PDE6 activity is associated with retinal disease similar to humans. Although studied for 80 years, the rapid degeneration Pde6b(rd1) phenotype has limited analyses and therapeutic modeling. Moreover, this model does not represent ...
Filtering of variants for pathogenicity was performed with an in-house tool (MS, unpublished). Calls with an allele frequency ≥ 1% in the 1000 Genomes, ExAC or Kaviar databases were excluded. In addition, frequently observed variants in our in-house database (≥ 20x) were removed. All ...
Both variants are heterozygous in eight FH2-carriers and homozygous for the reference allele in all other sequenced Fleckvieh animals. Moreover, both variants are homozygous for the reference allele in 1007 non-Fleckvieh animals that have been sequenced for the 1000 bull genomes project [2]. ...
(N: Normal, +: Mutant allele, −: Normal allele) (b) DNA sequencing image for KCNQ1 mutation (c) DNA sequencing image for RYR2 variant (d) DNA sequencing image for NKX2–5 variant (e) Predicted secondary structures and 3D modelling of wild type and mutant RYR2 protein (left) and ...
After filtering the WES data for 3 members in each family (Fig. 1), a novel homozygous mutation c.122G> A (p.R41Q) in MPV17 was identified in both families (Fig. 1b). A mutant allele was putatively inherited from each parent in both families. The mutation was not observed in the...
The allele frequency of the variant European Journal of Human Genetics KCNJ10 variant causes SeSAME/EAST in Malinois dogs M Van Poucke et al 225 in the Belgian Malinois population is estimated at 2.9%. Breeders are advised to screen for the variant in order to breed with variant-free animals...
The present invention claims an invertebrate animal that has been modified to express a set of genes, the set comprising the gene coding for a modified version of the gamma subunit of AMP-activated protein kinase (AMPKg). According to the invention, the animal displays an identifiable phenotype...