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1

Zhou, Jia, Minmin Liu, Aaron M. Fleming, Cynthia J. Burrows, and Susan S. Wallace. "Neil3 and NEIL1 DNA Glycosylases Remove Oxidative Damages from Quadruplex DNA and Exhibit Preferences for Lesions in the Telomeric Sequence Context." Journal of Biological Chemistry 288, no. 38 (2013): 27263–72. http://dx.doi.org/10.1074/jbc.m113.479055.

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The telomeric DNA of vertebrates consists of d(TTAGGG)n tandem repeats, which can form quadruplex DNA structures in vitro and likely in vivo. Despite the fact that the G-rich telomeric DNA is susceptible to oxidation, few biochemical studies of base excision repair in telomeric DNA and quadruplex structures have been done. Here, we show that telomeric DNA containing thymine glycol (Tg), 8-oxo-7,8-dihydroguanine (8-oxoG), guanidinohydantoin (Gh), or spiroiminodihydantoin (Sp) can form quadruplex DNA structures in vitro. We have tested the base excision activities of five mammalian DNA glycosyla
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2

Menegollo, Michela, Robert Bentham, Neill Patani, Robert C. Stein, Mariia Yuneva, and Gyorgy Szabadkai. "Abstract 7559: Multi-state gene cluster switches determining the adaptive mitochondrial and metabolic landscape of breast cancer." Cancer Research 84, no. 6_Supplement (2024): 7559. http://dx.doi.org/10.1158/1538-7445.am2024-7559.

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Abstract Adaptive metabolic switches are proposed to underlie conversions between cellular states during normal development as well as in cancer evolution, where they represent important therapeutic targets. However, the full spectrum, characteristics and regulation of existing metabolic switches are unknown. We propose that metabolic switches can be recognised by locating large alternating gene expression patterns and associate them with specific metabolic states. We developed a method to identify interspersed genesets by massive correlated biclustering (MCbiclust) and to predict their metabo
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3

Ahmad, Hafiz Ishfaq, Gulnaz Afzal, Sehrish Sadia, et al. "Structural and Evolutionary Adaptations of Nei-Like DNA Glycosylases Proteins Involved in Base Excision Repair of Oxidative DNA Damage in Vertebrates." Oxidative Medicine and Cellular Longevity 2022 (April 4, 2022): 1–20. http://dx.doi.org/10.1155/2022/1144387.

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Oxidative stress is a type of stress that damages DNA and can occur from both endogenous and exogenous sources. Damage to DNA caused by oxidative stress can result in base modifications that promote replication errors and the formation of sites of base loss, which pose unique challenges to the preservation of genomic integrity. However, the adaptive evolution of the DNA repair mechanism is poorly understood in vertebrates. This research aimed to explore the evolutionary relationships, physicochemical characteristics, and comparative genomic analysis of the Nei-like glycosylase gene family invo
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4

Cumova, Andrea, Veronika Vymetalkova, Alena Opattova, et al. "Genetic variations in 3′UTRs of SMUG1 and NEIL2 genes modulate breast cancer risk, survival and therapy response." Mutagenesis 36, no. 4 (2021): 269–79. http://dx.doi.org/10.1093/mutage/geab017.

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Abstract Breast cancer (BC) is the most frequent malignancy in women accounting for approximately 2 million new cases worldwide annually. Several genetic, epigenetic and environmental factors are known to be involved in BC development and progression, including alterations in post-transcriptional gene regulation mediated by microRNAs (miRNAs). Single nucleotide polymorphisms (SNPs) located in miRNA binding sites (miRSNPs) in 3′-untranslated regions of target genes may affect miRNA-binding affinity and consequently modulate gene expression. We have previously reported a significant association
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5

Sayed, Ibrahim M., Ayse Z. Sahan, Tatiana Venkova, et al. "Helicobacter pylori infection downregulates the DNA glycosylase NEIL2, resulting in increased genome damage and inflammation in gastric epithelial cells." Journal of Biological Chemistry 295, no. 32 (2020): 11082–98. http://dx.doi.org/10.1074/jbc.ra119.009981.

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Infection with the Gram-negative, microaerophilic bacterium Helicobacter pylori induces an inflammatory response and oxidative DNA damage in gastric epithelial cells that can lead to gastric cancer (GC). However, the underlying pathogenic mechanism is largely unclear. Here, we report that the suppression of Nei-like DNA glycosylase 2 (NEIL2), a mammalian DNA glycosylase that specifically removes oxidized bases, is one mechanism through which H. pylori infection may fuel the accumulation of DNA damage leading to GC. Using cultured cell lines, gastric biopsy specimens, primary cells, and human e
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6

Huang, Hongbo, and Qingwang Hua. "NEIL3 Mediates Lung Cancer Progression and Modulates PI3K/AKT/mTOR Signaling: A Potential Therapeutic Target." International Journal of Genomics 2022 (April 30, 2022): 1–17. http://dx.doi.org/10.1155/2022/8348499.

