Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. by Nesbit, M, Bowl, MR, Harding, B, Ali, A, Ayala, A, Crowe, C, Dobbie, A, Hampson, G, Holdaway, I, Levine, M, McWilliams, R, Rigden, S, Sampson, J, Williams, A, Thakker, R

“…We have investigated seven HDR probands and their families for GATA3 abnormalities and have identified two nonsense mutations (Glu-228 --> Stop and Arg-367 --> Stop); two intragenic deletions that result in frameshifts from codons 201 and 355 with premature terminations at codons 205 and 370, respectively; one acceptor splice site mutation that leads to a frameshift from codon 351 and a premature termination at codon 367; and two missense mutations (Cys-318 --> Arg and Asn-320 --> Lys). …”

The cell cycle and DNA damage-dependent regulation of Cdt1 in schizosaccharomyces pombe by Shepherd, M

“…The mutational analysis also resulted in the characterisation of two in-frame AUG codons in the cdt1+ reading frame. The second in-frame AUG codon was shown to be the principal initiator codon and was required to maintain wildtype Cdt1 protein levels and cell viability.…”

Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series. by Webb, T, Poulter, M, Beck, J, Uphill, J, Adamson, G, Campbell, T, Linehan, J, Powell, C, Brandner, S, Pal, S, Siddique, D, Wadsworth, J, Joiner, S, Alner, K, Petersen, C, Hampson, S, Rhymes, C, Treacy, C, Storey, E, Geschwind, MD, Nemeth, A, Wroe, S, Collinge, J, Mead, S

“…All of the smaller P102L kindreds were linked to polymorphic human prion protein gene codon 129M and were not connected by genealogy or microsatellite haplotype background to the large kindred or each other. …”

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. by Lise, S, Clarkson, Y, Perkins, E, Kwasniewska, A, Sadighi Akha, E, Schnekenberg, R, Suminaite, D, Hope, J, Baker, I, Gregory, L, Green, A, Allan, C, Lamble, S, Jayawant, S, Quaghebeur, G, Cader, M, Hughes, S, Armstrong, R, Kanapin, A, Rimmer, A, Lunter, G, Mathieson, I, Cazier, J, Buck, D, Taylor, J, Bentley, D, McVean, G, Donnelly, P, Knight, S, Jackson, M, Ragoussis, J, Németh, A

“…Using targeted capture and next-generation sequencing, we identified a homozygous stop codon in SPTBN2 in a consanguineous family in which childhood developmental ataxia co-segregates with cognitive impairment. …”

Mitogenome of Gymnothorax minor and Phylogenetic Relationship with Its Congeners and Related Genera (Anguilliformes: Muraenidae) by Song, Sze Looi, Yong, Hoi Sen, Loh, Kar Hoe, Lim, Phaik Eem, Then, Amy Yee Hui, Eamsobhana, Praphathip

“…Excepting cox1 with GTG, the other 12 PCGs had ATG start codon. Seven of its PCGs had incomplete stop codon - five (nad2; cox1; cox2; nad3 and nad4) with T and two (atp6 and cox3) with TA. …”

Complete mitochondrial genome of Dacus conopsoides (Insecta: Tephritidae) with tRNA gene duplication and molecular phylogeny of Dacini tribe by Song, Sze Looi, Yong, Hoi Sen, Suana, I. Wayan, Lim, Phaik Eem, Eamsobhana, Praphathip

“…Seven PCGs had TAA stop codon, two had TAG and four had incomplete T stop codon. …”

The use of the amplification refractory mutation system (arms) in the detection of rare beta-thalassemia mutations in the Malays and Chinese in Malaysia by Chan, Yoke Fun, Tan, Kim Lim, Wong, Yean Ching, Wee, Yong Chui, Yap, Sook Fan, Tan, Mary Anne Jin Ai

“…The ARMS for the rare Chinese beta-mutations at position -29 (A-->G) and the ATG-->AGG base substitution at the initiator codon for translation in the beta-gene was developed. …”
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Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in <em>HPS3</em> and <em>HPS4</em> Genes by Qaiser Zaman, Sadeeda, Muhammad Anas, Gauhar Rehman, Qadeem Khan, Aiman Iftikhar, Mashal Ahmad, Muhammad Owais, Ilyas Ahmad, Osama Yousef Muthaffar, Angham Abdulrhman Abdulkareem, Fehmida Bibi, Musharraf Jelani, Muhammad Imran Naseer

“…<i>Conclusions:</i> The substitution c.2766T > G creates a premature protein termination at codon 922 in <i>HPS3</i>, replacing tyrosine amino acid with a stop codon (p.Tyr922Ter), while the deletion mutation c.1180_1184delGTTCC leads to a reading frameshift and a premature termination codon adding 23 abnormal amino acids to HSP4 protein (p:Val394Pro395fsTer23). …”
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Insights into the Mitochondrial Genetic Makeup and Miocene Colonization of Primitive Flatfishes (Pleuronectiformes: Psettodidae) in the East Atlantic and Indo-West Pacific Ocean by Shantanu Kundu, Flandrianto Sih Palimirmo, Hye-Eun Kang, Ah Ran Kim, Soo Rin Lee, Fantong Zealous Gietbong, Se Hyun Song, Hyun-Woo Kim

