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Thematische Bibliographien / Exonic DNA methylation / Zeitschriftenartikel

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Zeitschriftenartikel zum Thema „Exonic DNA methylation“

Autor: Grafiati

Veröffentlicht am 25. Mai 2024

Zuletzt aktualisiert am 31. Juli 2025

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1

Emon, Isaac M., Ruaa Al-Qazazi, Michael J. Rauh, and Stephen L. Archer. "The Role of Clonal Hematopoiesis of Indeterminant Potential and DNA (Cytosine-5)-Methyltransferase Dysregulation in Pulmonary Arterial Hypertension and Other Cardiovascular Diseases." Cells 12, no. 21 (2023): 2528. http://dx.doi.org/10.3390/cells12212528.

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DNA methylation is an epigenetic mechanism that regulates gene expression without altering gene sequences in health and disease. DNA methyltransferases (DNMTs) are enzymes responsible for DNA methylation, and their dysregulation is both a pathogenic mechanism of disease and a therapeutic target. DNMTs change gene expression by methylating CpG islands within exonic and intergenic DNA regions, which typically reduces gene transcription. Initially, mutations in the DNMT genes and pathologic DNMT protein expression were found to cause hematologic diseases, like myeloproliferative disease and acute

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Anastasiadou, Christina, Andigoni Malousi, Nicos Maglaveras, and Sofia Kouidou. "Human Epigenome Data Reveal Increased CpG Methylation in Alternatively Spliced Sites and Putative Exonic Splicing Enhancers." DNA and Cell Biology 30, no. 5 (2011): 267–75. http://dx.doi.org/10.1089/dna.2010.1094.

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Chen, Xiaona, Xinyu Duan, Qingqing Chong, Chunqing Li, Heng Xiao, and Shanyuan Chen. "Genome-Wide DNA Methylation Differences between Bos indicus and Bos taurus." Animals 13, no. 2 (2023): 203. http://dx.doi.org/10.3390/ani13020203.

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Disease risk is a persistent problem in domestic cattle farming, while economic traits are the main concern. This study aimed to reveal the epigenetic basis for differences between zebu (Bos indicus) and taurine cattle (Bos taurus) in disease, disease resistance, and economic traits, and provide a theoretical basis for the genetic improvement of domestic cattle. In this study, whole genome bisulfite sequencing (WGBS) was used to analyze the whole-genome methylation of spleen and liver samples from Yunnan zebu and Holstein cattle. In the genome-wide methylation pattern analysis, it was found th

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Park, Jee-Soo, Yun-Hee Shin, and Young-Doo Park. "DNA Methylation Level Changes in Transgenic Chinese Cabbage (Brassica rapa ssp. pekinensis) Plants and Their Effects on Corresponding Gene Expression Patterns." Genes 12, no. 10 (2021): 1563. http://dx.doi.org/10.3390/genes12101563.

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Plant tissue culture is an in vitro technique used to manipulate cells, tissues, or organs, and plays an important role in genetic transformation. However, plants cultured in vitro often exhibit unintended genetic and epigenetic variations. Since it is important to secure the stability of endogenous and exogenous gene expressions in transgenic plants, it is preferable to avoid the occurrence of such variations. In this study, we focused on epigenetic variations, exclusively on methylation level changes of DNA, in transgenic Chinese cabbage (Brassica rapa ssp. pekinensis) plants. To detect thes

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Xiao, Chunlin, and Valerie Schneider. "Abstract 3743: Genome-wide profiling of DNA N6-methylation from a breast cancer and a matched normal cell lines." Cancer Research 82, no. 12_Supplement (2022): 3743. http://dx.doi.org/10.1158/1538-7445.am2022-3743.