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Background. Nei endonuclease VIII-like 3 (NEIL3) is widely involved in pathophysiological processes of the body; however, its role in lung cancer has not been conclusively determined. Objective. This study is aimed at exploring the role of NEIL3 in lung cancer. Methods. The public data used in this study were downloaded from The Cancer Genome Atlas (TCGA) database. “Limma” in R was used for the analysis of differentially expressed genes. Clinical correlations and prognostic analyses were performed using the survival package in R. The proliferative abilities of lung cancer cells were evaluated
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7

Shen, Mei-jie, Ge-ge Wang, Yu-zhen Wang, Jing Xie, and Xi Ding. "Nell-1 Enhances Osteogenic Differentiation of Pre-Osteoblasts on Titanium Surfaces via the MAPK-ERK Signaling Pathway." Cellular Physiology and Biochemistry 50, no. 4 (2018): 1522–34. http://dx.doi.org/10.1159/000494651.

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Background/Aims: This study aimed to investigate the effect of Nell-1 on the osteogenic behaviors of pre-osteoblasts on titanium (Ti) surfaces and to identify the underlying signaling pathway. Methods: Nell-1 at different concentrations was added to culture medium to stimulate MC3T3-E1 subclone 14 on Ti surfaces. A CCK-8 colorimetric assay was used to detect cell proliferation. Alkaline phosphatase activity (ALP) assay and enzyme-linked immunosorbent assay (ELISA) were used to evaluate ALP activity and the osteocalcin (OCN) secretion, respectively. Indicators of osteoblastic differentiation we
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8

Bidkhori, Mohammad, Mahdi Akbarzadeh, Noushin Fahimfar, et al. "Neural EGFL like 1 as a novel gene for Trabecular Bone Score in older adults: The Bushehr Elderly Health (BEH) program." PLOS ONE 19, no. 9 (2024): e0309401. http://dx.doi.org/10.1371/journal.pone.0309401.

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Neural EGFL like 1 (NELL-1), is a secreted glycoprotein and stimulates osteogenic cell differentiation and bone mineralization. This study aimed to explore the relationship between NELL-1 and Trabecular Bone Score (TBS) as a novel tool for the evaluation of osteoporosis in an elderly population-based cohort study in Iran. A single-locus analysis was performed on TBS using data from 2,071 participants in the Bushehr Elderly Health (BEH) Program. The study investigated 376 independent single nucleotide polymorphisms (SNPs) within the NELL-1 on chromosome 11p15.1. The association between SNPs and
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9

Truong, Thien, Xinli Zhang, Dharmini Pathmanathan, Chia Soo, and Kang Ting. "Craniosynostosis-Associated Gene Nell-1 Is Regulated by Runx2." Journal of Bone and Mineral Research 22, no. 1 (2006): 7–18. http://dx.doi.org/10.1359/jbmr.061012.

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10

Zhuang, Juanwei, Mingxiao Li, Xinkun Zhang, et al. "Construction of Bone Metastasis-Specific Regulation Network Based on Prognostic Stemness-Related Signatures in Prostate Cancer." Disease Markers 2022 (March 29, 2022): 1–27. http://dx.doi.org/10.1155/2022/8495923.

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Background. We planned to uncover the cancer stemness-related genes (SRGs) in prostate cancer (PCa) and its underlying mechanism in PCa metastasis. Methods. We acquired the RNA-seq data of 406 patients with PCa from the TCGA database. Based on the mRNA stemness index (mRNAsi) calculated by one-class logistic regression (OCLR) algorithm, SRGs in PCa were extracted by WGCNA. Univariate and multivariate regression analyses were applied to uncover OS-associated SRGs. Gene Set Variation Analysis (GSVA), Gene Set Enrichment Analysis (GSEA), and Pearson’s correlation analysis were performed to discov
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11

Fleming, Aaron M., Judy Zhu, Shereen A. Howpay Manage, and Cynthia J. Burrows. "Human NEIL3 Gene Expression Regulated by Epigenetic-Like Oxidative DNA Modification." Journal of the American Chemical Society 141, no. 28 (2019): 11036–49. http://dx.doi.org/10.1021/jacs.9b01847.

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12

Lloyd, R. Stephen. "Complex Roles of NEIL1 and OGG1: Insights Gained from Murine Knockouts and Human Polymorphic Variants." DNA 2, no. 4 (2022): 279–301. http://dx.doi.org/10.3390/dna2040020.

