Characterization of the Plastid Genome of the Vulnerable Endemic <i>Indosasa lipoensis</i> and Phylogenetic Analysis by Ming-Li Wu, Rong-Rong Yan, Xue Xu, Guang-Qian Gou, Zhao-Xia Dai

“…The plastomes were highly conservative, compared to other bamboo species, and exhibited similar patterns of codon usage, number of repeat sequences, and expansion and contraction of the IR boundary. …”
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A homozygous EVC mutation in a prenatal fetus with Ellis–van Creveld syndrome by Jie Wang, Xiaohua Wang, Yueqi Jia, Xiangnan Li, Guohui Liu, Rula Sa, Haiquan Yu

“….‐164_174del, which ultimately leads to a 337 bp deletion at the 3′ end of exon 1 and loss of the start codon. Conclusion This is the first reported case of EvC syndrome based on a splicing variant and detailed delineation of the aberrant splicing effect in the fetus. …”
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Chromophobe Renal Cell Carcinoma with Sarcomatoid Differentiation by Benjamin Lichtbroun, Brian Shinder, Tina Gowda Sara, Arnav Srivastava, Biren Saraiya, Tina Mayer, Ryan Cristelli, Evita Sadimin, Robert Weiss, Eric Singer

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Duchenne muscular dystrophy caused by a deletion (c.5021del) in exon 35 of the DMD gene: A case report and review of the literature by Yue Liu, Yanhui Tang, Hui Zhang, Hongying Chen, Qing Luo, Jinbo Liu

“…A deletion (c.5021del) in exon 35 of the dystrophin gene was identified, which was predicted to generate a frameshift mutation and create an early termination codon (p.Leu1674CysfsTer47). It has a pathogenic effect against dystrophin in the muscle cell membrane of the patient. …”
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Upregulation of the PatAB Transporter Confers Fluoroquinolone Resistance to Streptococcus pseudopneumoniae by María Alvarado, Antonio J. Martín-Galiano, María J. Ferrándiz, Ángel Zaballos, Adela G. de la Campa, Adela G. de la Campa

“…Complete genome sequencing indicated that the sequence located between the promoter of the patAB operon and the initiation codon of patA, which putatively forms an RNA stem-loop structure, may be responsible for the efflux phenotype. …”
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Amh Polymorphisms and their association with traits indicative of sexual precocity in nelore heifers by Julia Cestari Pierucci, Humberto Tonhati, Lúcia Galvão de Albuquerque, Diercles Francisco Cardoso, Daniel Jordan de Abreu dos Santos, Ana Cláudia Freitas, Marina Mortati Dias Barbero, Gregório Miguel Ferreira de Camargo, Camila Urbano Braz, Lindsay Unno Gimenes

“…A total of three SNPs were identified in this study, all of them located in exon 5 (rs527023314, rs722016629, and rs134387246), the latter one positioned in the stop codon. All three SNPs identified in exon 5 characterized synonymous mutations. …”
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Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon by Anna I Vickrey, Rebecca Bruders, Zev Kronenberg, Emma Mackey, Ryan J Bohlender, Emily T Maclary, Raquel Maynez, Edward J Osborne, Kevin P Johnson, Chad D Huff, Mark Yandell, Michael D Shapiro

“…In contrast, barless rock pigeons have an increased incidence of vision defects and, like human families with hereditary blindness, carry start-codon mutations in NDP. In summary, we find that both coding and regulatory variation in the same gene drives wing pattern diversity, and post-domestication introgression supplied potentially advantageous melanistic alleles to feral populations of this ubiquitous urban bird.…”
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Structure Prediction of a Thermostable SR74 α-Amylase from <i>Geobacillus stearothermophilus</i> Expressed in CTG-Clade Yeast <i>Meyerozyma guilliermondii</i> Strain SO by Si Jie Lim, Noor Dina Muhd Noor, Abu Bakar Salleh, Siti Nurbaya Oslan

“…However, the CUG ambiguity present in the strain SO has possibly altered the amino acid residues in SR74 amylase wild type (WT) encoded by CUG the codon from the leucine to serine. From the multiple sequence alignment, six mutations were found in recombinant SR74 α-amylase (rc). …”
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Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches by Peter Valent, Cem Akin, Karoline V. Gleixner, Wolfgang R. Sperr, Andreas Reiter, Michel Arock, Massimo Triggiani

“…In &gt;80% of patients with systemic mastocytosis (SM), a somatic point mutation in <i>KIT</i> at codon 816 is found. Whereas patients with indolent forms of the disease have a normal or near-normal life expectancy, patients with advanced mast cell neoplasms, including aggressive SM and mast cell leukemia, have a poor prognosis with short survival times. …”
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Toward reconstructing the evolution of advanced moths and butterflies (Lepidoptera: Ditrysia): an initial molecular study by Hausmann Axel, Hallwachs Winifred, Epstein Marc, Davis Donald R, Parr Cynthia, Brown John W, Baixeras Joaquin, Roe Amanda, Weller Susan, Cho Soowon, Kawahara Akito Y, Cummings Michael P, Zwick Andreas, Regier Jerome C, Janzen Daniel H, Kitching Ian J, Solis M Alma, Yen Shen-Horn, Bazinet Adam L, Mitter Charles