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Abstract DNA N6-methyladenine (m6A) modification has been found widely presented in the human genome, and genome-wide DNA methylation profiling in cancer may reveal epigenetic signatures with significant clinical outcomes. Whole genome sequencing data from PacBio single-molecule real-time (SMRT) system provides signals for identifying the presence of m6A in human genomic DNA. We identified 343,199 m6A modification sites with an average density of 122 per Mb in the HCC1395 breast cancer cell line, whereas 722,303 m6A modification sites with average density of 257 per Mb were observed in a match

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Yu, Xiying, Ying Teng, Xingran Jiang, Hui Yuan, and Wei Jiang. "Genome-Wide DNA Methylation Pattern of Cancer Stem Cells in Esophageal Cancer." Technology in Cancer Research & Treatment 19 (January 1, 2020): 153303382098379. http://dx.doi.org/10.1177/1533033820983793.

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Background: Cancer stem cells (CSCs) are considered the main cause of cancer recurrence and metastasis, and DNA methylation is involved in the maintenance of CSCs. However, the methylation profile of esophageal CSCs remains unknown. Methods: Side population (SP) cells were isolated from esophageal squamous cell carcinoma (ESCC) cell lines KYSE150 and EC109. Sphere-forming cells were collected from human primary esophageal cancer cells. SP cells and sphere-forming cells were used as substitutes for cancer stem-like cells. We investigated the genome-wide DNA methylation profile in esophageal can

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Verma, Pratima, Amrita Singh, Supriya Purru, Kangila Venkataramana Bhat, and Suman Lakhanpaul. "Comparative DNA Methylome of Phytoplasma Associated Retrograde Metamorphosis in Sesame (Sesamum indicum L.)." Biology 11, no. 7 (2022): 954. http://dx.doi.org/10.3390/biology11070954.

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Phytoplasma-associated diseases such as phyllody and little leaf are critical threats to sesame cultivation worldwide. The mechanism of the dramatic conversion of flowers to leafy structures leading to yield losses and the drastic reduction in leaf size due to Phytoplasma infection remains yet to be identified. Cytosine methylation profiles of healthy and infected sesame plants studied using Whole Genome Bisulfite Sequencing (WGBS) and Quantitative analysis of DNA methylation with the real-time PCR (qAMP) technique revealed altered DNA methylation patterns upon infection. Phyllody was associat

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Terp, Simone Karlsson, Karen Guldbrandsen, Malene Pontoppidan Stoico, et al. "Genome-Wide cfDNA Methylation Profiling Reveals Robust Hypermethylation Signatures in Ovarian Cancer." Cancers 17, no. 12 (2025): 2026. https://doi.org/10.3390/cancers17122026.

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Background: Ovarian cancer remains the most lethal gynecological cancer, primarily due to its asymptomatic nature in early stages and consequent late diagnosis. Early detection improves survival, but current biomarkers lack sensitivity and specificity. Cell-free DNA (cfDNA) released from tumor cells captures tumor-associated epigenetic alterations and represents a promising source for minimally invasive biomarkers. Among these, aberrant DNA methylation occurs early in tumorigenesis and may reflect underlying disease biology. This study aimed to investigate genome-wide cfDNA methylation profile

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Nishida, Hiromi. "Nucleosome Positioning." ISRN Molecular Biology 2012 (October 15, 2012): 1–5. http://dx.doi.org/10.5402/2012/245706.

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Nucleosome positioning is not only related to genomic DNA compaction but also to other biological functions. After the chromatin is digested by micrococcal nuclease, nucleosomal (nucleosome-bound) DNA fragments can be sequenced and mapped on the genomic DNA sequence. Due to the development of modern DNA sequencing technology, genome-wide nucleosome mapping has been performed in a wide range of eukaryotic species. Comparative analyses of the nucleosome positions have revealed that the nucleosome is more frequently formed in exonic than intronic regions, and that most of transcription start and

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Ackah, Michael, Liangliang Guo, Shaocong Li, et al. "DNA Methylation Changes and Its Associated Genes in Mulberry (Morus alba L.) Yu-711 Response to Drought Stress Using MethylRAD Sequencing." Plants 11, no. 2 (2022): 190. http://dx.doi.org/10.3390/plants11020190.

