Genome-Wide Association Study Identifies Candidate Loci Associated with Platelet Count in Koreans by Ji Hee Oh, Yun Kyoung Kim, Sanghoon Moon, Young Jin Kim, Bong-Jo Kim

“…We identified genetic associations between platelet count and common variants nearby chromosome 4p16.1 (p = 1.46 × 10-10, in the KIAA0232 gene), 6p21 (p = 1.36 × 10-7, in the BAK1 gene), and 12q24.12 (p = 1.11 × 10-15, in the SH2B3 gene). …”
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Ribosomes translocation into the spore of Bacillus subtilis is highly organised and requires peptidoglycan rearrangements by Olga Iwańska, Przemysław Latoch, Mariia Kovalenko, Małgorzata Lichocka, Joanna Hołówka, Remigiusz Serwa, Agata Grzybowska, Jolanta Zakrzewska-Czerwińska, Agata L. Starosta

“…During sporulation, the cell undergoes morphological changes including asymmetric division and chromosome translocation into the forespore. However, the fate of translational machinery during sporulation has not been described. …”
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Translocation (6;15)(q12;q15): A Novel Mutation in a Patient with Therapy-Related Myelodysplastic Syndrome by Saba F. Ali, Rebecca J. Sonu, Denis M. Dwyre, Brian A. Jonas, Hooman H. Rashidi

“…Most myelodysplastic syndromes (MDS) present with loss or gain of chromosomal material and less commonly show translocations as a sole abnormality. …”
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An Assessment of the Genotoxicity and Subchronic Toxicity of a Supercritical Fluid Extract of the Aerial Parts of Hemp by Tennille K. Marx, Robin Reddeman, Amy E. Clewell, John R. Endres, Erzsébet Béres, Adél Vértesi, Róbert Glávits, Gábor Hirka, Ilona Pasics Szakonyiné

“…No evidence of genotoxicity was found in a bacterial reverse mutation test (Ames), in an in vitro mammalian chromosomal aberration test, or in an in vivo mouse micronucleus study. …”
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Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism. by Qiao Fan, Xin Zhou, Chiea-Chuen Khor, Ching-Yu Cheng, Liang-Kee Goh, Xueling Sim, Wan-Ting Tay, Yi-Ju Li, Rick Twee-Hee Ong, Chen Suo, Belinda Cornes, Mohammad Kamran Ikram, Kee-Seng Chia, Mark Seielstad, Jianjun Liu, Eranga Vithana, Terri L Young, E-Shyong Tai, Tien-Yin Wong, Tin Aung, Yik-Ying Teo, Seang-Mei Saw

“…Variants in PDGFRA on chromosome 4q12 (lead SNP: rs7677751, allelic odds ratio = 1.26 (95% CI: 1.16-1.36), P(meta) = 7.87×10(-9)) were identified to be significantly associated with corneal astigmatism, exhibiting consistent effect sizes across all five cohorts. …”
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The genome sequence of the Montseny horsehair worm, Gordionus montsenyensis sp. nov., a key resource to investigate Ecdysozoa evolution by Eleftheriadi, Klara, Guiglielmoni, Nadège, Salces-Ortiz, Judit, Vargas-Chavez, Carlos, Martínez-Redondo, Gemma I., Gut, Marta, Flot, Jean-François, Schmidt-Rhaesa, Andreas, Fernández, Rosa

“…As part of the European Reference Genome Atlas pilot effort to generate reference genomes for European biodiversity, we present the taxonomic description and chromosome-level genome assembly of a newly described species of Nematomorpha (Gordionus montsenyensis Schmidt-Rhaesa & Fernández sp. nov.). …”
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The DNA Replication Stress Hypothesis of Alzheimer’s Disease by Yuri B. Yurov, Svetlana G. Vorsanova, Ivan Y. Iourov

“…Vulnerable neurons of the AD brain exhibit biomarkers of cell cycle progression and DNA replication suggesting a reentry into the cell cycle. Chromosome reduplication without proper cell cycle completion and mitotic division probably causes neuronal cell dysfunction and death. …”
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SP140L, an Evolutionarily Recent Member of the SP100 Family, Is an Autoantigen in Primary Biliary Cirrhosis by Mario Saare, Uku Hämarik, Rainis Venta, Marina Panarina, Chiara Zucchelli, Maire Pihlap, Anu Remm, Kai Kisand, Urve Toots, Kaidi Möll, Riina Salupere, Giovanna Musco, Raivo Uibo, Pärt Peterson

“…The SP100 family members comprise a set of closely related genes on chromosome 2q37.1. The widely expressed SP100 and the leukocyte-specific proteins SP110 and SP140 have been associated with transcriptional regulation and various human diseases. …”
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CUZD1 and Anti-CUZD1 Antibodies as Markers of Cancer and Inflammatory Bowel Diseases by Christos Liaskos, Eirini I. Rigopoulou, Timoklia Orfanidou, Dimitrios P. Bogdanos, Christos N. Papandreou

