Assembly and comparative analysis of the complete mitochondrial genome of red raspberry (Rubus idaeus L.) revealing repeat-mediated recombination and gene transfer by Huajie Zhang, Minghui Yan, Lijuan Li, Zhuo Jiang, Ye Xiong, Yusheng Wang, Caleb Onoja Akogwu, Olutayo Mary Tolulope, Hao Zhou, Yanxia Sun, Hengchang Wang

“…Results The mitogenome is represented by one circular chromosome of 438,947 bp. Twenty-four core genes, nine variable genes, 26 tRNAs, and three rRNAs were annotated. …”
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Discovery of 15-deoxynaphthomycins activating the antioxidant NRF2-ARE pathway from Streptomyces sp. N50 via genome mining, global regulator introduction, and molecular networking by Min-Seon Kim, Baskar Selvaraj, Hee-Tae Yeo, Jun-Su Park, Jae Wook Lee, Jin-Soo Park

“…Upon sequencing its entire genome, 33 biosynthetic gene clusters (BGCs) were identified in a chromosome and a megaplasmid. Subsequent genome mining revealed that the new 15-deoxynaphthomycin could be produced due to the presence of an enoyl reductase domain, which is absent in the known BGC of naphthomycin, a type of ansamycin antibiotics. …”
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NCAPD3‐mediated AKT activation regulates prostate cancer progression by Yi Zhang, Wanlin Xie, Xicui Zong, Yuanyuan Fang, Jia Ren, Zuolei Jing, Yong Wei, Shan Lu, Qingyi Zhu, Ping Liu

“…Non‐SMC Condensin II Complex Subunit D3 (NCAPD3) is a subunit of condensin II complex, mainly involved in the mitotic chromosome condensation of cells. This study aimed to figure out the detailed mechanisms by which NCAPD3 contributed to prostate cancer development. …”
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Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration by Yuki Kawashima-Sonoyama, Keisuke Wada, Kei Yamamoto, Masanobu Fujimoto, Noriyuki Namba, Takeshi Taketani

“…Four cases were caused by a deletion of chromosome 15q26.3, and eight were caused by heterozygous pathogenic variants in the IGF1R gene. …”
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Genomic insights into a multidrug-resistant pandoraea apista clinical isolate carrying blaOXA-153 from China by Lirong Li, Yawen Zhang, Fang He, Ningjun wu

“…Complete genomic sequencing of five strains confirmed the chromosomal presence of blaOXA-153. The isolation sources of these 24 strains were predominantly clinical samples, mainly respiratory specimens, with some strains isolated from environmental sources. …”
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Developmental deficits, synapse and dendritic abnormalities in a Clcn4 KO autism mice model: endophenotypic target for ASD by Seong Mi Lee, Yura Choi, Dayeon Kim, Ha Jin Jeong, Young Ho Do, Sohee Jung, Bomee Lee, Hyung Jun Choi, Suhyeon Kim, Jung-Min Oh, Songhee Jeon, Jinju Han, Yeni Kim

“…We generated Clcn4 knockout (KO) mice by deleting exon 5 of chromosome 7 in the C57BL/6 mice. Clcn4 KO exhibited reduced social interaction and increased repetitive behaviors assessed using three-chamber and marble burying tests. …”
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Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil by Ana Letícia Amorim de Albuquerque, Júlia Kersting Chadanowicz, Isabela Possebon Bevilacqua, Ana Lucia Portella Staub, Pablo Brea Winckler, Patricia Zambone da Silva, Simone Chaves Fagondes, Renata Salatti Ferrari, Claudia Denise de Oliveira Trojahn, Viviane Zechlinski Sacharuk, Thayne Woycinck Kowalski, Karina Carvalho Donis, Michele Michelin Becker, Jonas Alex Morales Saute

“…Objective: Spinal Muscular Atrophy linked to chromosome 5q (SMA) is an autosomal recessive neurodegenerative disease characterized by progressive proximal muscle atrophy and weakness. …”
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CGH, cDNA and Tissue Microarray Analyses Implicate FGFR2 Amplification in a Small Subset of Breast Tumors by Mervi Heiskanen, Juha Kononen, Maarit Bärlund, Joachim Torhorst, Guido Sauter, Anne Kallioniemi, Olli Kallioniemi

