The Use of Fluorescence In situ Hybridisation in the Diagnosis of Hidden Mosaicism in Egyptian Patients with Turner Syndrome by Heba Mohamed Ossama, Soha Kholeif, Ghada Mohamed Elhady

“…Background: Turner syndrome (TS) is the most common chromosomal abnormality in females. The diagnosis of TS is based on karyotyping of 30 blood lymphocytes. …”
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VEIKIANTIS GENOMAS - VISUMINIS POŽYMIS: DABARTIES ŽVILGSNIS Į GENETIKĄ by Jonas Rubikas

“…The five methodological levels of investigation could be distinguished during the course of genetics development: the organism - feature; the cell - feature; the chromosome - feature; DNA molecule - feature; nucleotide sequence - function. …”
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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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Anomalous Coronary Artery Origin in a Young Patient with Marfan Syndrome by S. B. C. P. Duarte, D. O. Beraldo, L. A. M. Cesar, A. P. Mansur, J. Y. Takada

“…Marfan syndrome is an autosomal dominant genetic disorder that affects connective tissue and is caused by mutations in the fibrillin 1 gene present at chromosome 15. Aortic aneurysm is its main complication, and along the dilation of the aorta root and its descending portion (60–100%), with secondary aortic insufficiency, it increases risk of acute aortic dissection and death. …”
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Genetic Contribution of Ningmai 9 Wheat to Its Derivatives Evaluated by Using SNP Markers by Peng Jiang, Ping-Ping Zhang, Xu Zhang, Hong-Xiang Ma

“…There was a great difference for the same allele ratio in either derivatives or chromosomes, though the average values of the same allele ratio in genomes A, B, and D were close to each other. …”
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Prediction of the Sex-Associated Genomic Region in Tunas (Thunnus Fishes) by Yoji Nakamura, Kentaro Higuchi, Kazunori Kumon, Motoshige Yasuike, Toshinori Takashi, Koichiro Gen, Atushi Fujiwara

“…Tunas (genus Thunnus) have an XY genetic sex determination system. However, the Y chromosome or responsible locus has not yet been identified in males. …”
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Periodic Distribution of a Putative Nucleosome Positioning Motif in Human, Nonhuman Primates, and Archaea: Mutual Information Analysis by Daniela Sosa, Pedro Miramontes, Wentian Li, Víctor Mireles, Juan R. Bobadilla, Marco V. José

“…The overall MIF profiles for each chromosome in each primate species also follow a similar pattern. …”
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Correlation Between Sagittal and Transverse Plane Fetal Nuchal Translucency Measurement by Pananya Jomphansa, Suthasinee Metaneedol, Sinart Prommas, Buppa Smanchat, Kornkarn Bhamarapravatana, Komsun Suwannarurk

“…Subjects were singleton pregnant women who underwent fetal chromosome anomaly screening by NT measurement of both sagittal and transverse planes by transabdominal ultrasonography between 11 and 14 weeks of gestational age (GA). …”
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Ischemia Elicits a Coordinated Expression of Pro-Survival Proteins in Mouse Myocardium by Deborah Lyn, Shaojia Bao, Nicole A. Bennett, Xiaowei Liu, Nerimiah L. Emmett

“…Alterations of pro-survival proteins such as the inhibitor of apoptosis protein on chromosome X (xIAP) and the apoptotic repressor protein (ARC) have not been evaluated in a murine model of cardiac ischemia. …”
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Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy by Yolanda Fernández-Perea, Lutgardo García-Díaz, Javier Sánchez, Guillermo Antiñolo, Salud Borrego

“…We report the case of a fetus with isolated CDH diagnosed at 21 weeks of gestation by ultrasound and confirmed by RMI, whose genetic analysis of amniotic fluid cells identified a de novo partial trisomy of the long arm of chromosome 11. Different genetic causes have been associated with CDH. …”
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EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53 by Agata M. Bogusz

