Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom by Julia Zöllner, Sarah Finer, Kenneth J. Linton, Genes and Health Research Team, David A. van Heel, Catherine Williamson, Peter H. Dixon

“…Fourteen novel LoF variants were identified: 7 frameshift, 5 introduction of premature stop codon and 2 splice acceptor variants. The rare variant burden was significantly increased in ABCB11. …”
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Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence? by Jussi‐Pekka Tolonen, Anne Hekkala, Outi Kuismin, Hannu Tuominen, Maria Suo‐Palosaari, Olli Tynninen, Riitta Niinimäki

“…Results Here, we report on a patient with a pathogenic germline PTEN variant resulting in an early stop codon p.(Glu7Argfs*4) (ClinVar ID: 480383). The patient developed macrocephaly and MBSHH, but reached remission with current treatment protocols. …”
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Advances in Understanding the Mechanism of Cap-Independent Cucurbit Aphid-Borne Yellows Virus Protein Synthesis by Verónica Truniger, Giuliano Sting Pechar, Miguel A. Aranda

“…The proposed general mechanism of 3′-CITEs includes their binding to eukaryotic translation initiation factors (eIFs) that reach the 5′-end and AUG start codon through 5′-3′-UTR-interactions. It was previously shown that cucurbit aphid-borne yellows virus (CABYV) has a 3′-CITE, which varies in sequence and structure depending on the phylogenetic group to which the isolate belongs, possibly as a result of adaptation to the different geographical regions. …”
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Isolation and Expression Analysis of the Ethylene Receptor Gene MiETR1b in Mango (Mangifera indica) by Yunhe Li, Zhi Zhang, Qingsong Wu

“…The genomic DNA sequence of MiETR1b was 4 116 bp in length, having a 3 305 bp sequence from the start to terminator codon, containing six exons and five introns. The deduced amino acids possessed conserved domains of the GAF and HATPase_c superfamilies. …”
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Immunoinformatics Approach to Design a Chimeric CD70-Peptide Vaccine against Renal Cell Carcinoma by Haideh Namdari, Farhad Rezaei, Fatemeh Heidarnejad, Mohammad Yaghoubzad-Maleki, Maryam Karamigolbaghi

“…Molecular docking and dynamics analyses predicted stable interactions between CD70-CPP-TNF and the TNF receptor, indicating potential efficacy. In silico codon optimization and cloning of the vaccine nucleic acid sequence were accomplished using the pET28a plasmid. …”
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Immunomodulatory properties of Leishmania tarentolae extracellular vesicles containing the Spike protein of SARS-CoV-2 by Ana Catalina Medina, Ana Catalina Medina, Hamlet Acevedo Ospina, Hamlet Acevedo Ospina, Albert Descoteaux, Albert Descoteaux

“…As a proof of concept, we expressed in L. tarentolae a codon-optimized SARS-CoV-2 Spike protein fused to the L. mexicana secreted acid phosphatase signal peptide in the N-terminal and to a 6×-His stretch in the C-terminal. …”
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Isoniazid resistance profile in rifampicin resistant Mycobacterium tuberculosis by Naomee Shareef, Ahmed Abu Saleh, Abu Naser Ibne Sattar, Shaheda Anwar

“…All samples were tested for mutation in katG (codon 315) and inhA promoter (-5, -8, -15 and -16) genes to detect INH resistance by real-time PCR. …”
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Molecular diversity analysis in hexaploid wheat (Triticum aestivum L.) and two Aegilops species (Aegilops crassa and Aegilops cylindrica) using CBDP and SCoT markers by Ghazal Ghobadi, Alireza Etminan, Ali Mehras Mehrabi, Lia Shooshtari

“…The main objective of the current study was to estimate molecular variability within the set of 91 samples from Triticum aestivum, Aegilops cylindrica, and Aegilops crassa species using 30 CAAT box–derived polymorphism (CBDP) and start codon targeted (SCoT) markers. Results Fifteen SCoT and Fifteen CBDP primers produced 262 and 298 fragments which all of them were polymorphic, respectively. …”
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Genetic diversity and bioinformatic analysis in the L1 gene of HPV genotypes 31, 33, and 58 circulating in women with normal cervical cytology by Mina Mobini Kesheh, Sara Shavandi, Jalil Azami, Maryam Esghaei, Hossein Keyvani

“…Twenty nine nucleotide changes corresponded to nonsynonymous substitutions in which seventeen mutations were located in L1 loops. Only one codon position in HPV-58 sequences was found as the positive selection. …”
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Family’s History Based on the <i>CDH1</i> Germline Variant (c.360delG) and a Suspected Hereditary Gastric Cancer Form by Laura Caggiari, Mara Fornasarig, Mariangela De Zorzi, Renato Cannizzaro, Agostino Steffan, Valli De Re