“…According to CGH, the SUM‐52 breast cancer cell line harbors several high‐level DNA amplification sites, including the 10q26 chromosomal region where the fibroblast growth factor receptor 2 (FGFR2) gene has been localized. …”
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Genomic deletions on 16p11.2 associated with severe obesity in Brazil by Izadora Sthephanie da Silva Assis, Izadora Sthephanie da Silva Assis, Kaio Cezar Rodrigues Salum, Kaio Cezar Rodrigues Salum, Kaio Cezar Rodrigues Salum, Rafaela de Freitas Martins Felício, Lohanna Palhinha, Gabriella de Medeiros Abreu, Gabriella de Medeiros Abreu, Tamara Silva, Fernanda Cristina Carvalho Mattos, Eliane Lopes Rosado, Verônica Marques Zembrzuski, Mario Campos Junior, Clarissa Menezes Maya-Monteiro, Pedro Hernán Cabello, João Regis Ivar Carneiro, Patrícia Torres Bozza, Ana Carolina Proença da Fonseca, Ana Carolina Proença da Fonseca, Ana Carolina Proença da Fonseca, Ana Carolina Proença da Fonseca

“…We investigated the CNV using Multiplex Ligation-dependent Probe Amplification [MLPA] and real-time PCR. Chromosomal microarray analysis was used to assess the extent of genomic alterations.ResultsOne patient showed a ~206 kb deletion in the distal of the 16p11.2 region, encompassing twelve genes. …”
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Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China by Chuan Huang, Li-Ming Chu, Bo Liang, Hui-Lan Wu, Bai-Shun Li, Shuai Ren, Mei-Ling Hou, Hong-Chuan Nie, Ling-Yin Kong, Li-Qing Fan, Juan Du, Wen-Bing Zhu

“…Among all the P/LP variants, missense mutation was the dominant type and most of them were located in exonic regions. Chromosome 1 harboured the largest number of variants and no pathogenic copy number variants (CNV) was identified in semen donors. …”
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Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing by Ahmed Bouhouche, Houyam Tibar, Yamna Kriouale, Mohammed Jiddane, Imane Smaili, Naima Bouslam, Ali Benomar, Mohamed Yahyaoui, Elmostafa El Fahime

“…To identify the disease-causing mutation, we performed a whole exome sequencing and a chromosomal microarray genotyping in order to reduce the number of genetic variants to be interpreted, by focusing the data analysis only on the linked loci. …”
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Genome‐Wide Diversity in Lowland and Highland Maize Landraces From Southern South America: Population Genetics Insights to Assist Conservation by Pia Guadalupe Dominguez, Angela Veronica Gutierrez, Monica Irina Fass, Carla Valeria Filippi, Pablo Vera, Andrea Puebla, Raquel Alicia Defacio, Norma Beatriz Paniego, Veronica Viviana Lia

“…Outlier detection methods allowed identification of putative adaptive genomic regions, consistent with previously reported flowering‐time loci and chromosomal regions displaying introgression from the teosinte Zea mays ssp. mexicana. …”
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Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion by Mirjana Babić Leko, Vera Župunski, Jason Kirincich, Dinko Smilović, Tibor Hortobágyi, Patrick R. Hof, Goran Šimić

“…An earlier discovery that a hexanucleotide repeat expansion mutation in chromosome 9 open reading frame 72 (C9orf72) gene causes ALS and FTD established a special subtype of ALS and FTLD with TDP-43 pathology (C9FTD/ALS). …”
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Emergence of Carbapenem-Resistant <i>bla</i>_POM-1 Harboring <i>Pseudomonas otitidis</i> Isolated from River Water in Ghana by Frederick Ofosu Appiah, Samiratu Mahazu, Isaac Prah, Taira Kawamura, Yusuke Ota, Yohei Nishikawa, Mitsunori Yoshida, Masato Suzuki, Yoshihiko Hoshino, Toshihiko Suzuki, Tomoko Ishino, Anthony Ablordey, Ryoichi Saito