“…Fluorescence in situ hybridization studies (FISH) were negative for cMYC, BCL2, and BCL6 rearrangements but showed deletion of TP53 and monosomy of chromosome 17. Next-generation sequencing studies (NGS) revealed numerous genetic alterations including 6 pathogenic mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53(x2) genes and 30 variants of unknown significance (VOUS) in ABL1, ASXL1, ATM, BCOR, BCORL1, BRNIP3, CDH2, CDKN2A, DNMT3A, ETV6, EZH2, FBXW7, KIT, NF1, RUNX1, SETPB1, SF1, SMC1A, STAG2, TET2, TP53, and U2AF2.…”
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GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation by Gulden Diniz, Yaprak Secil, Serdar Ceylaner, Figen Tokucoglu, Sabiha Türe, Mehmet Celebisoy, Tülay Kurt İncesu, Galip Akhan

“…Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age. …”
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Pan-cancer analysis and single-cell analysis identifies the CENPN as a biomarker for survival prognosis and immunotherapy by Nie Zhang, Zhuoying He, Xuejin Qin, Ke Han, Zhengchun Zhu, Fei Zhong

“…Abstract Background Centromere protein N (CENPN), located on chromosome 16q23.2, encodes vital nucleosome-associated complexes that are essential for dynamic assembly processes. …”
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Sex Differences Associated with Primary Biliary Cirrhosis by Daniel S. Smyk, Eirini I. Rigopoulou, Albert Pares, Charalambos Billinis, Andrew K. Burroughs, Luigi Muratori, Pietro Invernizzi, Dimitrios P. Bogdanos

“…There does not appear to be any histological, serological, or biochemical differences between male and female PBC, although the symptomatology may differ, with males being at higher risk of life-threatening complications such as gastrointestinal bleeding and hepatoma. Studies on X chromosome and sex hormones are of interest when studying the low preponderance of PBC in males; however, these studies are far from conclusive. …”
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Chemotaxonomic studies on <i>Schwenckia americana</i> LINN by C Wahua, SM Sam

“…The cytological studies showed a diploid chromosome number of 2n = 24 and n = 12 for the haploids. …”
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CENP-A/CENP-B uncoupling in the evolutionary reshuffling of centromeres in equids by Eleonora Cappelletti, Francesca M. Piras, Marialaura Biundo, Elena Raimondi, Solomon G. Nergadze, Elena Giulotto

“…In the few mammalian species analyzed so far, the CENP-B box is contained in the major satellite repeat that is present at all centromeres, with the exception of the Y chromosome. We previously demonstrated that, in the genus Equus, numerous centromeres lack any satellite repeat. …”
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Cardiac Tamponade: A Rare Manifestation of Familial Mediterranean Fever by Abdolreza Malek, Tina Zeraati, Ariane Sadr-Nabavi, Niloofar Vakili, Mohammad Reza Abbaszadegan

“…The patients typically have biallelic mutations in the MEFV gene, located on chromosome 16. Colchicine is the first-line treatment of FMF, which not only plays a crucial prophylactic role regarding the attack episodes, but also prevents amyloidosis. …”
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Unveiling genetic basis of seedling emergence from deep soil depth under dry direct- seeded conditions in rice (Oryza sativa L.) by Vagish Mishra, Vagish Mishra, Shilpi Dixit, Shilpi Dixit, Swati Tyagi, Swati Tyagi, Challa Venkateswarlu, Challa Venkateswarlu, Pronob J. Paul, Pronob J. Paul, Anoop Kishor Singh Gurjar, Anoop Kishor Singh Gurjar, Shalabh Dixit, Nitika Sandhu, Smita Kurup, Arvind Kumar, Arvind Kumar, Pallavi Sinha, Pallavi Sinha, Vikas Kumar Singh, Vikas Kumar Singh, Uma Maheshwar Singh, Uma Maheshwar Singh

“…The study pinpointed three QTL hotspot regions: one on chromosome 1 (qPG1, qCL1) and two on chromosome 2 (qPG2.1, qML2.2, qCL2.1) and (qPG2.2, qCL2.2). …”
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