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DNA glycosylases promote genomic stability by initiating base excision repair (BER) in both the nuclear and mitochondrial genomes. Several of these enzymes have overlapping substrate recognition, through which a degree of redundancy in lesion recognition is achieved. For example, OGG1 and NEIL1 both recognize and release the imidazole-ring-fragmented guanine, FapyGua as part of a common overall pathway to cleanse the genome of damaged bases. However, these glycosylases have many differences, including their differential breadth of substrate specificity, the contrasting chemistries through whic
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13

Zakharenko, A. L., A. A. Malakhova, N. S. Dyrkheeva, et al. "<i>PARP1</i> GENE KNOCKOUT SUPPRESSES EXPRESSION OF DNA BASE EXCISION REPAIR GENES." Доклады Российской академии наук. Науки о жизни 510, no. 1 (2023): 219–24. http://dx.doi.org/10.31857/s2686738922600959.

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The effect of PARP1 knockout in HEK293 cells on the gene expression of DNA base excision repair (BER) proteins was studied. It was shown that the expression of all differentially expressed genes (DEGs) of BER was reduced by knockout. The expression of the DNA glycosylase gene NEIL1, which is considered to be one of the common “hubs” for binding BER proteins, has changed the most. The expression of genes of auxiliary subunits of DNA polymerases δ and ε is also significantly reduced. The PARP1 gene knockout cell line obtained is an adequate cell model for studying the activity of the BER process
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14

Shinmura, K. "Inactivating mutations of the human base excision repair gene NEIL1 in gastric cancer." Carcinogenesis 25, no. 12 (2004): 2311–17. http://dx.doi.org/10.1093/carcin/bgh267.

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15

Guido, Carpi. "Il giovane Dostoevskij I. «Povera gente»." Aura, no. 4 (December 15, 2022): 1–9. https://doi.org/10.5281/zenodo.10553304.

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L&#39;opera prima di Dostoevskij,&nbsp;<em>Povera gente&nbsp;</em>(1846) germina verosimilmente attorno a un primo nucleo in forma di diario condotto da un&rsquo;eroina che rappresenta la variante sociale degradata dell&rsquo;Eug&eacute;nie Grandet di Balzac (il cui romanzo eponimo era apparso in russo nel 1844, tradotto dallo stesso Dostoevskij). Il tasso di critica nei confronti della disuguaglianza sociale e della subordinazione della donna s&rsquo;innalza sotto l&rsquo;influenza di George Sand, del cui&nbsp;<em>Teverino &ndash;</em>&nbsp;contraddistinto da un pauperismo addirittura enfatic
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16

Bugaj, Anna M., Nicolas Kunath, Vidar Langseth Saasen, et al. "Dissecting gene expression networks in the developing hippocampus through the lens of NEIL3 depletion." Progress in Neurobiology 235 (April 2024): 102599. http://dx.doi.org/10.1016/j.pneurobio.2024.102599.

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17

Müller, Udo, Christina Bauer, Michael Siegl, Andrea Rottach, and Heinrich Leonhardt. "TET-mediated oxidation of methylcytosine causes TDG or NEIL glycosylase dependent gene reactivation." Nucleic Acids Research 42, no. 13 (2014): 8592–604. http://dx.doi.org/10.1093/nar/gku552.

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18

NYE, ROBERT A. "Neil R.Davison, Jewishness and Masculinity from the Modern to the Postmodern (New York and London: Taylor & Francis Group, 2010), pp. x-xi + 262. ISBN 13: 978-0-415-87586-8 (hb)." Gender & History 25, no. 1 (2013): 204–5. http://dx.doi.org/10.1111/gend.12008_8.

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19

Stanghellini, I., E. Genovese, S. Palma, C. Falcinelli, L. Presutti, and A. Percesepe. "A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation." Acta Otorhinolaryngologica Italica 37, no. 4 (2017): 308–11. http://dx.doi.org/10.14639/0392-100x-1382.

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Le mutazioni dominanti del gene GJB2 sono causa di forme di sordità neurosensoriale sindromiche associate a manifestazioni cutanee palmo-plantari. In questo lavoro viene descritta la correlazione genotipo / fenotipo di una nuova mutazione nel gene GJB2 identificata in tre generazioni di una famiglia italiana (probando, madre e nonno) i cui membri presentano ipoacusia neurosensoriale associata a cheratoderma palmo-plantare ad insorgenza nell’età adulta. Una nuova mutazione di GJB2 (c.66G &gt; T, p.Lys22Asn) allo stato eterozigote è stata identificata in tutti membri affetti. La segregazione del
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20

Chen, Weiwei, Xinli Zhang, Ronald K. Siu, et al. "Nfatc2 is a primary response gene of nell-1 regulating chondrogenesis in ATDC5 cells." Journal of Bone and Mineral Research 26, no. 6 (2011): 1230–41. http://dx.doi.org/10.1002/jbmr.314.

