RECENT ADVANCES IN THE DEFINITION OF THE MOLECULAR ALTERATIONS OCCURRING IN MULTIPLE MYELOMA by Ugo Testa, Elvira Pelosi, Germana Castelli, Giuseppe Leone

“…Based on disease biology, trials are enriched for high-risk MMs, whose careful definition and categorization requires DNA sequencing studies.   Keywords: Multiple Myeloma; Chromosome Abnormalities; Molecular Events; Mutations.       …”
Get full text

Rare Suprasellar Chordoid Meningioma with INI1 Gene Mutation by Imad Fadl-Elmula, Rania Giha, Sawsan AH Deaf, Lamyaa Ahmed El Hassan, Ahmed M. Hassan, Mohamed AR Arbab

“…Genomic DNA was extracted and mutation analysis for INI1 gene using primer of exon 4, 5, 7, and 9 showed mutation involving exon 9. DNA sequencing showedheterozygosity C­­­­­­­­­­­­­­­­­­-T mutation in exon 9 of INI1 gene leading to change of amino acid serine to phenylalanine at (codon 63). …”
Get full text

A new species of parrot snake, Leptophis (Serpentes: Colubridae) from the Brazilian Cerrado by Nelson R. Albuquerque, Roullien H. Martins, Priscila S. Carvalho, Donald B. Shepard, Diego J. Santana

“…Phylogenetic analysis of 16S mtDNA sequences indicate the new species is the sister taxon of L. dibernardoi, a species occurring in the neighboring Caatinga ecoregion.…”
Get full text

Single‐egg comet assay: A protocol to quantify DNA damage in natural bioarchives by Rejin Salimraj, Alessio Perotti, Marcin W. Wojewodzic, Dagmar Frisch

“…We optimised the CA protocol for individual dormant propagules (single‐egg comet assay or SE‐CA) to inform downstream analyses such as DNA sequencing of the DNA quality contained in natural genetic archives of past populations. …”
Get full text

Nocardia thailandica Brain Abscess in an Immunocompromised Patient by Muhammad Effendi, Samad Tirmizi, Dayna McManus, Anita J. Huttner, David R. Peaper, Jeffrey E. Topal

“…Upon identification by 16S rDNA sequencing, the organism causing infection was identified to be N. thailandica. …”
Get full text

Environmental gradients shape genetic variation in the desert moss, Syntrichia caninervis Mitt. (Pottiaceae) by Ugbad A. Farah, Kirsten M. Fisher

“…Here, we sampled S. caninervis from sites along two elevation gradients and used restriction site associated DNA sequencing to compare the relative impacts of environmental factors and geospatial distances on genetic differentiation in S. caninervis populations. …”
Get full text

Activity of the mammalian DNA transposon piggyBat from Myotis lucifugus is restricted by its own transposon ends by Alison B. Hickman, Laurie Lannes, Christopher M. Furman, Christina Hong, Lidiya Franklin, Rodolfo Ghirlando, Arpita Ghosh, Wentian Luo, Parthena Konstantinidou, Hernán A. Lorenzi, Anne Grove, Astrid D. Haase, Matthew H. Wilson, Fred Dyda

“…Here, we have investigated the transposition properties of piggyBat from Myotis lucifugus, the only known active mammalian DNA transposon, and show that its low activity in human cells is due to subterminal inhibitory DNA sequences. Activity can be dramatically improved by their removal, suggesting the existence of a mechanism for the suppression of transposon activity. …”
Get full text

Effective in vivo binding energy landscape illustrates kinetic stability of RBPJ-DNA binding by Duyen Huynh, Philipp Hoffmeister, Tobias Friedrich, Kefan Zhang, Marek Bartkuhn, Francesca Ferrante, Benedetto Daniele Giaimo, Rhett A. Kovall, Tilman Borggrefe, Franz Oswald, J. Christof M. Gebhardt

“…Abstract Transcription factors (TFs) such as RBPJ in Notch signaling bind to specific DNA sequences to regulate transcription. How TF-DNA binding kinetics and cofactor interactions modulate gene regulation is mostly unknown. …”
Get full text

Rapid in vitro method to assemble and transfer DNA fragments into the JCVI-syn3B minimal synthetic bacterial genome through Cre/loxP system by Atsuko Uenoyama, Hana Kiyama, Mone Mimura, Makoto Miyata

“…However, the construction process is challenging and time-consuming due to various issues, including the inhibition of E. coli growth and unexpected recombination, especially with AT-rich DNA sequences such as those found in Mycoplasma genes. …”
Get full text

Feline Papillomatosis by Herman Egberink, Katrin Hartmann, Ralf Mueller, Maria Grazia Pennisi, Sándor Belák, Séverine Tasker, Karin Möstl, Diane D. Addie, Corine Boucraut-Baralon, Tadeusz Frymus, Regina Hofmann-Lehmann, Fulvio Marsilio, Etienne Thiry, Uwe Truyen, Margaret J. Hosie