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Drought stress remains one of the most detrimental environmental cues affecting plant growth and survival. In this work, the DNA methylome changes in mulberry leaves under drought stress (EG) and control (CK) and their impact on gene regulation were investigated by MethylRAD sequencing. The results show 138,464 (37.37%) and 56,241 (28.81%) methylation at the CG and CWG sites (W = A or T), respectively, in the mulberry genome between drought stress and control. The distribution of the methylome was prevalent in the intergenic, exonic, intronic and downstream regions of the mulberry plant genome

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Claus, Rainer, Manfred Fliegauf, Michael Stock, Jesus Duque, Mateusz Kolanczyk, and Michael Lübbert. "AML1/ETO-Mediated Lysozyme Repression Is Independently Relieved by Inhibitors of DNA Methylation and Histone Deacetylation." Blood 108, no. 11 (2006): 4310. http://dx.doi.org/10.1182/blood.v108.11.4310.4310.

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Abstract The human lysozyme (LZM) gene, a marker gene for myeloid-specific development, is highly methylated in immature myeloid and in non-myeloid cells (all LZM-negative), and unmethylated in LZM-expressing mature phagocyte cells. Thus this gene provides an excellent model for investigating differentation-associated DNA methylation changes during myelopoiesis. There is now increasing evidence that LZM (containing five perfect consensus binding sites for AML1/RUNX1 in its 5′ region) is repressed by the AML1/ETO chimeric transcription factor (Fliegauf et al, Oncogene 23:9070–81, 2004), and thi

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Epstein, Richard J., Frank P. Y. Lin, Robert A. Brink, and James Blackburn. "Synonymous alterations of cancer-associated Trp53 CpG mutational hotspots cause fatal developmental jaw malocclusions but no tumors in knock-in mice." PLOS ONE 18, no. 4 (2023): e0284327. http://dx.doi.org/10.1371/journal.pone.0284327.

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Intragenic CpG dinucleotides are tightly conserved in evolution yet are also vulnerable to methylation-dependent mutation, raising the question as to why these functionally critical sites have not been deselected by more stable coding sequences. We previously showed in cell lines that altered exonic CpG methylation can modify promoter start sites, and hence protein isoform expression, for the human TP53 tumor suppressor gene. Here we extend this work to the in vivo setting by testing whether synonymous germline modifications of exonic CpG sites affect murine development, fertility, longevity,

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Kolb, Kathleen Liedtke, Ana Luiza Sprotte Mira, Eduardo Delabio Auer, et al. "Glucocorticoid Receptor Gene (NR3C1) Polymorphisms and Metabolic Syndrome: Insights from the Mennonite Population." Genes 14, no. 9 (2023): 1805. http://dx.doi.org/10.3390/genes14091805.

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The regulation of the hypothalamic-pituitary-adrenal (HPA) axis is associated with polymorphisms and the methylation degree of the glucocorticoid receptor gene (NR3C1) and is potentially involved in the development of metabolic syndrome (MetS). In order to evaluate the association between MetS with the polymorphisms, methylation, and gene expression of the NR3C1 in the genetically isolated Brazilian Mennonite population, we genotyped 20 NR3C1 polymorphisms in 74 affected (MetS) and 138 unaffected individuals without affected first-degree relatives (Co), using exome sequencing, as well as five

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Geng, Huimin, Mignon L. Loh, Richard C. Harvey, et al. "Genome-Wide DNA Methylation Analysis Reveals Biological and Clinical Insights In Relapsed Childhood Acute Lymphoblastic Leukemia: A Report From The COG ALL Target Project." Blood 122, no. 21 (2013): 3736. http://dx.doi.org/10.1182/blood.v122.21.3736.3736.