“…Most of the protein-coding genes commence with an ATG initiation codon, except for Cytochrome c oxidase I (COI), which initiates with a GTG codon. …”
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Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome by Lei Liang, Haotian Wu, Zeyu Cai, Jianrong Zhao

“…Specifically, it caused a shift in codon 1472 from encoding aspartate to encoding methionine. …”
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HCV Genetic Diversity Can Be Used to Infer Infection Recency and Time since Infection by Louisa A. Carlisle, Teja Turk, Karin J. Metzner, Herbert A. Mbunkah, Cyril Shah, Jürg Böni, Michael Huber, Dominique L. Braun, Jan Fehr, Luisa Salazar-Vizcaya, Andri Rauch, Sabine Yerly, Aude Nguyen, Matthias Cavassini, Marcel Stoeckle, Pietro Vernazza, Enos Bernasconi, Huldrych F. Günthard, Roger D. Kouyos

“…Measuring HCV diversity over third or all codon positions gave similar performances, and notable improvement over first or second codon positions. …”
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DNA Vaccine Co-Expressing Hemagglutinin and IFN-γ Provides Partial Protection to Ferrets against Lethal Challenge with Canine Distemper Virus by Jianjun Zhao, Yiyang Sun, Ping Sui, Hongjun Pan, Yijun Shi, Jie Chen, Hailing Zhang, Xiaolong Wang, Rongshan Tao, Mengjia Liu, Dongbo Sun, Jiasan Zheng

“…Apparently, ferret (<i>Mustela putorius furo</i>)-specific codon optimization increased the expression of CDV H and N proteins. …”
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tRNA modification reprogramming contributes to artemisinin resistance in Plasmodium falciparum by Small-Saunders, Jennifer L., Sinha, Ameya, Bloxham, Talia S., Hagenah, Laura M., Sun, Guangxin, Preiser, Peter Rainer, Dedon, Peter C., Fidock, David A.

“…Transfer RNA modification reprogramming and codon bias translation is a conserved epitranscriptomic translational control mechanism that allows cells to rapidly respond to stress. …”
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Metastatic thyroid cancer after thyroidectomy in patient with MEN2A syndrome: a case report by Ana Čala, Tina Dušek

“…MTC is usually the initial presenting feature of this complex and a specific RET codon mutation can help predict the disease and how it will behave.…”
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Two complete mitochondrial genomes of Paraleucogobio fishes (Cypriniformes: Gobionidae) by Xia Zhang, Cuizhang Fu

“…The two mitochondrial genomes showed similar gene arrangements, codon use, gene overlaps or gene intervals with the length of 16,596 bp and 16,598 bp. …”
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An immunoinformatics approach to epitope-based vaccine design against PspA in Streptococcus pneumoniae by Lincon Mazumder, Muhammad Shahab, Saidul Islam, Mahmuda Begum, Jonas Ivan Nobre Oliveira, Shamima Begum, Shahina Akter

“…Analysis of molecular dynamic simulation, C-immune simulation, codon adaptation, and in silico cloning validated that our designed vaccine is a suitable candidate against SPN. …”
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Comparative Mitogenomics of Jumping Spiders with First Complete Mitochondrial Genomes of Euophryini (Araneae: Salticidae) by Wenqiang Zhang, Long Lin, Yuhui Ding, Feng Zhang, Junxia Zhang

“…Tandem repeats of various copy numbers and lengths were discovered in three jumping spider species. The codon usage analyses showed that the evolution of codon usage bias in salticid mitogenomes was affected by both selection and mutational pressure, but selection may have played a more important role. …”
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Nitrate-Induced <i>MtCLE34</i> Gene Lacks the Ability to Reduce Symbiotic Nodule Number and Carries Nonsense Mutation in a Few Accessions of <i>Medicago truncatula</i> by Maria Lebedeva, Kristina Dvornikova, Lyudmila Lutova

“…However, this gene contains a premature stop codon in the reference <i>M. truncatula</i> genome of the A17 line, and therefore, it was suggested to be a pseudogene. …”
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Computational analysis of KRAS mutations: implications for different effects on the KRAS p.G12D and p.G13D mutations. by Chih-Chieh Chen, Tze-Kiong Er, Yen-Yi Liu, Jenn-Kang Hwang, Maria Jesus Barrio, Maximiliano Rodrigo, Enrique Garcia-Toro, Marta Herreros-Villanueva

“…The issue of whether patients diagnosed with metastatic colorectal cancer who harbor KRAS codon 13 mutations could benefit from the addition of anti-epidermal growth factor receptor therapy remains under debate. …”
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Multiple Mutations and Overexpression in the <i>CYP51A</i> and <i>B</i> Genes Lead to Decreased Sensitivity of <i>Venturia effusa</i> to Tebuconazole by Logan C. Moore, Timothy B. Brenneman, Sumyya Waliullah, Clive H. Bock, Md Emran Ali

“…In the <i>CYP51A</i> gene, mutation at codon 444 (G444D), and in the <i>CYP51B</i> gene, mutations at codon 357 (G357H) and 177 (I77T/I77L) were found in resistant isolates. …”
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