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21

Deng, Yu, He Huang, Jiangcheng Shi, and Hongyan Jin. "Identification of Candidate Genes in Breast Cancer Induced by Estrogen Plus Progestogens Using Bioinformatic Analysis." International Journal of Molecular Sciences 23, no. 19 (2022): 11892. http://dx.doi.org/10.3390/ijms231911892.

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Menopausal hormone therapy (MHT) was widely used to treat menopause-related symptoms in menopausal women. However, MHT therapies were controversial with the increased risk of breast cancer because of different estrogen and progestogen combinations, and the molecular basis behind this phenomenon is currently not understood. To address this issue, we identified differentially expressed genes (DEGs) between the estrogen plus progestogens treatment (EPT) and estrogen treatment (ET) using the Gene Expression Omnibus (GEO) and The Cancer Genome Atlas (TCGA) data. As a result, a total of 96 upregulat
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22

Saarani, Mohamad Azam Firdaus, Hoi-Sen Yong, Badrul Munir Md-Zain, Jennifer A. Leonard, and Hasmahzaiti Omar. "Molecular Phylogeny of Long-Tailed Giant Rats (Muridae: Genus Leopoldamys) Based on Mitochondrial Cytochrome B Sequences." Sains Malaysiana 52, no. 3 (2023): 741–55. http://dx.doi.org/10.17576/jsm-2023-5203-05.

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Two species of Leopoldamys long-tailed giant rats are found in Peninsular Malaysia. They are currently referred to as Leopoldamys ciliatus which inhabits montane habitat, and Leopoldamys vociferans which usually inhabits the lowland forest. To date, there is no report on the phylogenetic relationship of L. ciliatus with the other Leopoldamys taxa. The present study was carried out to determine its relationship, based on the mitochondrial cytochrome b (cyt b) gene sequence, with L. vociferans of Peninsular Malaysia and other congeners. Phylogenetic analysis shows that L. ciliatus is a sister-sp
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23

Kakhkharova, Zarina I., Dmitry O. Zharkov, and Inga R. Grin. "A Low-Activity Polymorphic Variant of Human NEIL2 DNA Glycosylase." International Journal of Molecular Sciences 23, no. 4 (2022): 2212. http://dx.doi.org/10.3390/ijms23042212.

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Human NEIL2 DNA glycosylase (hNEIL2) is a base excision repair protein that removes oxidative lesions from DNA. A distinctive feature of hNEIL2 is its preference for the lesions in bubbles and other non-canonical DNA structures. Although a number of associations of polymorphisms in the hNEIL2 gene were reported, there is little data on the functionality of the encoded protein variants, as follows: only hNEIL2 R103Q was described as unaffected, and R257L, as less proficient in supporting the repair in a reconstituted system. Here, we report the biochemical characterization of two hNEIL2 variant
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24

Kinslow, C. J., R. A. El-Zein, C. M. Rondelli, C. E. Hill, J. K. Wickliffe, and S. Z. Abdel-Rahman. "Regulatory regions responsive to oxidative stress in the promoter of the human DNA glycosylase gene NEIL2." Mutagenesis 25, no. 2 (2009): 171–77. http://dx.doi.org/10.1093/mutage/gep058.

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25

Wang, Chenyu, Yingnan Wang, Cunyi Wang, et al. "Therapeutic application of 3B-PEG injectable hydrogel/Nell-1 composite system to temporomandibular joint osteoarthritis." Biomedical Materials 17, no. 1 (2021): 015004. http://dx.doi.org/10.1088/1748-605x/ac367f.

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Abstract This study aims to construct a composite system of the tri-block polyethylene glycol injectable hydrogel (3B-PEG IH) and neural epithelial growth factor-like protein 1 (Nell-1), and to analyze its therapeutic effect on temporomandibular joint osteoarthritis (TMJOA). Sol-gel transition temperature was measured via inverting test. The viscoelastic modulus curves was measured by rheometer. Degradation and controlled release profiles of 3B-PEG IH were drawn in vitro. In vivo gel retention and biocompatibility were completed subcutaneously on the back of rats. After primary chondrocytes we
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26

Zhang, Xinli, Dale Carpenter, Nobuyuki Bokui, et al. "Overexpression of Nell-1 , a Craniosynostosis-Associated Gene, Induces Apoptosis in Osteoblasts During Craniofacial Development." Journal of Bone and Mineral Research 18, no. 12 (2003): 2126–34. http://dx.doi.org/10.1359/jbmr.2003.18.12.2126.