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Abstract Although survival of children with B-cell acute lymphoblastic leukemia (B-ALL) has improved substantially over time, 15% to 20% of patients will relapse, and most of those who experience a bone marrow relapse will die. A better understanding of genetic and epigenetic aberrations in relapsed ALL will facilitate new strategies for risk stratification and targeted therapy. In this collaborative study with the Therapeutically Applicable Research to Generate Effective Treatments (TARGET) project, we performed high resolution genome-wide DNA methylation profiling using the HELP (HpaII tiny

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Swierczek#, Sabina, Neeraj Agarwal#, Gerald Rothstein, Roberto Nussenzveig, and Josef Prchal. "Is Hematopoiesis Clonal in Healthy Elderly Females?" Blood 110, no. 11 (2007): 2223. http://dx.doi.org/10.1182/blood.v110.11.2223.2223.

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Abstract Clonality studies can establish the single cell origin of tumors and differentiate nonmalignant from malignant states. Detection of clonal cells may be genotype-based relying on somatic mutations to mark the clonal population (e.g. 9q+:22q– translocation in CML), or phenotype-based, where the clonal population is identified by expression of surrogate genes which facilitate tracking the clonal process. Methods for determining phenotypic clonality rely on the principle of X chromosome inactivation (XCIP), unique to women, and are based on differentiating transcriptionally active from in

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Natarajan, Umamaheswari, Sultan E. Ahmed, Steve Weinstein, and Appu Rathinavelu. "Abstract 2117: Changes of the DNA methylation status in multiple myeloma patients experiencing chemotherapy induced peripheral neuropathy." Cancer Research 83, no. 7_Supplement (2023): 2117. http://dx.doi.org/10.1158/1538-7445.am2023-2117.

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Abstract Chemotherapy-Induced Peripheral Neuropathy (CIPN) is considered to be one of the most common side effects caused by anti-neoplastic agents (1) such as Bortezomib (BTZ), Cisplatin (CSP), Taxol (TAX), and Vincristine (VINC). Clinical manifestations of CIPN include deficits of varying intensities of sensory, motor, and autonomic functions. Growing evidence suggests that epigenetic alterations could strongly underlie the induction and maintenance of PN (Peripheral Neuropathy) caused by many factors, including chemotherapy. Recently, a few groups have reported epigenetic alterations as wel

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Yeung, Kit San, Matthew Sai Pong Ho, So Lun Lee, et al. "Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay." Journal of Medical Genetics 55, no. 12 (2018): 847–52. http://dx.doi.org/10.1136/jmedgenet-2018-105328.

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BackgroundWe report here clinical, cytogenetic and molecular data for a pair of monochorionic diamniotic twins with paternal isodisomy for chromosome 19. Both twins presented with dysmorphic features and global developmental delay. This represents, to our knowledge, the first individual human case of paternal uniparental disomy for chromosome 19 (UPD19).MethodsWhole-exome sequencing, together with conventional karyotype and SNP array analysis were performed along with genome-wide DNA methylation array for delineation of the underlying molecular defects.ResultsConventional karyotyping on amnioc

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Moll, Matthew, Victoria E. Jackson, Bing Yu, et al. "A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease." American Journal of Physiology-Lung Cellular and Molecular Physiology 321, no. 1 (2021): L130—L143. http://dx.doi.org/10.1152/ajplung.00009.2021.

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Genome-wide association studies (GWASs) have identified regions associated with chronic obstructive pulmonary disease (COPD). GWASs of other diseases have shown an approximately 10-fold overrepresentation of nonsynonymous variants, despite limited exonic coverage on genotyping arrays. We hypothesized that a large-scale analysis of coding variants could discover novel genetic associations with COPD, including rare variants with large effect sizes. We performed a meta-analysis of exome arrays from 218,399 controls and 33,851 moderate-to-severe COPD cases. All exome-wide significant associations

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Alfimova, Margarita, Nikolay Kondratyev, Galina Korovaitseva, et al. "A Role of DNA Methylation within the CYP17A1 Gene in the Association of Genetic and Environmental Risk Factors with Stress-Related Manifestations of Schizophrenia." International Journal of Molecular Sciences 23, no. 20 (2022): 12629. http://dx.doi.org/10.3390/ijms232012629.

