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901
Histone Deacetylases Inhibitors in the Treatment of Retinal Degenerative Diseases: Overview and Perspectives
Published 2015-01-01“…Histone acetylation and deacetylation can regulate chromosome assembly, gene transcription, and posttranslational modification, which are regulated by histone acetyltransferases (HATs) and histone deacetylases (HDACs), respectively. …”
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902
Remarkable response to low dose of selpercatinib in a patient with RET-rearranged non-small cell lung cancer
Published 2025-01-01“…Chromosomal rearrangements of the RET (rearranged during transfection) gene are detected in approximately 1–2% of non-small cell lung cancers (NSCLC) and have function as oncogenic driver genes. …”
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903
Computational protocol for analyzing whole-genome sequencing data from Staphylococcus aureus clinical isolates
Published 2025-03-01“…We describe steps for de novo assembly, functional annotation, and genetic characterization of chromosomal and extrachromosomal elements. This approach paves the way for an improved understanding of the interplay between virulence factors, resistome, strain type, and disease severity.For complete details on the use and execution of this protocol, please refer to Sánchez-Osuna et al.1 : Publisher’s note: Undertaking any experimental protocol requires adherence to local institutional guidelines for laboratory safety and ethics.…”
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904
A Case of Clitoral Hypertrophy of Unknown Origin
Published 2018-01-01“…Various tests were performed. Sex chromosome or hormonal abnormalities and tumorous lesions were not detected, and the ovaries, uterus, and vagina were normal, indicating that disorders of mullerian development were negative. …”
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905
A Novel del(20q) in Aggressive Nodal Marginal Zone Lymphoma
Published 2013-01-01“…This is a case report of a previously undescribed 20q chromosomal deletion (del(20q)) in marginal zone lymphoma (MZL). …”
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906
Synaptic Plasticity, a Prominent Contributor to the Anxiety in Fragile X Syndrome
Published 2016-01-01“…Fragile X syndrome (FXS) is an inheritable neuropsychological disease caused by expansion of the CGG trinucleotide repeat affecting the fmr1 gene on X chromosome, resulting in silence of the fmr1 gene and failed expression of FMRP. …”
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907
Draft genome sequence of a co-harbouring blaNDM-5 and mcr-1.1 Escherichia coli phylogroup A isolate associated with patient colonisation in Ireland
Published 2025-01-01“…Resistance to beta-lactams, including carbapenems and cephalosporins was likely due to chromosomally identified blaNDM-5. Colistin resistance appeared associated with acquired mcr-1.1. …”
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908
Development of SacB-based counterselection for efficient allelic exchange in Fusobacterium nucleatum
Published 2025-01-01“…Post-counterselection with 5% sucrose, chromosomal plasmid loss occurred in all colonies, leading to gene alternations in half of the screened isolates. …”
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909
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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910
Multi-ancestry genome-wide association analyses: a comparison of meta- and mega-analyses in the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study
Published 2025-01-01“…Associations in this same region were identified using the mega-analysis pipeline, along with a well-documented association at MTNR1B on chromosome 11 with both fasting and 1-hr maternal glucose. …”
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911
Malignant Peripheral Nerve Sheath Tumor: MRI and CT Findings
Published 2015-01-01“…The diagnosis of MPNST is extremely difficult due to the lack of (1) conclusive immunohistochemistry or unique chromosomal anomaly, (2) universal distinctive histopathology, and (3) clinical criteria. …”
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912
Chimeric RNA in Cancer and Stem Cell Differentiation
Published 2018-01-01“…Gene fusions are considered hallmarks of cancer which can be produced by chromosomal rearrangements. These DNA-level fusion events may result in the expression of chimeric RNAs; however, chimeric RNAs can be also produced by intergenic splicing events. …”
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913
PPAR𝛾, PTEN, and the Fight against Cancer
Published 2008-01-01“…Recent in vitro studies have shown that PPAR𝛾 can regulate the transcription of phosphatase and tensin homolog on chromosome ten (PTEN), a known tumor suppressor. PTEN is a susceptibility gene for a number of disorders, including breast and thyroid cancer. …”
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914
Spatial Positioning of RET and H4 Following Radiation Exposure Leads to Tumor Development
Published 2001-01-01“…A high prevalence of chromosomal rearrangements involving the RET gene was found among these radiation-induced thyroid tumors [2,3]. …”
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915
A discussion of anesthesiologically relevant aspects of Klinefelter syndrome -a case report-
Published 2025-02-01“…Background Klinefelter syndrome (KS), usually the 47,XXY karyotype, is the most common sex chromosome anomaly in males. However, many cases remain undiagnosed because the clinical presentation is highly variable and physicians are not sufficiently trained to assess for this condition. …”
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916
Multiobjective Multidepot Capacitated Arc Routing Optimization Based on Hybrid Algorithm
Published 2022-01-01“…After completing the system clustering, the Dijkstra algorithm is used to adjust the boundary arc locally and merge it to a reasonable depot, while in the genetic algorithm, the structure of the chromosome is reset to use the path as the way of real coding, and the elite selection is used to decode to obtain the optimal path optimization scheme. …”
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917
Murine Leukemia Viruses: Objects and Organisms
Published 2011-01-01“…These are the Gag polyprotein, which is the structural protein of a retrovirus particle, the Pol protein, comprising the three retroviral enzymes—protease, which catalyzes the maturation of the particle, reverse transcriptase, which copies the viral RNA into DNA upon infection of a new host cell, and integrase, which inserts the DNA into the chromosomal DNA of the host cell, and the Env polyprotein, which induces the fusion of the viral membrane with that of the new host cell, initiating infection. …”
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918
Primary Synovial Sarcoma of the Scrotum
Published 2023-01-01“…The cytogenetic testing showed a chromosomal translocation in the SS18 gene at 18q11.2, consistent with the diagnosis of primary synovial sarcoma. …”
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919
Protocol for genetic analysis of population-scale ultra-low-depth sequencing data
Published 2025-03-01“…Summary: Non-invasive prenatal testing (NIPT) not only enables the detection of chromosomal anomalies in fetuses but also generates vast amounts of ultra-low-depth sequencing data, which can be leveraged for population genomic studies. …”
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920
A Case Report of a Patient with Turner Syndrome, Multiple Comorbidities, and Pustular Psoriasis: Correlation or Coincidence?
Published 2020-01-01“…Turner syndrome (TS) is one of the most common chromosomal abnormalities. Patients with TS are at an increased risk for the development of metabolic syndrome, hypertension (HTN), diabetes mellitus type II (DM2), hyperlipidemia (HLD), obesity, and cardiovascular disease. …”
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