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27

Teng, Pai-Chi, Shu-Pin Huang, Chia-Hsin Liu, et al. "Identification of DNA Damage Repair-Associated Prognostic Biomarkers for Prostate Cancer Using Transcriptomic Data Analysis." International Journal of Molecular Sciences 22, no. 21 (2021): 11771. http://dx.doi.org/10.3390/ijms222111771.

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In the recent decade, the importance of DNA damage repair (DDR) and its clinical application have been firmly recognized in prostate cancer (PC). For example, olaparib was just approved in May 2020 to treat metastatic castration-resistant PC with homologous recombination repair-mutated genes; however, not all patients can benefit from olaparib, and the treatment response depends on patient-specific mutations. This highlights the need to understand the detailed DDR biology further and develop DDR-based biomarkers. In this study, we establish a four-gene panel of which the expression is signific
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28

Post, Annemarie E. M., Johan Bussink, Fred C. G. J. Sweep, and Paul N. Span. "Changes in DNA Damage Repair Gene Expression and Cell Cycle Gene Expression Do Not Explain Radioresistance in Tamoxifen-Resistant Breast Cancer." Oncology Research Featuring Preclinical and Clinical Cancer Therapeutics 28, no. 1 (2020): 33–40. http://dx.doi.org/10.3727/096504019x15555794826018.

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Tamoxifen-induced radioresistance, reported in vitro, might pose a problem for patients who receive neoadjuvant tamoxifen treatment and subsequently receive radiotherapy after surgery. Previous studies suggested that DNA damage repair or cell cycle genes are involved, and could therefore be targeted to preclude the occurrence of cross-resistance. We aimed to characterize the observed cross-resistance by investigating gene expression of DNA damage repair genes and cell cycle genes in estrogen receptor-positive MCF-7 breast cancer cells that were cultured to tamoxifen resistance. RNA sequencing
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29

Benítez-Buelga, Carlos, Juan Miguel Baquero, Tereza Vaclova, et al. "Genetic variation in the NEIL2 DNA glycosylase gene is associated with oxidative DNA damage in BRCA2 mutation carriers." Oncotarget 8, no. 70 (2017): 114626–36. http://dx.doi.org/10.18632/oncotarget.22638.

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30

Romano, Rosa, Apostolos Zaravinos, Kyriaki Liadaki, et al. "NEIL1 is a candidate gene associated with common variable immunodeficiency in a patient with a chromosome 15q24 deletion." Clinical Immunology 176 (March 2017): 71–76. http://dx.doi.org/10.1016/j.clim.2017.01.006.

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31

Sobczak, Maciej, Julita Pietrzak, Tomasz Płoszaj, and Agnieszka Robaszkiewicz. "BRG1 Activates Proliferation and Transcription of Cell Cycle-Dependent Genes in Breast Cancer Cells." Cancers 12, no. 2 (2020): 349. http://dx.doi.org/10.3390/cancers12020349.

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Cancer malignancy is usually characterized by unlimited self-renewal. In some types of advanced tumors that are rapidly dividing, gene expression profiles depict elevations in pro-proliferative genes accompanied by coordinately elevated transcription of factors responsible for removal of DNA lesions. In our studies, fast proliferating breast cancer cell lines (MDA-MB-231 and MCF7), BRG1, a component of the SWI/SNF complex, emerges as an activator of functionally-linked genes responsible for activities such as mitotic cell divisions and DNA repair. Products of at least some of them are consider
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32

Hayes, D. Neil Neil, Greg Mayhew, Josh Uronis, and Jose Zevallos. "Abstract 2142: Prognostic and predictive applications from mesenchymal gene expression subtype analysis for early-stage, HPV(-) head and neck squamous cell carcinoma." Cancer Research 82, no. 12_Supplement (2022): 2142. http://dx.doi.org/10.1158/1538-7445.am2022-2142.

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Abstract Introduction: Although often presented as one disease for genomic studies, head and neck squamous cell carcinoma (HNSCC) is treated according to clinical factors such as anatomic subsite, and tumor stage. Oral cavity squamous cell carcinoma (OCSCC) comprises 1/3 of all HNSCC and is predominantly HPV(-). Depending upon clinical stage, OCSCC treatment involves surgical resection +/- neck dissection, followed by radiation +/- chemotherapy. Our group and others previously described four mRNA expression patterns (classical, atypical, basal, and mesenchymal), each with unique genomic featur
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33

Maryanto, Ibnu, and M. H. Sinaga. "NEW SPECIES OF LEOPOLDAMYS (MAMMALS, RODENTIA: MURIDAE) FROM KALIMANTAN AND JAWA." Treubia 36 (February 20, 2014): 23–36. https://doi.org/10.14203/treubia.v36i0.102.