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As genetic and environmental influences on schizophrenia might converge on DNA methylation (DNAm) within loci which are both associated with the disease and implicated in response to environmental stress, we examined whether DNAm within CYP17A1, a hypothalamus–pituitary–adrenal axis gene which is situated within the schizophrenia risk locus 10q24.32, would mediate genetic and environmental effects on stress-related schizophrenia symptoms. DNAm within an exonic–intronic fragment of CYP17A1 was assessed in the blood of 66 schizophrenia patients and 63 controls using single-molecule real-time bis

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Salilew-Wondim, D., M. Hoelker, U. Besenfelder, et al. "199 IN VITRO-DEVELOPED BOVINE BLASTOCYSTS ARE MARKED WITH ABERRANT HYPER- AND HYPO-METHYLATED GENOMIC REGIONS." Reproduction, Fertility and Development 27, no. 1 (2015): 190. http://dx.doi.org/10.1071/rdv27n1ab199.

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Most often, in vitro produced embryos display poor quality and altered gene expression patterns compared to their in vivo counterparts. Aberrant DNA methylation occurring during in vitro embryo development is believed to be one of the multifaceted factors which may cause altered gene expression and poor embryo quality. Here, we investigated the genome-wide DNA methylation patterns of in vitro derived embryos using the recently developed Bovine EmbryoGENE Methylation Platform (BEGMP) array (Shojaei Saadi et al. BMC Genomics 2014 15, 451. doi: 10.1186/1471-2164-15-451) to unravel the aberrantly

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Franzini, Anca, Jamshid S. Khorashad, Hein Than, et al. "Molecular Alterations in Chronic Myelomonocytic Leukemia Monocytes: Transcriptional and Methylation Profiling." Blood 132, Supplement 1 (2018): 3889. http://dx.doi.org/10.1182/blood-2018-99-115077.

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Abstract Chronic myelomonocytic leukemia (CMML) is a genetically heterogeneous hematopoietic stem cell disorder that combines features of a myelodysplastic syndrome and a myeloproliferative neoplasm and exhibits a strong bias towards older age. The prognosis of CMML is poor, with overall survival of less than 3 years in most studies, however recurrent somatic mutations explain only 15-24% of the clinical heterogeneity of CMML (Elena C. et al. Blood 128:1408-17, 2016). The extreme skewing of the CMML age distribution suggests that CMML reflects the malignant conversion of the myelomonocytic-bia

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Anas, Muhammad, Alison K. Ward, Kacie L. McCarthy, et al. "131 DNA methylation profile in bovine fetal liver is affected by maternal vitamin and mineral supplementation during early gestation." Journal of Animal Science 102, Supplement_2 (2024): 54–55. http://dx.doi.org/10.1093/jas/skae102.063.

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Abstract Early gestation is the critical period for successful pregnancy establishment. During this period, maternal nutrition affects fetal development with potentially long-lasting consequences on offspring performance. Despite the known effects of vitamins and minerals on embryonic development, supplementation is still not a widely adopted practice. Here we focused on the effects of maternal vitamin and mineral supplementation from pre-breeding to d 83 of gestation. We hypothesized that the DNA methylation pattern of genes involved with fetal hepatic metabolism and function would be altered

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Walker, Brian A., Paola E. Leone, Nicholas J. Dickens, et al. "UTX, a Histone Demethylase, Is Inactivated through Homozygous Deletion, Mutation, and DNA Methylation in Multiple Myeloma." Blood 114, no. 22 (2009): 1798. http://dx.doi.org/10.1182/blood.v114.22.1798.1798.

