Preimplantation aneuploidy screening using embryonic cell-free DNA isolated from spent culture medium: a case report by Lama Khudari, Marwan Halabi, Sahar Al Fahoum

“…Abstract Background Chromosomal aberrations are frequent in human embryos and can be identified during IVF by performing preimplantation genetic testing for aneuploidies (PGT-A). …”
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Genome-wide identification, characterization, and functional analysis of the CHX, SOS, and RLK genes in Solanum lycopersicum under salt stress by Amaal Maghraby, Mohamed Alzalaty

“…SOS genes were found on chromosomes 1, 4, 6, and 10. RLK genes were found on all chromosomes of S. lycopersicum. …”
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Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa by Sébastien Mbuyi-Musanzayi, Aimé Lumaka, Bienvenu Yogolelo Asani, Toni Lubala Kasole, Prosper Lukusa Tshilobo, Prosper Kalenga Muenze, François Tshilombo Katombe, Koenraad Devriendt

“…Trisomy 13 is a chromosomal disorder characterized by a severe clinical picture of multiple congenital anomalies. …”
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TRIM28 is an essential regulator of three-dimensional chromatin state underpinning CD8+ T cell activation by Kun Wei, Ruifeng Li, Xiaohong Zhao, Bowen Xie, Tian Xie, Qinli Sun, Yongzhen Chen, Peng Wei, Wei Xu, Xinyi Guo, Zixuan Zhao, Han Feng, Ling Ni, Chen Dong

“…In the absence of Trim28, RNA Pol II and cohesin binding to these regions diminishes, and the chromosomal structure required for the active state is disrupted. …”
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Near telomere-to-telomere assembly of the Tarim pigeon (Columba livia) genome by Wenhao Yang, Hao Zhou, Jinlong Huang, Wenqi Zhu, Haobin Hou, Hejun Li, Lele Zhao, Jiang Zhang, Jiajia Liu, Chao Qin, Liyuan Wang, Huaixi Luo, Jianshen Zhu, Fuquan Xiao, Junfeng Yao, Changsuo Yang, He Meng

“…And telomeres were identified at both ends of the four chromosomes. A total of 21,450 genes were annotated. …”
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A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels by Kousar Jahan Syeeda Khursheed, Mohammed Rahman Kaleemullah, Annu Joseph, Mohammed Hasan Al Durazi, Moiz Bakhiet

“…Structural chromosomal aberrations like translocations have been shown to cause spermatogenic failure. …”
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Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature by Yimo Zeng, Rong Hu, Jian Lu, Yiming Qi, Dan Chen, Chaoxiang Yang, Jing Wu

“…All these patients underwent chromosomal microarray and/or karyotyping, and 37 cases also underwent whole exome sequencing (WES). …”
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A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia by Luna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman

“…There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities. Current genetic testing can clinch an exact diagnosis in 20–25% of such cases. …”
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Molecular characterization of a rare TP63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-Dlx signaling pathway by Jianlong Zhuang, Yanqing Li, Yu’e Chen, Hegan Zhang, Shufen Liu, Manman Hu, Chunnuan Chen

“…Karyotype analysis and chromosomal microarray analysis (CMA) were conducted to identify chromosomal abnormalities. …”
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Studies of biological properties of continuous suspension ВНК-21/SUSP/ARRIAH cell line by M. I. Doronin, M. N. Guseva, D. V. Mikhalishin, A. S. Sharypov, N. S. Mudrak, N. Ye. Kamalova, B. L. Manin

“…When cultured in suspension, BHK-21/SUSP/ARRIAH cell subline undergoes selection towards hypoploidy: modal class is represented by cells with 41 chromosomes (32–40% of cells); the share of cells containing 40–42 chromosomes is 78–80%; the share of polyploids averages around 1%; the range of variation in the number of chromosomes is from 36 to 54. …”
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Short Telomere Length in Plasma of Sudanese Patients with Hepatocellular Carcinoma and Chronic Liver Diseases by Fayza A. Rahamtalla, Iman M. Shammat, Salma B. M. Mudawi, Maram Abbas, Mohammed A. H. Kheir Elsid, Mohammed S. M. Abdalla

