-
3081
A copy number variation in human NCF1 and its pseudogenes
Published 2010-02-01“…These two pseudogenes have a GT deletion in exon 2, resulting in a frameshift and an early stop codon. Here, we report a copy number variation (CNV) of the NCF1 pseudogenes and their alternative spliced expressions.…”
Get full text
Article -
3082
Comparative Analyses of Plastomes of Four <i>Anubias</i> (Araceae) Taxa, Tropical Aquatic Plants Endemic to Africa
Published 2022-11-01“…The comparative analysis of genome structure, repeat sequences, codon usage and RNA editing sites revealed high similarities among the <i>Anubias</i> plastomes, indicating the conservation of plastomes of <i>Anubias</i>. …”
Get full text
Article -
3083
Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the <i>KIAA0825</i> Gene in a Fetus with Postaxial Polydactyly Type A
Published 2022-07-01“….-1-2A>T variant led to the loss of the initiation codon, and the c.2247-2A>G variant mainly resulted in exon 13 skipping. …”
Get full text
Article -
3084
Mutation analysis of the fibroblast growth factor receptor 3 gene in fetuses with thanatophoric dysplasia, type I
Published 2020-02-01“…Results: By FGFR3 gene sequencing, the authors identified six cases with missense mutations and two cases with stop codon mutations in the FGFR3 gene. Among the 6 FGFR3 missense mutations, four cases revealed a heterozygous p.Arg248Cys mutation, one case had a heterozygous p. …”
Get full text
Article -
3085
Potential Application of Recombinant Snake Prothrombin Activator Ecarin in Blood Diagnostics
Published 2022-11-01“…We describe here the purification and cloning of a codon-optimized form of the snake prothrombin activator ecarin from the saw scaled viper (<i>Echis carinatus</i>) expressed in mammalian cells. …”
Get full text
Article -
3086
A genetic toolkit for tagging intronic MiMIC containing genes
Published 2015-06-01“…Previously, we described a large collection of Minos-Mediated Integration Cassettes (MiMICs) that contain two phiC31 recombinase target sites and allow the generation of a new exon that encodes a protein tag when the MiMIC is inserted in a codon intron (Nagarkar-Jaiswal et al., 2015). These modified genes permit numerous applications including assessment of protein expression pattern, identification of protein interaction partners by immunoprecipitation followed by mass spec, and reversible removal of the tagged protein in any tissue. …”
Get full text
Article -
3087
Complete Mitochondrial Genome, Genetic Diversity and Phylogenetic Analysis of Pingpu Yellow Chicken (<i>Gallus gallus</i>)
Published 2022-11-01“…Additionally, the total length of the 13 PCGs is 11,394 bp, accounting for 67.88% of the complete mitogenome sequence, and the PCGs region has 3798 codons. A majority of the PCGs have ATG as the start codon. …”
Get full text
Article -
3088
Analysis of the dihydrofolate reductase-thymidylate synthase gene sequences in <it>Plasmodium vivax </it>field isolates that failed chloroquine treatment
Published 2010-11-01“…Two of 11 isolates have the Ser to Asn mutation in codon 117, which is the major determinant of pyrimethamine resistance in <it>P. vivax</it>. …”
Get full text
Article -
3089
Pyloric gland adenoma of the cystic duct with malignant transformation: report of a case with a review of the literature
Published 2012-12-01“…We detected chromosomal gains at 7p, 7q11q21, 15q, 16p, 20, losses at 6p23pter, 6q, 18, and amplifications at 1q and 6p21p22 in the pyloric gland adenoma by comparative genomic hybridization. A KRAS codon 12 mutation (c.35G>T; p.G12V) was detected in the pyloric gland adenoma and in the adjacent dysplasia by sequencing analysis. …”
Get full text
Article -
3090
Bioinformatic analysis of beta carbonic anhydrase sequences from protozoans and metazoans
Published 2014-01-01“…A phylogenetic tree was constructed based on codon-aligned DNA sequences. Subcellular localization prediction for each identified invertebrate beta carbonic anhydrase was performed using the TargetP webserver. …”
Get full text
Article -
3091
Loss of SELENOF Induces the Transformed Phenotype in Human Immortalized Prostate Epithelial Cells
Published 2021-11-01“…SELENOF is a member of the class of selenoproteins in which the amino acid selenocysteine is co-translationally inserted into the elongating peptide in response to an in-frame UGA codon located in the 3′-untranslated (3′-UTR) region of the SELENOF mRNA. …”
Get full text
Article -
3092
Dataset on estimate of intra-specific genetic variability of African yam bean (Sphenostylis stenocarpa (Hochst. ex A. Rich.) Harms.) based on rbcL gene marker
Published 2023-04-01“…The data identified 13 variables (segregating sites) as SNPs, 5 haplotypes, and codon usage of the species that can be explored further to advance the genetic utilization of AYB.…”
Get full text
Article -
3093
Porous borders at the wild-crop interface promote weed adaptation in Southeast Asia
Published 2024-02-01Get full text
Article -
3094
Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family
Published 2023-09-01“…This variant resulted in frameshift and a premature stop codon after 8 aberrant amino acids. This variant is a novel pathogenic mutation, as determined by pedigree analysis, which has not been reported in any database or literature.…”
Get full text
Article -
3095
Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome
Published 2020-03-01“…Methods We report a novel TIMM8A variant in a patient with DDON syndrome that alters the initiation codon and employed functional analyses to determine the significance of the variant and its impact on mitochondrial morphology. …”
Get full text
Article -
3096
Lack of association of HFE gene polymorphism with high body iron status in Pakistani patients with type 2 diabetes mellitus
Published 2020-11-01“…Single base substitution of G nucleotide instead of C at the codon position 187 in the HFE gene exon 2 was discovered in one subject with DM. …”
Get full text
Article -
3097
Novel Deletion in Exon 7 of Betaine Aldehyde Dehydrogenase 2 (BADH2)
Published 2023-03-01“…The deletion of 13 bases instead of 8 bases in exon 7 of BADH2 caused a premature stop codon, which down-regulated the expression of the BADH2 transcript while associated with up-regulation of OsP5CS and the high amount of 2-acetyl-1-pyrroline. …”
Get full text
Article -
3098
Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay
Published 2022-09-01“…We further designed and assessed the impact of four single codon deletions in the tBRCT linker region and six nonsense variants at the C-terminus end of BRCA1. …”
Get full text
Article -
3099
An intranasal recombinant NDV-BRSV Fopt vaccine is safe and reduces lesion severity in a colostrum-deprived calf model of RSV infection
Published 2022-12-01“…Thus, we examined whether a similar vaccine would protect neonatal calves from BRSV infection. Codon-optimized rNDV vaccine (rNDV-BRSV Fopt) was constructed and administered to colostrum-deprived calves. …”
Get full text
Article -
3100
Major histocompatibility complex complement (MHC) Bf alleles show trans species evolution between man and chimpanzee
Published 2023-10-01“…In the present paper, it is obtained a new Bf chimpanzee allele, provisionaly named Patr-Bf*A:01,that differs from other Bf alleles by having CTG at eleventh codon of exon 2 in order to start the newly suggested methodology and explain functional and evolutionary MHC obscure aspects. …”
Get full text
Article