“…</p> <p>Separate analyses of mostly synonymous versus non-synonymous character sets revealed notable differences (though not strong conflict), including a marked influence of compositional heterogeneity on apparent signal in the third codon position (nt3). As available model partitioning methods cannot correct for this variation, we assessed overall phylogeny resolution through separate examination of trees from each character set. …”
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Assembly and comparative analysis of the complete mitochondrial genome of Ilex metabaptista (Aquifoliaceae), a Chinese endemic species with a narrow distribution by Peng Zhou, Qiang Zhang, Fei Li, Jing Huang, Min Zhang

“…Repeat sequence analysis and prediction of RNA editing sites revealed a total of 286 dispersed repeats, 140 simple repeats, 18 tandem repeats, and 543 RNA editing sites. Analysis of codon usage showed that codons ending in A/T were preferred. …”
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AAV-Mediated Targeting of the Activin A-ACVR1^R206H Signaling in Fibrodysplasia Ossificans Progressiva by Yeon-Suk Yang, Chujiao Lin, Hong Ma, Jun Xie, Frederick S. Kaplan, Guangping Gao, Jae-Hyuck Shim

“…AAV gene therapy carrying the combination of codon-optimized human ACVR1 (ACVR1^opt) and artificial miRNAs targeting Activin A and its receptor ACVR1^R206H ablated the aberrant activation of BMP-Smad1/5 signaling and the osteogenic differentiation of <i>Acvr1^R206H/+</i> skeletal progenitors. …”
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TrichoGate: An Improved Vector System for a Large Scale of Functional Analysis of Trichoderma Genes by Guillermo Nogueira-López, Fabiola Padilla-Arizmendi, Sarah Inwood, Sarah Inwood, Sarah Lyne, Johanna M. Steyaert, Johanna M. Steyaert, Maria Fernanda Nieto-Jacobo, Maria Fernanda Nieto-Jacobo, Alison Stewart, Alison Stewart, Artemio Mendoza-Mendoza

“…Here, we present the creation of diverse vectors containing (i) promoter-specific vectors for Trichoderma, (ii) gene deletions (using hygromycin phosphotransferase as selection marker), (iii) protein localization (mCherry and eGFP, which were codon-optimized for Trichoderma), (iv) gene complementation (neomycin phosphotransferase) and (v) overexpression of encoding gene proteins fused to fluorescent markers, by using the Golden Gate cloning technology. …”
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Comparative Mitogenomics of True Frogs (Ranidae, Anura), and Its Implications for the Phylogeny and Evolutionary History of <i>Rana</i> by Wan Chen, Weiya Qian, Keer Miao, Ruen Qian, Sijia Yuan, Wei Liu, Jianhua Dai, Chaochao Hu, Qing Chang

“…In this study, we sequenced and annotated the complete mitochondrial genome of <i>R. longicrus</i> and <i>R. zhenhaiensis</i>, containing 22 tRNAs, 13 protein-coding genes, two ribosomal RNAs, and a non-coding region, with 17,502 bp and 18,006 bp in length, respectively. In 13 protein codon genes, the COI was the most conserved, and ATP8 had a fast rate of evolution. …”
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A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review by Xinting Liu, Chen Chen, Lin Wan, Gang Zhu, Yan Zhao, Lizhu Hu, Yan Liang, Jing Gao, Jing Wang, Guang Yang

“…Early appearance of the termination codon leads to protein truncation. Haploinsufficiency of the NSD1 gene causes the overgrowth disorders.…”
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Robotic Radical Nephrectomy with Vena Cava Thrombus Extraction (RRN-VCTE) for Renal Cell Carcinoma: A Meta-Analysis of Surgical Technique and Outcomes by Danilo Coco, Silvana Leanza

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Implications of Programmed Death Ligand-1 Positivity in Non-Clear Cell Renal Cell Carcinoma by Juan Chipollini, Mounsif Azizi, Charles C Peyton, Dominic H Tang, Jasreman Dhillon, Philippe E Spiess

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Distinct Morphological and Behavioural Alterations in ENU-Induced Heterozygous <i>Trpc7^K810Stop</i> Mutant Mice by Birgit Rathkolb, Maike Howaldt, Stefan Krebs, Petra Prückl, Susanne Sauer, Martin Hrabě de Angelis, Bernhard Aigner

“…The causative mutation was detected in the gene <i>Trpc7</i> which leads to the production of a truncated protein due to the novel stop codon at amino acid position 810 thereby affecting the highly conserved cytoplasmic C terminus of the protein. …”
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Complete mitochondrial genome sequences for Crown-of-thorns starfish <it>Acanthaster planci </it>and <it>Acanthaster brevispinus</it> by Saba Masaki, Nagai Satoshi, Sasaki Miho, Hamaguchi Masami, Yasuda Nina, Nadaoka Kazuo

“…</p> <p>Conclusion</p> <p>The gene arrangement, base composition, codon usage and tRNA structure of <it>A. planci </it>are similar to those of <it>A. brevispinus</it>. …”
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Oligo-dT anchored cDNA-SRAP and cDNA-SCoT aided identification of transcripts differentially expressed during the early stages of recovery of resurrection plant Haberlea rhodopensi... by Elena Kumanova, Gergana Mihailova, Elena Georgieva Todorovska, Katya Georgieva, Stefan Tsonev, Nikolai Kirilov Christov

“…In this study we performed a differential screening using a new approach, based on oligo-dT anchored cDNA-SRAP (copy DNA sequence-related amplified polymorphism) and a modified oligo-dT anchored cDNA-SCoT (copy DNA start codon targeted) assays to provide new information on genes involved in the tolerance to low temperature stress and the recovery of H. rhodopensis. …”
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