“…<b>Results:</b> The strains carried <i>bla</i>_POM-1 on the chromosome, with only Tg_9B showing intermediate resistance to meropenem. …”
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High levels of type II Fusarium head blight resistance conferred in wheat by combining wheat gene Fhb1 with Lophopyrum elongatum gene Fhb7The2 by Jan Dvorak, Karin R. Deal, Patrick E. McGuire, Emily J. Conley, James A. Anderson, George Fedak, Julia A. Malvick, Han Chen, Hans-Georg Müller

“…Another excellent FHB resistance gene is Fhb7 located on the long arm of Lophopyrum elongatum chromosome 7E. Several alleles of Fhb7 have been identified. …”
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Generation and characterization of two induced pluripotent stem cell lines (ICGi052-A and ICGi052-B) from a patient with frontotemporal dementia with parkinsonism-17 associated wit... by E. V. Grigor’eva, A. A. Malakhova, E. S. Yarkova, J. M. Minina, Y. V. Vyatkin, J. A. Nadtochy, E. A. Khabarova, J. A. Rzaev, S. P. Medvedev, S. M. Zakian

“…The inherited form of frontotemporal dementia can be caused by mutations in several genes, including the MAPT gene on chromosome 17, which encodes the tau protein. As there are currently no medically approved treatments for frontotemporal dementia, there is an urgent need for research using in vitro cell models to understand the molecular genetic mechanisms that lead to the development of the disease, to identify targets for therapeutic intervention and to test potential drugs to prevent neuronal death. …”
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A Toxicological Evaluation of Methylliberine (Dynamine®) by Timothy S. Murbach, Róbert Glávits, John R. Endres, Amy E. Clewell, Gábor Hirka, Adél Vértesi, Erzsébet Béres, Ilona Pasics Szakonyiné

“…A (1) bacterial reverse mutation test, (2) in vitro mammalian chromosomal aberration test, (3) in vivo mammalian micronucleus test, and (4) 90-day repeated-dose oral toxicity study in rats with a 28-day recovery period were conducted. …”
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The role of highly dispersed silica nanoparticles in the realization of the effects of granulosa on the maturation and fertilization competence of <i>Sus scrofa domesticus</i> oocy... by T. I. Kuzmina, I. V. Chistyakova, A. O. Prituzhalova, D. N. Tatarskaya

“…Optimal results of developmental competence of oocytes were achieved with the joint use of GCs and HDSn in the maturation system (the proportion of matured cells reached 89 %, the level of oocytes with chromosome degeneration was 12 %, 39 % of embryos reached the final stage of preimplantation development). …”
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Genomic, transcriptomic, and T cell receptor profiling in stratifying response to first-line chemoradiotherapy or radiotherapy for esophageal squamous cell carcinoma by Xiaqin Zhang, Jianhong Lian, Fukun Chen, Kai Wang, Haoyuan Xue, Sufang Jia, Weili Wang, Zhongkang Li, Hua Liang, Hongwei Li

“…The median TMB in the progression-free survival (PFS) low group was significantly higher than that in the PFS-high group. The chromosomal copy number variation (CNV) burden of the neutrophil-to-lymphocyte ratio (NLR)-high group appeared to be higher than that of the NLR-low group, and the StromalScore in the NLR-low group was significantly higher. …”
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Neoadjuvant atezolizumab + chemotherapy for resectable NSCLC: 3-year clinical update of phase II clinical trial results and translational findings by Benjamin Izar, Justin F Gainor, Mark M Awad, Codruta Chiuzan, Anjali Saqi, Catherine A Shu, Katja Schulze, Brian S Henick, Naiyer A Rizvi, Samyukta Mallick, Yohanna Georgis, Peter D Koch, Stephanie Izard, Robert F Garofano, Cheryl V Wong, Jessica Grindheim, Joshua R Sonett, Alison M Taylor

“…Reduced copy number of STK11 and KEAP1, both residing on chromosome 19p, was observed in ~1/3 of tumors. Reduced CN of STK11 was significantly associated with worse pathological response and incidence of BM.Conclusions Consistent with recent phase III studies, 3-year OS data with neoadjuvant atezolizumab+chemotherapy was associated with prolonged PFS and OS. …”
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