“…This frameshift deletion generates a premature stop codon at the amino acid 214, which leads to a truncated E-cadherin protein detecting it as a deleterious variant. …”
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Cysteinyl leukotriene receptor 1 is dispensable for osteoclast differentiation and bone resorption. by Hirofumi Fujita, Aoi Ando, Yohei Mizusawa, Mitsuaki Ono, Takako Hattori, Munenori Habuta, Toshitaka Oohashi, Satoshi Kubota, Hideyo Ohuchi

“…These mutant mice had a frameshift mutation resulting in a premature stop codon (Cysltr1 KO) or an in-frame mutation causing the deletion of the first extracellular loop (Cysltr1Δ105). …”
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Association of p21 SNPs and risk of cervical cancer among Chinese women by Wang Ning, Wang Shizhuo, Zhang Qiao, Lu Yanming, Wei Heng, Li Wei, Zhang Shulan, Yin Duo, Ou Yangling

“…<p>Abstract</p> <p>Background</p> <p>The p21 codon 31 single nucleotide polymorphism (SNP), rs1801270, has been linked to cervical cancer but with controversial results. …”
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Targeted Mutagenesis of the Female-Suppressor <i>SyGI</i> Gene in Tetraploid Kiwifruit by CRISPR/CAS9 by Gloria De Mori, Giusi Zaina, Barbara Franco-Orozco, Raffaele Testolin, Emanuele De Paoli, Guido Cipriani

“…Despite not yet being able to verify the phenotypic effects on the flower structure, due to the long time required by tissue-cultured kiwifruit plants to flower, we obtained two regenerated lines showing near fixation of a unique modification in their genome, resulting in both cases in the onset of a premature stop codon, which induces the putative gene knock-out. …”
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Altered larval activation response associated with multidrug resistance in the canine hookworm Ancylostoma caninum by Elise L. McKean, Emilia Grill, Young-Jun Choi, Makedonka Mitreva, Damien M. O'Halloran, John M. Hawdon

“…A second, recently described mutation in codon 134 (Q134H) was also detected at lower frequency in the BCR population. …”
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Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history by Rozany Mucha Dufloth, Sílvia Carvalho, Juliana Karina Heinrich, Júlia Yoriko Shinzato, César Cabello dos Santos, Luiz Carlos Zeferino, Fernando Schmitt

“…The BRCA1 mutation is a frameshift located at codon 1756 of exon 20: 5382 ins C. Two BRCA2 mutations were nonsense mutations located at exon 11: S2219X and the other was an unclassified variant located at exon 11: C1290Y. …”
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Mutation Analysis and Single Nucleotide Polymorphism (SNP) of TP53 in Breast CancerIn East Java by Rizqa Radhiyah, I Kade Karisma Gita Ardana, Wisnubroto, Dwi Listyorini, Hendra Susanto

“…Substitution of Guanine (G) to base Adenine (A)is occur in codon 496 which is a coding region. SNP was also obtained in exon of sample 12. …”
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Mitochondrial genomes of two phlebotomine sand flies, Phlebotomus chinensis and Phlebotomus papatasi (Diptera: Nematocera), the first representatives from the family Psychodidae by Fei Ye, Ting Liu, Stanley D. King, Ping You

“…The phylogenetic relationship of 24 selected representatives of Diptera was deduced from codon positions 1 and 2 for 13 protein coding genes, using Bayesian inference (BI) and maximum likelihood (ML) methods. …”
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Missense Variants in <i>COL4A1/2</i> Are Associated with Cerebral Aneurysms: A Case Report and Literature Review by Masahiro Uemura, Natsuki Tanaka, Shoichiro Ando, Takehiko Yanagihara, Osamu Onodera

“…Results: This study included 53 <i>COL4A1/2</i> variants from 76 patients. Except for one start codon variant, all the identified variants in CA were missense variants. …”
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Modeling mutation-specific arrhythmogenic phenotypes in isogenic human iPSC-derived cardiac tissues by Thomas L. Maurissen, Masahide Kawatou, Víctor López-Dávila, Kenji Minatoya, Jun K. Yamashita, Knut Woltjen

“…To model inherited cardiac arrhythmias we selected representative N588D and N588K missense mutations affecting the same codon in the hERG potassium channel gene KCNH2, which are reported to cause long (LQTS) and short (SQTS) QT syndromes, respectively. …”
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Primary Well-Differentiated Neuroendocrine Tumor of the Kidney by Vishnu Prasad, Charakkulam Vijay Sreelakshmi, K Ravi Chandran, Shashank Agrawal, Ginil Kumar Pooleri, Amrita Sao

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