Spatiotemporal and genomic analysis of carbapenem resistance elements in Enterobacterales from hospital inpatients and natural water ecosystems of an Irish city by Mark Maguire, Carlos Serna, Natalia Montero Serra, Aneta Kovarova, Louise O’Connor, Niamh Cahill, Brigid Hooban, Niall DeLappe, Wendy Brennan, Genevieve Devane, Martin Cormican, Dearbháile Morris, Simone C. Coughlan, Georgios Miliotis, Bruno Gonzalez-Zorn, Liam P. Burke

“…In every isolate, each CEG was surrounded by a gene-specific common genetic environment which constituted part, or all, of a transposable element that was present in both plasmids and the bacterial chromosome. Transposons Tn1999 and Tn4401 were associated with blaOXA-48 and blaKPC-2, respectively, while blaNDM-5 was associated with variable IS26 bound composite transposons, usually containing a class 1 integron.IMPORTANCESince 2018, the Irish National Carbapenemase-Producing Enterobacterales (CPE) Reference Laboratory Service at University Hospital Galway has performed whole-genome sequencing on suspected and confirmed CPE from clinical specimens as well as patient and environmental screening isolates. …”
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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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RECQL4 affects MHC class II‐mediated signalling and favours an immune‐evasive signature that limits response to immune checkpoint inhibitor therapy in patients with malignant melan... by Sara Egea‐Rodriguez, Renáta Váraljai, Thierry M. Nordmann, Restuan Lubis, Manuel Philip, Florian Rambow, Alexander Roesch, Michael Flaig, Susanne Horn, Raphael Stoll, Fang Zhao, Annette Paschen, Bert Klebl, Ian D. Hickson, Dirk Schadendorf, Matthias Mann, Iris Helfrich

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Diversity and Complexity of CTXΦ and Pre-CTXΦ Families in <em>Vibrio cholerae</em> from Seventh Pandemic by Xiaorui Li, Yu Han, Wenxuan Zhao, Yue Xiao, Siyu Huang, Zhenpeng Li, Fenxia Fan, Weili Liang, Biao Kan

“…We identified two CTXΦ members and six pre-CTXΦ members with distinct <i>rstR</i> alleles, revealing complex chromosomal DNA integration patterns and arrangements of different prophages in these strains. …”
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Meta-analysis: p16INK4α (Cyclin Dependent Kinase Inhibitor 2A) is one of the major causes of nasopharyngeal cancer by Lao Đức Thuận, Nguyễn Thị Ngọc Thảo, Thiều Hồng Huệ, Nguyễn Trung Hiếu, Phạm Thị Thúy Ngọc, Trần Bích Thư, Lê Huyền Ái Thúy

“…The p16INK4α gene is located on the short arm of chromosome 9 at position 9p21.3, consisting of three exons encoding 156 amino acids (Coppé et al., 2011). …”
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Production of all-triploid derived from gynogenetic homologous diploid crucian carp (♀) × diploid red crucian carp (♂) by Chongqing Wang, Yan Tang, Xiang Luo, Yuxin Zhang, Yue Zhou, Qingwen Xiao, Zhengkun Liu, Xinyi Deng, Xu Huang, Xidan Xu, Xiaowei Xu, Kun Zhang, Qinbo Qin, Shaojun Liu

“…All 3nRR possessed 150 chromosomes and were triploid hybrids. The genetic characteristics of 5S rDNA in 3nRR individuals and their parental counterparts, as well as the measurable and countable traits, were explored. …”
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Screening of Genes Related to Resistance to Bacterial Leaf Blight in Oryza officinalis by using RNA-seq Technology by Yayun YANG, Feifei ZHANG, Famei ZHANG, Xinxiang A, Chao DONG, Cuifeng TANG, Chunyun YANG, Luyuan DAI

“…【Objective】Oryza officinalis belongs to the CC chromosome group of rice genus, and it had accumulated a large number of resistance genes that adapt to harsh environments during long-term natural survival. …”
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TERTp Mutation and its Prognostic Value in Glioma Patients Under the 2021 WHO Classification: A Real‐World Study by Hao Xing, Delin Liu, Junlin Li, Yulu Ge, Xiaopeng Guo, Wenlin Chen, Dachun Zhao, Yixin Shi, Yilin Li, Yaning Wang, Yuekun Wang, Yu Xia, Jiaming Wu, Tingyu Liang, Hai Wang, Qianshu Liu, Shanmu Jin, Tian Qu, Siying Guo, Huanzhang Li, Tianrui Yang, Kun Zhang, Yu Wang, Wenbin Ma

“…Samples were analyzed for TERTp mutation and 59 other gene alterations and chromosome copy number variations. Results A total of 207 patients were included. …”
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Introgression of common wheat lines with genetic material of Agropyron glaucum by R. O. Davoyan, I. V. Bebyakina, E. R. Davoyan, A. N. Zinchenco, Y. S. Zubanova, D. S. Mikov