“… Background: Telomeres, a protective sequence of DNA at the end of chromosomes, are essential for the maintenance of chromosomal integrity and stability. …”
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Karyotype Analysis and Genome Size Estimation Using Flow Cytometry of the Genus <i>Encyclia</i> Hook. (Orchidaceae: Laeliinae) by Chengcheng Zhou, Qingyun Leng, Jinping Lu, Shisong Xu, Donghui Peng, Junmei Yin, Junhai Niu

“…In this study, karyotype analysis shows that the number of chromosomes in diploid plants of <i>Encyclia</i> is 40, with all species exhibiting mesial and central filamentous chromosomes. …”
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Comprehensive Analysis of β-1,3-Glucanase Genes in Wolfberry and Their Implications in Pollen Development by Xin Zhang, Pinjie Zheng, Xurui Wen, Zhanlin Bei

“…This study provides a comprehensive analysis of the β-1,3-glucanase gene family in wolfberry (<i>Lycium barbarum</i>), including their chromosomal distribution, evolutionary relationships, and expression profiles. …”
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Erratic Male Meiosis Resulting in 2n Pollen Grain Formation in a 4x Cytotype (2n=28) of Ranunculus laetus Wall. ex Royle by Puneet Kumar, Vijay Kumar Singhal

“…Univalent chromosomes failed to segregate during anaphases and produced restitution nuclei at meiosis I and II. …”
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Mechanisms by which Human Cells Bypass Damaged Bases during DNA Replication after Ultraviolet Irradiation by James E. Cleaver

“…Foci containing PCNA, Mre11/Rad50/Nbs1, and gamma-H2Ax can then be detected, along with chromosomal rearrangement and high frequencies of sister chromatid exchanges. …”
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Assessment of Cytotoxicity and Genotoxicity Potential of Effluents from Bahir Dar Tannery Using Allium cepa by Tayachew Admas, Bizuayehu Kerisew

“…The results showed that cytotoxicity, genotoxicity, and chromosomal aberrations were induced by the tannery effluent. …”
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Exploring the maternal inheritance transmitted by the oocyte to its progeny by Verlhac, Marie-Hélène

“…This is what can be defined as the maternal inheritance composed of chromosomes, organelles, lipids, metabolites, proteins and RNAs. …”
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Cilostazol protective effect on nedaplatin-induced genotoxicity in cultured human lymphocytes by Karem H. Alzoubi, Abeer M. Rababa’h, Omar F. Khabour, Fian Nuseir

“…Results: Nedaplatin significantly increased the frequency of SCEs compared to control and cilostazol-treated cells. The chromosomal injury induced by nedaplatin was significantly reduced by pretreatment of cells with cilostazol (P < 0.0001). …”
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The master male sex determinant Gdf6Y of the turquoise killifish arose through allelic neofunctionalization by Annekatrin Richter, Hanna Mörl, Maria Thielemann, Markus Kleemann, Raphael Geißen, Robert Schwarz, Carolin Albertz, Philipp Koch, Andreas Petzold, Torsten Kroll, Marco Groth, Nils Hartmann, Amaury Herpin, Christoph Englert

“…Here, we demonstrate that the Y-chromosomal copy of the TGF-β family member gdf6 (gdf6Y) in Nothobranchius furzeri, an emerging model organism in aging research, gained the function of the male sex determinant through allelic diversification while retaining the skeletal developmental function shared with the X-chromosomal gdf6 allele (gdf6X). …”
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Heritability Estimated Using 50K SNPs Indicates Missing Heritability Problem in Holstein Breeding by Donghyun Shin, Kyoung-Do Park, Sojoeng Ka, Heebal Kim, Kwang-hyeon Cho

“…Longer genomic regions tended to provide more phenotypic variation information, with a correlation of 0.46~0.53 between the estimate of variance explained by individual chromosomes and their physical length. These results suggested that polygenicity was ubiquitous for Holstein milk production traits. …”
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