“…Human CUZD1 is mapped at chromosome 10q26.13 and the loss of this region is a frequent event in various malignant tumours. mRNA overexpression of CUZD1 has been noted in ovarian cancer and serum levels of CUZD1 are elevated in women with ovarian cancer and patients suffering from pancreatic cancer. …”
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Urinary Catheter Colonization by Multidrug-Resistant Cedecea neteri in Patient with Benign Prostatic Hyperplasia by Peter S. Ginn, Serina B. Tart, Stephen M. Sharkady, Dorothea K. Thompson

“…Analysis of whole genome sequence information for a representative C. neteri strain indicated the presence of multiple open reading frames with sequence similarity to β-lactamases, including a chromosome-encoded AmpC β-lactamase and metallo-β-lactamases, consistent with the resistance phenotype of this bacterium. …”
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The different faces of GATA2 deficiency: implications for therapy and surveillance by Luca Vinci, Brigitte Strahm, Carsten Speckmann, Carsten Speckmann, Miriam Erlacher, Miriam Erlacher

“…In this article, we report five patients with different hematological and immunological manifestations of GATA2 deficiency ranging from immunodeficiency and refractory cytopenia of childhood without chromosomal aberrations to relapsed MDS-related acute myeloid leukemia. …”
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Igf2/H19 Imprinting Control Region (ICR): An Insulator or a Position-Dependent Silencer? by Subhasis Banerjee, Alan Smallwood, Scott Lamond, Stuart Campbell, Geeta Nargund

“…On paternal inheritance, the methylated ICR silences the H19 gene and indirectly facilitates transcription from the distant Igf2 promoter, whereas on the maternal chromosome the unmethylated ICR, together with enhancers, activates transcription of the H19 gene and thereby contributes to the repression of Igf2. …”
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Origanum majorana Essential Oil Lacks Mutagenic Activity in the Salmonella/Microsome and Micronucleus Assays by Andrea dos Santos Dantas, Luiz Carlos Klein-Júnior, Miriana S. Machado, Temenouga N. Guecheva, Luciana D. dos Santos, Régis A. Zanette, Fernanda B. de Mello, João Antonio Pêgas Henriques, João Roberto Braga de Mello

“…Moreover, when tested in noncytotoxic concentrations, O. majorana essential oil was not able to induce chromosome mutation. The results from this study therefore suggest that O. majorana essential oil is not mutagenic at the concentrations tested in the Salmonella/microsome and micronucleus assays.…”
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Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing by Johan J. P. Gille, Karijn Floor, Lianne Kerkhoven, Najim Ameziane, Hans Joenje, Johan P. de Winter

“…A clinical diagnosis of FA needs to be confirmed by testing cells for sensitivity to cross-linking agents in a chromosomal breakage test. As a second step, DNA testing can be employed to elucidate the genetic subtype of the patient and to identify the familial mutations. …”
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Comprehensive Analysis of TSPAN32 Regulatory Networks and Their Role in Immune Cell Biology by Grazia Scuderi, Katia Mangano, Maria Cristina Petralia, Maria Sofia Basile, Francesco Di Raimondo, Paolo Fagone, Ferdinando Nicoletti

“…Tetraspanin 32 (TSPAN32), a member of the tetraspanin superfamily, is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of chromosome 11p15.5, a critical tumor-suppressor gene region. …”
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Potential Role of JAK-STAT Signaling Pathway in the Neurogenic-to-Gliogenic Shift in Down Syndrome Brain by Han-Chung Lee, Kai-Leng Tan, Pike-See Cheah, King-Hwa Ling

“…Trisomy of human chromosome 21 in Down syndrome (DS) leads to several phenotypes, such as mild-to-severe intellectual disability, hypotonia, and craniofacial dysmorphisms. …”
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H3K56 acetylation regulates chromatin maturation following DNA replication by Shoufu Duan, Ilana M. Nodelman, Hui Zhou, Toshio Tsukiyama, Gregory D. Bowman, Zhiguo Zhang

“…These findings establish a central role of H3K56ac in chromatin maturation and reveal a mechanism regulating this critical aspect of chromosome replication.…”
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Cryo-EM structure and evolutionary history of the conjugation surface exclusion protein TraT by Chloe Seddon, Sophia David, Joshua L. C. Wong, Naito Ishimoto, Shan He, Jonathan Bradshaw, Wen Wen Low, Gad Frankel, Konstantinos Beis

“…Unexpectedly, we identify chromosomal TraT homologues from multiple Gram-negative phyla which form numerous divergent lineages in a phylogenetic tree of TraT sequences. …”
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Metastatic Malignant Ectomesenchymoma Initially Presenting as a Pelvic Mass: Report of a Case and Review of Literature by A. Nael, P. Siaghani, W. W. Wu, K. Nael, Lisa Shane, S. G. Romansky

“…Cytogenetic analysis of metastatic tumor demonstrated complex karyotype with multiple chromosomal deletions and duplications. The patient received national protocol chemotherapy against neuroblastoma and adjuvant radiotherapy after surgical resection of the cerebellar tumor with good response. …”
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FusOn-pLM: a fusion oncoprotein-specific language model via adjusted rate masking by Sophia Vincoff, Shrey Goel, Kseniia Kholina, Rishab Pulugurta, Pranay Vure, Pranam Chatterjee

“…Abstract Fusion oncoproteins, a class of chimeric proteins arising from chromosomal translocations, are major drivers of various pediatric cancers. …”
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