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Abstract Abstract 1798 Poster Board I-824 Histone modifications are known to mediate transcriptional regulation through changes in chromatin condensation and as such can lead to aberrant transcriptional patterns resulting in malignant transformation. Modulation of chromatin structure via histone modification is becoming recognised as an important pathogenic mechanism in myeloma and has been suggested by the over-expression of MMSET, a histone methyltransferase, by the t(4;14) chromosomal rearrangement. More recently inactivation of UTX, a histone demethylase, has also been suggested to have a

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Zampini, Matteo, Claudia Tregnago, Valeria Bisio, et al. "Dna Methylation Is Linked to a Specific Cell-Adhesion Program in Relapsed Pediatric t(8;21)(q22;q22)RUNX1-RUNX1T1 Patients." Blood 128, no. 22 (2016): 1524. http://dx.doi.org/10.1182/blood.v128.22.1524.1524.

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Abstract t(8;21)(q22;q22)RUNX1-RUNX1T1 is a recurrent somatic lesion detected at diagnosis in approximately 12-15% of children with acute myeloid leukemia (AML). Children with this isolated translocation are usually considered at standard risk, but our last multicenter trial revealed a higher than expected cumulative incidence of relapse for these patients1. Genetic and epigenetic heterogeneity is emerging as a fundamental property of AML in the context of the clonal architecture dynamic evolution. In view of this observation, we hypothesized that within t(8;21) patients there may coexist a co

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Hakimi, A. Ari, Irina Ostrovnaya, Anders Jacobsen, et al. "Validation and genomic interrogation of the MET variant rs11762213 as a predictor of adverse outcomes in clear cell renal cell carcinoma." Journal of Clinical Oncology 32, no. 4_suppl (2014): 395. http://dx.doi.org/10.1200/jco.2014.32.4_suppl.395.

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395 Background: The exonic single nucleotide variant rs11762213 located in the METoncogene has recently been identified as a prognostic marker in clear cell renal cell carcinoma (ccRCC) (Schutz et al, Lancet Oncol 2013). We sought to validate this finding and explore the biologic implications using The Cancer Genome Atlas (TCGA) cohort. Methods: The variant call file (VCF) and expression data was available for 272 patients. We then extracted the data for rs11762213 as follows for the "normal" sample: allelic fraction for variant allele > 80% is homozygous variant while allelic fraction for

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Werner, Jordan, Hiba Siddiqui, Samiha Syed, Osman Khan, Servando Casillas Garabito, and James D. Fackenthal. "Abstract 1735: DNA demethylating agents have cell type-specific effects on viability and BRCA2 alternative splicing." Cancer Research 84, no. 6_Supplement (2024): 1735. http://dx.doi.org/10.1158/1538-7445.am2024-1735.

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Abstract Introduction: BRCA2 is one of two principal tumor suppressors responsible for hereditary breast/ovarian cancer syndrome (HBOC). Patients with strong family histories of breast/ovarian cancer may carry BRCA2 DNA sequence variants of unknown clinical significance (VUSs). To evaluate which of these VUSs may contribute to cancer risk by altering splicing patterns, naturally occurring BRCA2 mRNA alternate splicing events have been extensively characterized, but it is not yet known which if any of these alternate splicing events plays a role in BRCA2 function. One variant lacking exon 3 (∆3

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Zhang, Xu, Jihyun Song, Binal N. Shah, et al. "Hypoxic Response-Dependent Genetic Regulation Revealed By Allele-Specific Expression in Reticulocytes of Chuvash Polycythemia." Blood 130, Suppl_1 (2017): 926. http://dx.doi.org/10.1182/blood.v130.suppl_1.926.926.

