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501
Negative heterosis for meiotic recombination rate in spermatocytes of the domestic chicken Gallus gallus
Published 2021-10-01“…Recombination is necessary for chromosome synapsis and segregation. However, it involves a massive generation of double-strand DNA breaks, erroneous repair of which may lead to germ cell death or various mutations and chromosome rearrangements. …”
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502
Parent-of-origin effects on nuclear chromatin organization and behavior in a Drosophila model for Williams–Beuren Syndrome
Published 2021-09-01“…As is shown in this study, the polytene X chromosome bands in reciprocal hybrids between agnts3 and the wild type strain Berlin are heterogeneous in modes of FEC regulation depending either on maternal or paternal gene origin. …”
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503
The Construction of Heterothallic Strains of <i>Komagataella kurtzmanii</i> Using the I-SceI Meganuclease
Published 2025-01-01“…Analysis of the genomes of the final strains, however, revealed a fusion of chromosome 3 and chromosome 4 in strain Y-727-2(alpha)-1. …”
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504
Chromatin environment-dependent effects of DOT1L on gene expression in male germ cells
Published 2025-01-01“…On the other hand, it activates the expression of genes enriched in H3K79me2 and located in H3K27me3-poor/H3K27ac-rich environments, predominantly X chromosome-linked genes, after meiosis I. This coincides with a significant increase in DOT1L expression at this stage and a genome-wide acquisition of H3K79me2, particularly on the sex chromosomes. …”
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505
Alleviatory efficacy of achillea millefolium L. in etoxazole-mediated toxicity in allium cepa L
Published 2024-12-01“…The most frequently observed chromosomal aberrations induced by etoxazole, which serve as bioindicators of genotoxicity, were fragment, vagrant chromosome, sticky chromosome, unequal chromatin distribution, bridge, reverse polarization, and vacuolated nucleus. …”
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506
Polymorphism of the <i> FaOMT </i> and <i> FaFADl </i> genes for fruit flavor volatiles in strawberry varieties and wild species from the genetic collection of the Michurin Federal...
Published 2020-03-01“…The mesifurane content in strawberry fruit is controlled by the FaOMT gene, which is mapped to the distal region of the long arm of chromosome VII-F.1. The y-decalactone content in strawberry fruit is controlled by the FaFADl gene, mapped to the distal region of the long arm of chromosome III-2. …”
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507
A Fuzzy Genetic Algorithm Based on Binary Encoding for Solving Multidimensional Knapsack Problems
Published 2012-01-01“…Firstly, a sexual selection mechanism which utilizes the mate chromosome during selection is used. The second technique focuses on controlling the genetic parameters by applying the fuzzy logic controller. …”
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508
A Newborn with Panhypopituitarism and Seizures
Published 2017-01-01“…Interstitial deletions on the short arm of chromosome 20 are uncommon, and therefore the clinical phenotype is poorly defined. …”
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509
Gorlin-Goltz Syndrome
Published 2012-01-01“…The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome—NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. …”
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510
Anaesthetic management of a child with Wolf–Hirschhorn syndrome
Published 2024-12-01“…Wolf–Hirschhorn syndrome (WHS) is a malformation syndrome that is characterised by a partial deletion of the short arm of chromosome 4 and is known to occur in about one per 50,000 births. …”
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511
Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX
Published 2024-08-01“…Abstract Tetrasomy X or 48,XXXX is a rare sex chromosome aneuploidy. The parental origin of tetrasomy X in a female patient with developmental delay was analyzed; all four X chromosomes were derived from the mother, and there were no paternally derived sex chromosomes. …”
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512
Prenatal Diagnosis of the Duchenne Muscular Dystrophy. A Family Presentation
Published 2007-05-01“…The responsible gene of the disease is known as DMD and it is located in the X chromosome shorter arm. A family history is presented in which the pregnant woman who is the sick patient’s sister asks for a prenatal diagnosis. …”
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513
Fuzzy Logic Controller Based on Genetic Algorithm for Electric Drive of Crane Trolley
Published 2009-04-01“…Using a specific structure of a chromosome, a special mutation operation and an adequate fitness function the proposed methodology makes it possible to select a fuzzy rule base, to minimize a number of rules, rationally to place input sets of fuzzy functions and corresponding arrangement of output singletons in the form of single-element sets. …”
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514
Identification of alterations in the nucleotide sequence of the chromatin remodeling gene PBRM1 in clear cell renal cell carcinoma patients
Published 2018-11-01“…The PBRM1 gene is located on the short arm of the third chromosome in the 3p21 region near the von Hippel-Lindau gene (VHL), the mutation in which is the main event in the occurrence of ccRCC. …”
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515
Comparative Genomic In Situ Hybridization and the Possible Role of Retroelements in the Karyotypic Evolution of Three Akodontini Species
Published 2017-01-01“…South American Akodontini rodents are characterized by a large number of chromosome rearrangements. Among them, the genus Akodon has been extensively analyzed with classical and molecular cytogenetics, which allowed the identification of a large number of intra- and interspecific chromosomal variation due to Robertsonian rearrangements, pericentric inversions, and heterochromatin additions/deletions. …”
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516
Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy
Published 2010-01-01“…FISH using a 4p/4q subtelomere DNA probe assay confirmed the deletion of qter subtelomere on chromosome 4. Parental chromosomes were normal. The deleted array was further defined using array CGH. …”
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517
Role of the Notch signaling pathway in porcine oocyte maturation
Published 2025-01-01“…RO treatment during oocyte maturation markedly reduced meiotic maturation and embryogenesis, inhibiting the cell cycle progression, spindle assembly, and chromosome alignment processes that are important for meiotic maturation. …”
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518
Efficient identification of genomic insertions and surrounding regions in two transgenic maize events using third-generation single-molecule nanopore sequencing technology
Published 2024-12-01“…The insertion site for ND4401 was pinpointed in the non-coding region of chromosome 5, and for ND4403, in the non-coding region of chromosome 3. …”
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519
Evaluation of X-Inactivation Status and Cytogenetic Stability of Human Dermal Fibroblasts after Long-Term Culture
Published 2010-01-01“…We conclude that female HDF cultures exhibit a higher risk of genetic anomalies such as carrying an increased number of X chromosomes including both active and inactive X chromosomes at a high passage (≥P10).…”
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520
Imatinib Mesylate Effectiveness in Chronic Myeloid Leukemia with Additional Cytogenetic Abnormalities at Diagnosis among Black Africans
Published 2013-01-01“…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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