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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The concept of natural genome reconstruction. Part 1. Basic provisions of the “natural genome reconstruction” concept. Changing the genome of hematopoietic stem cells using several... by L. A. Yakubov, O. S. Taranov, S. V. Sidorov, S. D. Nikonov, A. A. Ostanin, E. R. Chernykh, N. A. Kolchanov, S. S. Bogachev

“…It is assumed that as a result of stochastic acts of homologous exchange, chromosome loci are corrected in hematopoietic stem cells that have acquired mutations during the existence of the organism, which are the cause of clonal hematopoiesis associated with old age. …”
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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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Williams Syndrome with a “Twist” by Despoina Maritsi, Lydia Kossiva, George Vartzelis

“…Williams syndrome is a rare genetic condition with multisystemic involvement, caused by a microscopic deletion in the chromosome band 7q11.23. We describe the first case of a toddler with Williams syndrome who developed Benign Paroxysmal Torticollis (BPT), a benign dystonic disorder of unknown aetiology.…”
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The Genetic Landscape of Human Glioblastoma and Matched Primary Cancer Stem Cells Reveals Intratumour Similarity and Intertumour Heterogeneity by Chiara Pesenti, Stefania Elena Navone, Laura Guarnaccia, Andrea Terrasi, Jole Costanza, Rosamaria Silipigni, Silvana Guarneri, Nicola Fusco, Laura Fontana, Marco Locatelli, Paolo Rampini, Rolando Campanella, Silvia Tabano, Monica Miozzo, Giovanni Marfia

“…We identified, in both GBM and matched GSCs, recurrent copy number alterations, as chromosome 7 polysomy, chromosome 10 monosomy, and chromosome 9p21deletions, which are typical features of primary GBM, essential for gliomagenesis. …”
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ANDROGENESIS ABILITY IN COMMON WHEAT EUPLASMIC LINES AND ALLOPLASMIC RECOMBINANT LINES (H. VULGARE)-T. AESTIVUM POSSESSING 1RS.1BL AND 7DL-7AI TRANSLOCATIONS AND PRODUCTION OF DOUB... by T. S. Osadchaya, L. A. Pershina, N. V. Trubacheeva, I. A. Belan, L. P. Rosseeva, E. P. Devyatkina

“…The inducing reciprocal influence of barley cytoplasm and rye chromosome 1RS on the androgenesis ability of lines (H. vulgare)-T. aestivum with 1RS.1BL and 7DL-7Ai translocations is discussed. …”
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Imatinib Mesylate Effectiveness in Chronic Myeloid Leukemia with Additional Cytogenetic Abnormalities at Diagnosis among Black Africans by Tolo Diebkilé Aïssata, Duni Sawadogo, Clotaire Nanho, Boidy Kouakou, N'dogomo Meité, N'Dhatz Emeuraude, Ayémou Roméo, Sekongo Yassongui Mamadou, Paul Kouéhion, Konan Mozart, Gustave Koffi, Ibrahima Sanogo

“…There were variants of the Philadelphia chromosome (18.5%), trisomy 8 (14.8%), complex cytogenetic abnormalities (18.5%), second Philadelphia chromosome (14.8%), and minor cytogenetic abnormalities (44.4%). …”
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Efficiency to Discovery Transgenic Loci in GM Rice Using Next Generation Sequencing Whole Genome Re-sequencing by Doori Park, Dongin Kim, Green Jang, Jongsung Lim, Yun-Ji Shin, Jina Kim, Mi-Seong Seo, Su-Hyun Park, Ju-Kon Kim, Tae-Ho Kwon, Ik-Young Choi

“…The EGF transgenic site was confirmed only on chromosome 4 by PCR. Results of this study demonstrated the success of NGS data to characterize the rice genome. …”
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Movements of the Glandirana Frogs in Japan and South Korea: A Strategy for Defining Geographical Movements of Amphibians by Akira Oike, Koji Tojo, Yoriko Nakamura, Etsuro Ito, Masahisa Nakamura

“…To address the issue, we selected Glandirana rugosa as a representative of Japanese amphibians because this frog is the only species among amphibians in which nucleotide sequences of the mitochondrial genes and sex chromosome evolution have been deeply investigated. …”
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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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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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An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms by Ivan Y. Iourov, Svetlana G. Vorsanova, Oxana S. Kurinnaia, Yuri B. Yurov

“…We report a case of an interstitial chromosome 20q11.21 microdeletion in a 7-year-old male child presenting with mild intellectual disability and facial dysmorphisms. …”
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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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FOX DOMESTICATION: MOLECULAR MECHANISMS INVOLVED IN SELECTION FOR BEHAVIOR by L. N. Trut, Yu. E. Herbeck, A. V. Kharlamova, R. G. Gulevich, A. V. Kukekova

“…The most important result is that the region most closely associated with tame behavior was identified on fox chromosome 12 by QTL interval mapping. The result is the more so significant that the region is similar to the region on canine chromosome 5 presumed to be responsible for early domestication of wolves and their evolutionary transformation to primitive dogs.…”
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Myelodysplasia and Mast Cell Leukemia with t(9;22) by Kathryn J. Lago, Matthew P. Shupe, William N. Hannah, Gopalrao V. N. Velagaleti, Christina Mendiola, Veronica Ortega, Brian R. Haney

“…Furthermore, there is no consistent chromosomal abnormality identified in MCL. This is the first reported case of MCL with a (9;22) translocation. …”
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The widely used Ucp1-Cre transgene elicits complex developmental and metabolic phenotypes by Manasi Suchit Halurkar, Oto Inoue, Archana Singh, Rajib Mukherjee, Meghana Ginugu, Christopher Ahn, Christian Louis Bonatto Paese, Molly Duszynski, Samantha A. Brugmann, Hee-Woong Lim, Joan Sanchez-Gurmaches

“…Abstract Bacterial artificial chromosome transgenic models, including most Cre-recombinases, enable potent interrogation of gene function in vivo but require rigorous validation as limitations emerge. …”
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Genetic parameters and parental and early-life effects of boar semen traits by Pedro Sá, Rodrigo M. Godinho, Marta Gòdia, Claudia A. Sevillano, Barbara Harlizius, Ole Madsen, Henk Bovenhuis

“…Mitochondrial DNA and Y chromosome inheritances showed no effect on semen traits. …”
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CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency by Yujiro Yoshizaki, Yunosuke Ouchi, Dicky Kurniawan, Eisuke Yumoto, Yuki Yoneyama, Faiza Ramadhani Rizqullah, Hiyori Sato, Mirjam Hanako Sarholz, Toyoaki Natsume, Masato T. Kanemaki, Masanori Ikeda, Ayako Ui, Kenji Iemura, Kozo Tanaka

“…Abstract CHAMP1 (chromosome alignment-maintaining phosphoprotein 1) plays a role in the repair of DNA double-strand breaks (DSBs) by homologous recombination (HR). …”
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