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1241
An Unusually Short Latent Period of Therapy-Related Myeloid Neoplasm Harboring a Rare MLL-EP300 Rearrangement: Case Report and Literature Review
Published 2019-01-01“…Bone marrow examinations revealed chronic myelomonocytic leukemia-like disease with a chromosomal translocation of t(11;22)(q23;q13) as a solo cytogenetic abnormality, resulting in the diagnosis of t-MN. …”
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1242
Genomic Amplification of an Endogenous Retrovirus in Zebrafish T-Cell Malignancies
Published 2012-01-01“…Somatically acquired mutations can disable some genes and inappropriately activate others. In addition, chromosomal rearrangements can amplify, delete, or even fuse genes, altering their functions and contributing to malignant phenotypes. …”
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1243
Silica-exposed patients with silicosis show shorter telomeres than do unexposed individuals: a pilot study in a population in southeastern Brazil
Published 2025-01-01“…This oxidative stress affects telomeres, which are short tandem DNA repeats that cap the end of linear chromosomes. We aimed to determine whether telomere length (TL) correlates with silicosis or severity of silicosis in silica-exposed workers in Brazil. …”
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1244
The study of the regulatory region of the Drosophila melanogaster Notch gene by new methods of directed genome editing
Published 2019-03-01“…The regulatory zone of the Notch gene is in the region of open chromatin state that corresponds to the 3C6/3C7 interband on the cytological map of polytene chromosomes of D. melanogaster salivary glands. The development of new methods for directed genome editing made it possible to create a system for introducing directed changes into the regulatory zone of the gene. …”
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1245
Whole-Genome Duplication and Purifying Selection Contributes to the Functional Redundancy of Auxin Response Factor (ARF) Genes in Foxtail Millet (Setaria italica L.)
Published 2021-01-01“…Twenty-four SiARF genes were identified and unevenly distributed on eight of the nine chromosomes in S. italica. Duplication mode exploration implied that 13 SiARF proteins were originated from whole-genome duplication and suffered purifying selection. …”
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1246
Optically Transparent Anionic Nanofibrillar Cellulose Is Cytocompatible with Human Adipose Tissue-Derived Stem Cells and Allows Simple Imaging in 3D
Published 2019-01-01“…However, 2D cultivation of MSCs for extended periods results in abnormal cell polarity, chromosomal changes, reduction in viability, and altered differentiation potential. …”
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1247
Elucidation of peptide screen for targeted identification of Yersinia pestis by nano-liquid chromatography tandem mass spectrometry
Published 2025-01-01“…Additionally, 148 peptides were discovered from proteins of Y. pestis-specific plasmids and chromosomal-associated virulence markers. To validate this screen of 209 peptides, various concentrations of Y. pestis (ranging from 1.3 × 108 to 1.3 × 105 cfu) were spiked into garden soil. …”
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1248
SPC25 upregulates CCND1 to promote the progression of esophageal squamous cell carcinoma by inhibiting MDM2-mediated E2F1 ubiquitination
Published 2025-03-01“…Spindle component 25 (SPC25) can ensure the fidelity of mitotic progression and the accurate segregation of chromosomes, thus plays an important role in the development of malignant tumors, but its role in ESCC is yet to be determined. …”
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1249
Characterization and Comparative Analysis of RWP-RK Proteins from Arachis duranensis, Arachis ipaensis, and Arachis hypogaea
Published 2020-01-01“…The RWP-RK proteins were classified into two groups, RWP-RK domain proteins and NODULE-INCEPTION-like proteins. Chromosomal distributions, gene structures, and conserved motifs of RWP-RK genes were compared among wild and cultivated peanuts. …”
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1250
Perinatal Outcome of Fetal Echogenic Bowel: A Single-Center Retrospective Cohort Study
Published 2021-04-01“…Trisomy 21 was the most common aneuploidy and identified in 4 (4%) cases. Other chromosomal disorders were tetrasomy 12p (1%), 69XXX (1%) and 46 XX, t (2,22) (9q9) (1%). …”
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1251
Association of CYP11A1 Polymorphisms with Recurrent Pregnancy Loss in the Female Population of Punjab
Published 2023-07-01“…The aetiologies of RPL include uterine anatomic anomalies, uncontrolled diabetes mellitus, untreated hypothyroidism, parental chromosomal abnormalities, antiphospholipid antibody syndrome, thrombophilia, genetic abnormalities and infections. …”
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1252
Higher Risk Myelodysplastic Syndromes in Patients with Well-Controlled HIV Infection: Clinical Features, Treatment, and Outcome
Published 2016-01-01“…All had deletions involving chromosomes 5 and 7. MDS treatment of 2 was not reported and one received palliation; all died of AML. …”
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1253
Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports
Published 2016-01-01“…CHD7 gene mutation is identified in approximately two-thirds of patients with CHARGE syndrome, and chromosomal microdeletion at 22q11.2 is found in more than 95% of patients with 22q11.2 deletion syndrome. …”
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1254
A paradoxical population structure of var DBLα types in Africa.
Published 2025-02-01“…Var with these ups groups have different chromosomal locations, transcriptional directions, and associations with disease severity. …”
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1255
Transgenic plants as a model for studying еpigenetic regulation of gene expression
Published 2015-12-01“…The study of this phenomenon revealed dependence of the frequency of gene silencing on the number of integrated copies in the plant genome, the properties of the transgene sequence itself (the presence of duplications, vector sequences, and others), chromosomal position. Loss of gene expression can occur transcriptionally or post-transcriptionally in most cases involving small interfering RNA (siRNA). …”
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1256
Non-invasive prenatal testing in mitigating concerns from invasive prenatal diagnostic testing: retrospective assessment of utility in an academic healthcare system in the US
Published 2022-06-01“…Objective Non-invasive prenatal testing (NIPT) is a front-line screening for fatal chromosomal aneuploidy. In pregnant women with a risk of having fetal congenital disorders, NIPT is anticipated to reduce the needs of invasive prenatal diagnostic test (IPD). …”
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1257
The necessity of cell banks
Published 2017-02-01“…It is possible to turn off any gene or genes as well as to insert a genetic construct into a selected genomic region to temporarily turn on and off genes and remove chromosomal regions. Cell banks that are open to general use are necessary for efficient usage of iPSCs in biomedical research. …”
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1258
Characterization of Chromatin Structure-associated Histone Modifications in Breast Cancer Cells
Published 2012-09-01“…To understand the relationship between histone modifications and regulatory elements in breast cancer cells, we compared our chromatin immunoprecipitation sequencing (ChIP-Seq) histone modification patterns for histone H3K4me1, H3K4me3, H3K9/16ac, and H3K27me3 in MCF-7 cells with publicly available formaldehyde-assisted isolation of regulatory elements (FAIRE)-chip signals in human chromosomes 8, 11, and 12, identified by a method called FAIRE. …”
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1259
Unusual Presentation with Orbital Mass in a Child with Precursor B-Cell Acute Lymphoblastic Leukemia
Published 2019-01-01“…The cytogenetic study showed 46,XX chromosomes. After 4 weeks of induction chemotherapy for very high-risk ALL, although the bone marrow was in remission, the proptosis was partially resolved. …”
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1260
Unveiling the prenatal features of HADDS: A case report and literature review
Published 2025-01-01“…HADDS was diagnosed by Whole Exome Sequencing on a family trio (Trio-WES) for recurrent urinary tract infection with dysuria at 6 months of age, with a normal karyotype and chromosomal microarray analysis (CMA). The variant is a de novo shifted code mutation, which expands the pathogenic gene spectrum of EBF3. …”
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