“…&amp; Schult is a valuable source of genes for resistance to diseases, frost resistance, and salt tolerance. An unstable 76-chromosomal amphidiploid combining genomes A and B of common wheat variety Avrora, six chromosomes of genome D of the same variety, and a full set of Ag. glaucum (2n = 42) chromosomes was used as an intermediate to transfer the genetic material from the wild donor to the said wheat variety. …”
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Prenatal Diagnosis of Triploidy. Case Report and Literature Review by Pedro Alí Díaz-Véliz Jiménez, Belkis del Carmen Vidal Hernández, Iliana González Santana

“…Triploidy is a lethal numerical chromosomal alteration characterized by an additional haploid chromosomal complement, 99.9 % of these are lost between the first and second trimesters of pregnancy and 15 % of fetuses end in spontaneous abortions before 20 weeks. …”
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MOLECULAR DIVERSITY OF COMMON WHEAT INTROGRESSION LINES (T. AESTIVUM / T. TIMOPHEEVII) by I. N. Leonova, O. A. Orlovskaya, M. S. Röder, M. A. Nesterov, E. B. Budashkina

“…Comparison of genetic diversity indices of individual chromosomes revealed the lowest diversity for SSR loci on chromosomes 4D and 5D and the highest (0,62–0,67), on 5B and 6A. …”
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Study on the Imprinting Status of Insulin-Like Growth Factor II (IGF-II) Gene in Villus during 6–10 Gestational Weeks by Jianhong Chen, Qun Fang, Baojiang Chen, Yi Zhou, Yanmin Luo

“…The relationship between chromosomal abnormal karyotype and IGF-II gene imprinting status was analyzed by primary cell culture and G-banding chromosomal karyotype analysis. …”
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High-Risk Microgranular Acute Promyelocytic Leukemia with a Five-Way Complex Translocation Involving PML-RARA by Benjamin Powers, Diane Persons, Deepthi Rao, Janet Woodroof, Tara L. Lin

“…Acute promyelocytic leukemia (APL) is classically characterized by chromosomal translocation (15;17), resulting in the PML-RARA fusion protein leading to disease. …”
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Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay by Jianxin Tan, Mingtao Huang, Xiuqing Ji, An Liu, Fengchang Qiao, Cuiping Zhang, Lulu Meng, Yan Wang, Zhengfeng Xu, Ping Hu

“…Abstract Background Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. …”
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Control of meiotic crossing over in plant breeding by S. R. Strelnikova, R. A. Komakhin

“…Meiotic crossing over is the main mechanism for constructing a new allelic composition of individual chromosomes and is necessary for the proper distribution of homologous chromosomes between gametes. …”
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Creation and study of emmer (<i>Triticum dicoccum</i>) × triticale hybrids by O. G. Silkova, Y. N. Ivanova, P. I. Stepochkin

“…Rye chromosomes showed stable formation of bivalents in contrast to wheat chromosomes, which caused the presence of aneuploids in plant populations. …”
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Evaluation of utilization of amplified blastocoel fluid DNA gel electrophoresis band intensity as an additional minimally invasive approach in embryo selection: A cross-sectional s... by Fattaneh Khajehoseini, Zahra Noormohammadi, Poopak Eftekhari-Yazdi, Hamid Gourabi, Reza Pazhoomand, Shirzad Hosseinishenatal, Masood Bazrgar

“…Notably, electrophoresis band of all embryos with chromosomal loss was strong. No correlation was observed between embryo morphology and chromosomal ploidy (p = 0.8).  …”
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Genomic Alterations in Primary Gastric Adenocarcinomas Correlate with Clinicopathological Characteristics and Survival by Marjan M. Weiss, Ernst J. Kuipers, Cindy Postma, Antoine M. Snijders, Daniel Pinkel, Stefan G. M. Meuwissen, Donna Albertson, Gerrit A. Meijer

“…Background & aims: Pathogenesis of gastric cancer is driven by an accumulation of genetic changes that to a large extent occur at the chromosomal level. In order to investigate the patterns of chromosomal aberrations in gastric carcinomas, we performed genome‐wide microarray based comparative genomic hybridisation (microarray CGH). …”
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The Identification of Molecular Ploidy Status of Abnormal Pronuclear Zygotes Reveals a Significant Number of Euploid Blastocysts Available for Conception by Blair R. McCallie, Mary E. Haywood, Lauren N. Henry, Rachel M. Lee, William B. Schoolcraft, Mandy G. Katz-Jaffe

“…<b>Objective:</b> Abnormally fertilized embryos are often discarded during in vitro fertilization due to the fact that known chromosomal ploidy abnormalities lead to implantation failure or pregnancy loss. …”
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Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome by Petra van der Lelij, Anneke B. Oostra, Martin A. Rooimans, Hans Joenje, Johan P. de Winter

“…This complication may be avoided by scoring metaphase chromosomes—in addition to chromosomal breakage—for spontaneously occurring premature centromere division, which is characteristic for RBS and WABS, but not for FA.…”
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