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During May-June 2008 survey an individual Leopoldamys was caught withbicolored tail sharply demarcated between the upper and lower part from Haju Maruwaiarea in Kalimantan. Following this two more specimens from the MZB collection werefound with individual bicolor tails from Bukit Baka National Park West Kalimantan andCibodas Botanical Garden Gede Pangrango, West Jawa. Comparative study on theexternal characters and skull measurements with L. sabanus, L. edwardsi and L.siporanus from Kalimantan, Jawa and Sumatra and adjacent islands (using invariable,multivariate and discriminant analysis), re
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34

Jelinek, Jaroslav, Marcos R. H. Estecio, Kimie Kondo, Rong He, Jiri Zavadil, and Jean-Pierre J. Issa. "Classifying Leukemias Based on Epigenetic Alterations." Blood 110, no. 11 (2007): 2123. http://dx.doi.org/10.1182/blood.v110.11.2123.2123.

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Abstract Acute leukemia is caused by alterations of blood-forming stem cells leading to uncontrolled growth and diminished capacity to differentiate into mature functional blood elements. Beside genetic changes, epigenetic alterations are increasingly recognized as important events in the pathogenesis of leukemia. Cytosine methylation in CpG islands at gene transcription start regions can cause heritable gene silencing and have the same functional effects as inactivating mutations. Hundreds of genes may become epigenetically silenced in leukemia. While many of the methylated genes are not expr
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35

Flasarova, Dominika, Katerina Urban, Ondrej Strouhal, et al. "DNA Repair Pathway in Ovarian Cancer Patients Treated with HIPEC." International Journal of Molecular Sciences 24, no. 10 (2023): 8868. http://dx.doi.org/10.3390/ijms24108868.

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DNA repair pathways are essential for maintaining genome stability, and understanding the regulation of these mechanisms may help in the design of new strategies for treatments, the prevention of platinum-based chemoresistance, and the prolongation of overall patient survival not only with respect to ovarian cancer. The role of hyperthermic intraperitoneal chemotherapy (HIPEC) together with cytoreductive surgery (CRS) and adjuvant systemic chemotherapy is receiving more interest in ovarian cancer (OC) treatment because of the typical peritoneal spread of the disease. The aim of our study was t
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36

Schreiner, Yannick, Teresa Stoll, Oliver Nowak, et al. "aCGH Analysis Reveals Novel Mutations Associated with Congenital Diaphragmatic Hernia Plus (CDH+)." Journal of Clinical Medicine 12, no. 19 (2023): 6111. http://dx.doi.org/10.3390/jcm12196111.

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Congenital diaphragmatic hernia (CDH) is a major birth anomaly that often occurs with additional non-hernia-related malformations, and is then referred to as CDH+. While the impact of genetic alterations does not play a major role in isolated CDH, patients with CDH+ display mutations that are usually determined via array-based comparative genomic hybridization (aCGH). We analyzed 43 patients with CDH+ between 2012 and 2021 to identify novel specific mutations via aCGH associated with CDH+ and its outcome. Deletions (n = 32) and duplications (n = 29) classified as either pathological or variant
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37

Aghaloo, Tara, Xinquan Jiang, Chia Soo, et al. "A Study of the Role of Nell-1 Gene Modified Goat Bone Marrow Stromal Cells in Promoting New Bone Formation." Molecular Therapy 15, no. 10 (2007): 1872–80. http://dx.doi.org/10.1038/sj.mt.6300270.

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38

Xia, Lunguo, Yuanjin Xu, Qing Chang, et al. "Maxillary Sinus Floor Elevation Using BMP-2 and Nell-1 Gene-Modified Bone Marrow Stromal Cells and TCP in Rabbits." Calcified Tissue International 89, no. 1 (2011): 53–64. http://dx.doi.org/10.1007/s00223-011-9493-1.

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39

Wang, Xiaoyu, Fang Ju, Ang Li, et al. "Nell-1 Gene Modified Mesenchymal Stem Cells on Biomimetic Porous Nano-Hydroxyapatite/Polyamide 66 Scaffolds Effectively Prevent Nonunion in Rats." Journal of Biomaterials and Tissue Engineering 6, no. 5 (2016): 408–16. http://dx.doi.org/10.1166/jbt.2016.1456.