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Abstract Homozygosity for the VHLR200W mutation in Chuvash polycythemia (CP) leads to decreased degradation of the α subunits of hypoxia inducible factor (HIF)-1 and HIF-2 by the hypomorphic variant of VHL, the principal negative regulator of HIFs. The constitutively activated HIFs directly regulate the transcription of a suite of hypoxic responsible genes, including the principal regulators of erythropoiesis, vessel development, and glycolytic metabolism, which further trigger a downstream cascade of gene expression. Besides these transcriptional factors, cis acting elements play an important

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Pollyea, Daniel A., Aparna Raval, Brenda Kusler, Jason R. Gotlib, Ash A. Alizadeh, and Beverly S. Mitchell. "A Novel Missense Mutation In An MDS Patient and Effects on TET2 mRNA Expression and Clinical Outcomes." Blood 116, no. 21 (2010): 1889. http://dx.doi.org/10.1182/blood.v116.21.1889.1889.

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Abstract Abstract 1889 Introduction The ten-eleven translocation 2 (TET2) gene has recently been recognized to be mutated at a relatively high frequency in all myeloid malignancies, representing a compelling unifying feature of these related but phenotypically distinct conditions. The TET2 paralog TET1 catalyzes the conversion of 5-methylcytosine to 5-hydroxymethylcytosine; TET2 shares a homologous domain thought to catalyze this conversion, and is hypothesized to act as a tumor suppressor gene (TSG) by regulating DNA methylation and epigenetic control of gene expression at critical loci impor

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Postnikova, Liubov A., Ekaterina M. Noniashvili, Irina O. Suchkova, Tatyana V. Baranova, and Eugene L. Patkin. "The influence of exogenic lactoferrin on DNA methylation in postimplantation mouse embryos developed from zygotes exposed to bisphenol A." Medical academic journal 22, no. 4 (2023): 45–56. http://dx.doi.org/10.17816/maj109416.

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BACKGROUND: Bisphenol A is a chemical agent ubiquitous in plastic consumer products and a toxin capable of disrupting key epigenetic mechanisms in early embryogenesis. It becomes more and more clear that early development changes in epigenetic pathways caused by exposure to toxic substances are associated with various adult diseases. Therefore the need to identify new agents capable of eliminating epigenetic mechanisms failures caused by the bisphenol A toxin becomes evident. Here we suggest lactoferrin as a normalizer of toxicant-induced epigenomic changes. Currently there is no data on the r

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Ridout, Kate E., Pauline Robbe, Doriane Cavalieri, et al. "Highly Comprehensive Genomic Testing for CLL: WGS, One Key to CLL Patient Stratification." Blood 132, Supplement 1 (2018): 3115. http://dx.doi.org/10.1182/blood-2018-99-115935.

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Abstract Background Chronic Lymphocytic Leukemia (CLL) is characterised by a highly heterogeneous natural history and treatment response. Indeed, 50% of immunoglobulin heavy chain variable region (IgHV) hypermutated patients have an excellent progression free survival (PFS) after chemoimmunotherapy. Conversely, 25% of FCR treated patients relapse within 24 months (high risk CLL). Recent studies have shown that complex karyotype with or without TP53 disruption predicts for relapse after BCL2 therapy and BTK inhibitors. However, TP53 is the only marker for which routine testing is available. Ove

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He, Shou-Pu, Jun-Ling Sun, Chao Zhang, and Xiong-Ming Du. "Identification of exotic genetic components and DNA methylation pattern analysis of three cotton introgression lines from Gossypium bickii." Molecular Biology 45, no. 2 (2011): 204–10. http://dx.doi.org/10.1134/s002689331102018x.

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Visconte, Valeria, Bartlomiej P. Przychodzen, Steffan T. Nawrocki, et al. "Genetic and Epigenetic Defects in the Autophagy Machinery in Myelodysplastic Syndromes." Blood 128, no. 22 (2016): 4301. http://dx.doi.org/10.1182/blood.v128.22.4301.4301.