“…Besides cat-specific PVs, DNA sequences most closely related to human and bovine PVs have been detected in feline skin lesions. …”
Get full text

The effect of feed additive ethoxyquin on tilapia growth performance and potential secondary hazard to consumers by Shanjun Chen, Chong Wang, Yanan Liu, Zhigang Zhou, Linglin Fu, Yanbo Wang

“…Additionally, the microbiota in the intestinal content and flesh was analyzed by 16S rDNA sequencing, and the flesh metabolites was measured by LC-MS/MS untargeted metabolomics. …”
Get full text

Investigating mobile element variations by statistical genetics by Shohei Kojima

“…Mobile elements are DNA sequences that insert themselves into various genome locations. …”
Get full text

Detection of new single nucleotide polymorphisms in plasma cells carcinoma (myeloma) by polymerase chain reaction–single strand conformation polymorphism and sequencing technical m... by Sarah K. Obayes, Sabah H. Enayah, Shaimaa A. Al-Oubaidy, Rana A. Ghaleb

“…Genotyping of miRNA was accomplished using the polymorphism techniques of polymerase chain reaction and single strand conformation polymorphism (SSCP). DNA sequencing was also applied to categorize all the ranges of SSCP models detected using only gel imaging. …”
Get full text

Fatigue and Exercise Intolerance as Initial Manifestations of a Nonsyndromic Mitochondrial Disorder Due to the Variant m.3243A>G by Josef Finsterer, Sinda Zarrouk

“…Workup for suspected MID revealed ragged-red fibers and NADH-deficient muscle fibers, and biochemical investigations revealed a mild complex-I defect. mtDNA sequencing revealed the variant m.3243A>G with a heteroplasmy rate of 70% in the muscle. …”
Get full text

Molecular Markers for the Phylogenetic Reconstruction of <i>Trypanosoma cruzi</i>: A Quantitative Review by David Ramírez-Delgado, Carlos Alberto Flores-López

“…Based on three quantitative criteria (the number of phylogenetic informative characters, number of available reference sequences in public repositories, and accessibility to DNA sequences for their use as outgroup sequences), we examine and discuss the most appropriate genetic loci for the genetic typification of <i>T. cruzi</i>. …”
Get full text

Mechanism of Gene Amplification via Yeast Autonomously Replicating Sequences by Shelly Sehgal, Sanjana Kaul, M. K. Dhar

“…The amplification promoting sequences were chosen from the Saccharomyces cerevisiae ARS, 5S rRNA regions of Plantago ovata and P. lagopus, proposed sites of replication pausing at Ste20 gene locus of S. cerevisiae, and the bend DNA sequences within fragile site FRA11A in humans. The gene amplification assays showed that plasmid bearing APS from yeast and human beings led to enhanced protein concentration as compared to the wild type. …”
Get full text

The role of chromatin state in intron retention: A case study in leveraging large scale deep learning models. by Ahmed Daoud, Asa Ben-Hur

“…Large scale genomics deep learning models come in two flavors: the first are large language models of DNA sequences trained in a self-supervised fashion, similar to the corresponding natural language models; the second are supervised learning models that leverage large scale genomics datasets from ENCODE and other sources. …”
Get full text

Gene Mutation and Its Association with Clinicopathological Features in Young Patients with Non-Small-Cell Lung Cancer by Wencui Kong, Zongyang Yu, Wenwu Wang, Jingrong Yang, Jingfang Wang, Zhongquan Zhao

“…Clinicopathologic information of 102 young NSCLC patients was collected. Direct ctDNA sequencing of a portion of these patients was performed. …”
Get full text

The Laboratory Diagnosis of Neisseria gonorrhoeae by Lai-King Ng, Irene E Martin

“…The useful typing methods for determining strain relatedness include auxotyping, serotyping, plasmid profile analysis, DNA sequencing of the porB gene and pulsed-field gel electrophoresis. …”
Get full text

Cellular Reprogramming, Genome Editing, and Alternative CRISPR Cas9 Technologies for Precise Gene Therapy of Duchenne Muscular Dystrophy by Peter Gee, Huaigeng Xu, Akitsu Hotta

“…In the past decade, the development of two innovative technologies, namely, induced pluripotent stem cells (iPSCs) and the CRISPR Cas9 system, has enabled researchers to model diseases derived from patient cells and precisely edit DNA sequences of interest, respectively. In particular, Duchenne muscular dystrophy (DMD) has been an exemplary monogenic disease model for combining these technologies to demonstrate that genome editing can correct genetic mutations in DMD patient-derived iPSCs. …”
Get full text