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He, Yuyun, Xiaoyao Yin, Jingjing Dong, Qing Yang, Yongning Wu, and Zhiyong Gong. "Transcriptome Analysis of Caco-2 Cells upon the Exposure of Mycotoxin Deoxynivalenol and Its Acetylated Derivatives." Toxins 13, no. 2 (2021): 167. http://dx.doi.org/10.3390/toxins13020167.

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Deoxynivalenol (DON), 3-acetyldeoxynivalenol (3-ADON) and 15-acetyldeoxynivalenol (15-ADON) are type B trichothecenes; one of the major pollutants in food and feed products. Although the toxicity of DON has been well documented, information on the toxicity of its acetylated derivative remains incomplete. To acquire more detailed insight into 3-ADON and 15-ADON, Caco-2 cells under 0.5 µM DON, 3-ADON and 15-ADON treatment for 24 h were subjected to RNA-seq analysis. In the present study, 2656, 3132 and 2425 differentially expressed genes (DEGs) were selected, respectively, and were enriched util
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Blenk, S., J. Engelmann, M. Weniger, et al. "Germinal Center B Cell-Like (GCB) and Activated B Cell-Like (ABC) Type of Diffuse Large B Cell Lymphoma (DLBCL): Analysis of Molecular Predictors, Signatures, Cell Cycle State and Patient Survival." Cancer Informatics 3 (January 2007): 117693510700300. http://dx.doi.org/10.1177/117693510700300004.

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Aiming to find key genes and events, we analyze a large data set on diffuse large B-cell lymphoma (DLBCL) gene-expression (248 patients, 12196 spots). Applying the loess normalization method on these raw data yields improved survival predictions, in particular for the clinical important group of patients with medium survival time. Furthermore, we identify a simplified prognosis predictor, which stratifies different risk groups similarly well as complex signatures. We identify specific, activated B cell-like (ABC) and germinal center B cell-like (GCB) distinguishing genes. These include early (
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Sun, Wenqiang, Hanjun Ren, Mengze Li, et al. "Genomic Insights and Conservation Priorities for Kongshan Cattle: A Whole-Genome Resequencing Approach." Animals 14, no. 21 (2024): 3056. http://dx.doi.org/10.3390/ani14213056.

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Kongshan Cattle, indigenous to Sichuan Province and recognized as China’s 56th local cattle breed in 2024, exhibit unique adaptations including superior resistance to harsh conditions. Despite a declining population due to the influx of foreign breeds, there is a significant focus on preserving their genetic diversity through advanced genomic techniques. This study utilized whole-genome resequencing, a cost-effective and information-rich method, to perform a comprehensive genetic assessment of the Kongshan Cattle. High-quality resequencing data yielded an average of 17.5 billion clean bases pe
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Liu, Menghe, Katja Hummitzsch, Monica D. Hartanti, et al. "Analysis of expression of candidate genes for polycystic ovary syndrome in adult and fetal human and fetal bovine ovaries†." Biology of Reproduction 103, no. 4 (2020): 840–53. http://dx.doi.org/10.1093/biolre/ioaa119.

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Abstract Polycystic ovary syndrome (PCOS) appears to have a genetic predisposition and a fetal origin. We compared the expression levels of 25 PCOS candidate genes from adult control and PCOS human ovaries (n = 16) using microarrays. Only one gene was potentially statistically different. Using qRT-PCR, expression of PCOS candidate genes was examined in bovine fetal ovaries from early stages when they first developed stroma through to completion of development (n = 27; 60–270 days of gestation). The levels of ERBB3 mRNA negatively correlated with gestational age but positively with HMGA2, FBN3,
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He, Wenfang, Jinshi Zhang, Shizhu Yuan, Mingzhu Liang, Weidong Chen, and Juan Jin. "Integrative analysis of miRNA–mRNA network in idiopathic membranous nephropathy by bioinformatics analysis." PeerJ 9 (September 29, 2021): e12271. http://dx.doi.org/10.7717/peerj.12271.

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Background Currently, several specific antigens, M-type receptor for secretory phospholipase A2(PLA2R1), thrombospondin type-1 domain-containing 7A(THSD7A), and neural epidermal growth factor-like 1 protein (NELL-1), are discovered associated with the onset of idiopathic membranous nephropathy (IMN). But the pathomechanisms of IMN still need to be further claried. Understanding the mechanisms of IMN is required to improve its diagnosis and treatment. Methods In this study, we constructed miRNA regulatory networks to investigate IMN development. Moreover, miRNAs and mRNAs that were differential
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Wang, Li, Wenjun Zhang, Tao Yang, Le He, Yunmei Liao, and Jiaxi Lu. "Construction and Comprehensive Analysis of a Stratification System Based on AGTRAP in Patients with Hepatocellular Carcinoma." Disease Markers 2021 (November 17, 2021): 1–18. http://dx.doi.org/10.1155/2021/6144476.

