A copy number variation in human NCF1 and its pseudogenes by Chambers Isfahan, Wang Qingwei, Brunson Tiffany, Song Qing

“…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.…”
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Comparative Analyses of Plastomes of Four <i>Anubias</i> (Araceae) Taxa, Tropical Aquatic Plants Endemic to Africa by Li Li, Changkun Liu, Kunpeng Hou, Wenzhe Liu

“…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>. …”
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Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the <i>KIAA0825</i> Gene in a Fetus with Postaxial Polydactyly Type A by Yanyi Yao, Shan Deng, Feng Zhu

“….-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. …”
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Mutation analysis of the fibroblast growth factor receptor 3 gene in fetuses with thanatophoric dysplasia, type I by Q.C. Wu, W.B. Wang, L. Sun, Y.S. Xu, X.J. Xie, X.M. Ma, Z.Y. Su

“…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. …”
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Potential Application of Recombinant Snake Prothrombin Activator Ecarin in Blood Diagnostics by Kong-Nan Zhao, Paul Masci, Goce Dimeski, Lambro Johnson, Michael Grant, John de Jersey, Martin F. Lavin

“…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. …”
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A genetic toolkit for tagging intronic MiMIC containing genes by Sonal Nagarkar-Jaiswal, Steven Z DeLuca, Pei-Tseng Lee, Wen-Wen Lin, Hongling Pan, Zhongyuan Zuo, Jiangxing Lv, Allan C Spradling, Hugo J Bellen

“…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. …”
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Complete Mitochondrial Genome, Genetic Diversity and Phylogenetic Analysis of Pingpu Yellow Chicken (<i>Gallus gallus</i>) by Sihua Jin, Jingjing Xia, Fumin Jia, Lijun Jiang, Xin Wang, Xuling Liu, Xing Liu, Zhaoyu Geng

“…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. …”
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Analysis of the dihydrofolate reductase-thymidylate synthase gene sequences in <it>Plasmodium vivax </it>field isolates that failed chloroquine treatment by Kim Hyuck, Sohn Youngjoo, Sattabongkot Jetsumon, Kim Jung-Yeon, Kim Mi-A, Choi Kyung-Mi, Choi Yien-Kyoung, Kim Hyung-Hwan, Lee Won-Ja, Lee Jong-Koo, Park Han-Sook, Lee Hyeong-Woo

“…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>. …”
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Pyloric gland adenoma of the cystic duct with malignant transformation: report of a case with a review of the literature by Schaefer Inga-Marie, Cameron Silke, Middel Peter, Homayounfar Kia, Schwörer Harald, Vieth Michael, Veits Lothar

“…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. …”
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Bioinformatic analysis of beta carbonic anhydrase sequences from protozoans and metazoans by Reza Zolfaghari Emameh, Harlan Barker, Martti E E Tolvanen, Csaba Ortutay, Seppo Parkkila

“…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. …”
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Loss of SELENOF Induces the Transformed Phenotype in Human Immortalized Prostate Epithelial Cells by Lenny K. Hong, Shrinidhi Kadkol, Maria Sverdlov, Irida Kastrati, Mostafa Elhodaky, Ryan Deaton, Karen S. Sfanos, Heidi Wang, Li Liu, Alan M. Diamond

“…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. …”
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Dataset on estimate of intra-specific genetic variability of African yam bean (Sphenostylis stenocarpa (Hochst. ex A. Rich.) Harms.) based on rbcL gene marker by Jacob Olagbenro Popoola, Davelyne Ifechukude Eruemulor, Omena Bernard Ojuederie, Abiodun Sunday Oyelakin

“…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.…”
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Porous borders at the wild-crop interface promote weed adaptation in Southeast Asia by Lin-Feng Li, Tonapha Pusadee, Marshall J. Wedger, Ya-Ling Li, Ming-Rui Li, Yee-Ling Lau, Soo-Joo Yap, Sansanee Jamjod, Benjavan Rerkasem, Yan Hao, Beng-Kah Song, Kenneth M. Olsen

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Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family by Chunlei Jin, Xiangdong Zhang, Qiang Lei, Penglong Chen, Hui Hu, Shuangshuang Shen, Jiao Liu, Shixuanbao Ye

“…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.…”
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Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome by Addison Neighbors, Tonya Moss, Lynda Holloway, Seok‐Ho Yu, Fran Annese, Steve Skinner, Russell Saneto, Richard Steet

“…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. …”
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Lack of association of HFE gene polymorphism with high body iron status in Pakistani patients with type 2 diabetes mellitus by Jibran Sualeh Muhammad, Najmul Islam, Naseema Mehboobali, Khalida Iqbal, Iqbal Azam, Mohammad Perwaiz Iqbal

“…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. …”
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Novel Deletion in Exon 7 of Betaine Aldehyde Dehydrogenase 2 (BADH2) by Van Quoc Giang, Huynh Ky, Nguyen Chau Thanh Tung, Nguyen Loc Hien, Nguyen van Manh, Nguyen Nhut Thanh, Vo Cong Thanh, Swee Keong Yeap

“…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. …”
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Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay by Thales C. Nepomuceno, Ana P. P. dos Santos, Vanessa C. Fernandes, Anna B. R. Elias, Thiago T. Gomes, Guilherme Suarez-Kurtz, Edwin S. Iversen, Fergus J. Couch, Alvaro N. A. Monteiro, Marcelo A. Carvalho

“…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. …”
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An intranasal recombinant NDV-BRSV Fopt vaccine is safe and reduces lesion severity in a colostrum-deprived calf model of RSV infection by Randy E. Sacco, Ignacio Mena, Mitchell V. Palmer, Russell K. Durbin, Adolfo García-Sastre, Joan E. Durbin

“…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. …”
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Major histocompatibility complex complement (MHC) Bf alleles show trans species evolution between man and chimpanzee by Antonio Arnaiz-Villena, Ignacio Juarez, Alejandro Sánchez-Orta, José Manuel Martín-Villa, Fabio Suarez-Trujillo

“…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. …”
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