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Background. With the development of sequencing technology, several signatures have been reported for the prediction of prognosis in patients with hepatocellular carcinoma (HCC). However, the above signatures are characterized by cumbersome application. Therefore, the study is aimed at screening out a robust stratification system based on only one gene to guide treatment. Methods. Firstly, we used the limma package for performing differential expression analysis on 374 HCC samples, followed by Cox regression analysis on overall survival (OS) and disease-free interval (PFI). Subsequently, hub pr
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Skarpengland, Tonje, Lars Erik Laugsand, Imre Janszky, et al. "Genetic variants in the DNA repair gene NEIL3 and the risk of myocardial infarction in a nested case–control study. The HUNT Study." DNA Repair 28 (April 2015): 21–27. http://dx.doi.org/10.1016/j.dnarep.2015.01.013.

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Jiraskova, Katerina, David Hughes, Stefanie Brezina, et al. "Functional Polymorphisms in DNA Repair Genes Are Associated with Sporadic Colorectal Cancer Susceptibility and Clinical Outcome." International Journal of Molecular Sciences 20, no. 1 (2018): 97. http://dx.doi.org/10.3390/ijms20010097.

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DNA repair processes are involved in both the onset and treatment efficacy of colorectal cancer (CRC). A change of a single nucleotide causing an amino acid substitution in the corresponding protein may alter the efficiency of DNA repair, thus modifying the CRC susceptibility and clinical outcome. We performed a candidate gene approach in order to analyze the association of non-synonymous single nucleotide polymorphisms (nsSNPs) in the genes covering the main DNA repair pathways with CRC risk and clinical outcome modifications. Our candidate polymorphisms were selected according to the foremos
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Kip, Markus. "Krisendiagnostik einer kritischen Stadtforschung." sub\urban. zeitschrift für kritische stadtforschung 9, no. 1/2 (2021): 171–77. http://dx.doi.org/10.36900/suburban.v9i1/2.680.

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Höhne und Michel (2021) beschreiben Symptome einer „Krise der Städte“, die im Zuge der Coronapandemie deutlicher zum Vorschein kommen. Mit ihren Thesen legen sie nahe, dass es auf ein Ende des Städtischen – as we know it – hinauslaufen könnte. Im Grunde genommen bezeichnen viele der Thesen Entwicklungen, die schon vor der Pandemie zu beobachten waren. Gerne gehe ich auf die Einladung ein, über die Krisendiagnostik einer sich als kritisch verstehenden Stadtforschung zu reflektieren. Anstoß nehme ich daran, dass die Perspektive der Krisendiagnostik im Debattenaufschlag ungeklärt bleibt. Aus wess
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Sobczak, Pitt, Spickett, and Robaszkiewicz. "PARP1 Co-Regulates EP300–BRG1-Dependent Transcription of Genes Involved in Breast Cancer Cell Proliferation and DNA Repair." Cancers 11, no. 10 (2019): 1539. http://dx.doi.org/10.3390/cancers11101539.

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BRG1, an active subunit of the SWI/SNF chromatin-remodeling complex, enables the EP300-dependent transcription of proliferation and DNA repair genes from their E2F/CpG-driven promoters in breast cancer cells. In the current study, we show that BRG1–EP300 complexes are accompanied by poly-ADP-ribose polymerase 1 (PARP1), which emerges as the functional component of the promoter-bound multiprotein units that are capable of controlling gene expression. This enzyme is co-distributed with BRG1 at highly acetylated promoters of genes such as CDK4, LIG1, or NEIL3, which are responsible for cancer cel
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Smatlikova, Petra, Georgina Askeland, Michaela Vaskovicova, et al. "Age-Related Oxidative Changes in Primary Porcine Fibroblasts Expressing Mutated Huntingtin." Neurodegenerative Diseases 19, no. 1 (2019): 22–34. http://dx.doi.org/10.1159/000500091.

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Background: Huntington’s disease (HD) is a devastating neurodegenerative disorder caused by CAG triplet expansions in the huntingtin gene. Oxidative stress is linked to HD pathology, although it is not clear whether this is an effect or a mediator of disease. The transgenic (TgHD) minipig expresses the N-terminal part of human-mutated huntingtin and represents a unique model to investigate therapeutic strategies towards HD. A more detailed characterization of this model is needed to fully utilize its potential. Methods: In this study, we focused on the molecular and cellular features of fibrob
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