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Abstract Autophagy is a degradation process for the turnover of damaged organelles and long-lived proteins that also plays an important role during erythropoiesis. Accordingly, knockout of the essential autophagy gene Atg7 in mice leads to clinico-morphologic features of MDS. To date, no study has determined the prevalence and impact of defects (mutations, aberrant expression) in the autophagy machinery in MDS. We interrogated the occurrence of alterations in 180 autophagy genes by analyzing WES of patients with MDS (N=120). For comparison, we analyzed results from other hematologic neoplasms

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Alfaham, Manar S., Syed Osman Ahmed, Nogayhan Seymen, et al. "Saudi Acute Myeloid Leukaemia (AML) Genome Reveals Significant Differences from That in the Western Population." Blood 144, Supplement 1 (2024): 4231. https://doi.org/10.1182/blood-2024-205025.

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Introduction AML genome in the western populations has provided pathogenetic insights, prognosticators and selection of appropriate therapies. AML genome in the Middle East may differ from that in the west, because of younger population, racial, environmental and cultural factors including high consanguinity. We report for the first time, Whole Genome Sequencing (WGS) results in AML patients treated at the King Faisal Specialist Hospital and Research Centre in Riyadh, Saudi Arabia. The study was approved by KFSHRC ethics committee. Method The clinical data of 786 adult AML patients (18-89 year

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Wu, Zhoulin, Xiaoyu Li, Maoqin Xu, Chaoqing Qiu, and Anyong Ren. "Analyses of Allele Expression and DNA Methylation Status of Yak (Bos grunniens) PMM2 Gene in Tissues." Indian Journal of Animal Research, Of (May 14, 2025). https://doi.org/10.18805/ijar.bf-1892.

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Background: Imprinted genes are closely related to mammalian development, growth and behavior. To date more than 150 imprinted genes have been identified in human and mice but only a very limited number of imprinted genes have been reported in bovine. A novel gene PMM2 was identified as paternally imprinted in cattle (Bos taurus), but little is known about its expression pattern in yak (Bos grunniens). The aim of the present study was to investigate the imprinting status as well as expression levels of PMM2 gene in yak tissues and to determine whether DNA methylation would play a role in its e

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Ribeiro, André Mauric F., Leticia P. Sanglard, Hiruni R. Wijesena, Daniel C. Ciobanu, Steve Horvath, and Matthew L. Spangler. "DNA methylation profile in beef cattle is influenced by additive genetics and age." Scientific Reports 12, no. 1 (2022). http://dx.doi.org/10.1038/s41598-022-16350-9.

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AbstractDNA methylation (DNAm) has been considered a promising indicator of biological age in mammals and could be useful to increase the accuracy of phenotypic prediction in livestock. The objectives of this study were to estimate the heritability and age effects of site-specific DNAm (DNAm level) and cumulative DNAm across all sites (DNAm load) in beef cattle. Blood samples were collected from cows ranging from 217 to 3,192 days (0.6 to 8.7 years) of age (n = 136). All animals were genotyped, and DNAm was obtained using the Infinium array HorvathMammalMethylChip40. Genetic parameters for DNA

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Wu, Hao, Wendi Zhou, Haijun Liu, et al. "Whole-genome methylation analysis reveals epigenetic variation between wild-type and nontransgenic cloned, ASMT transgenic cloned dairy goats generated by the somatic cell nuclear transfer." Journal of Animal Science and Biotechnology 13, no. 1 (2022). http://dx.doi.org/10.1186/s40104-022-00764-6.

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Abstract Background SCNT (somatic cell nuclear transfer) is of great significance to biological research and also to the livestock breeding. However, the survival rate of the SCNT cloned animals is relatively low compared to other transgenic methods. This indicates the potential epigenetic variations between them. DNA methylation is a key marker of mammalian epigenetics and its alterations will lead to phenotypic differences. In this study, ASMT (acetylserotonin-O-methyltransferase) ovarian overexpression transgenic goat was produced by using SCNT. To investigate whether there are epigenetic d

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Nagae, Genta, Shogo Yamamoto, Masashi Fujita, et al. "Genetic and epigenetic basis of hepatoblastoma diversity." Nature Communications 12, no. 1 (2021). http://dx.doi.org/10.1038/s41467-021-25430-9.

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AbstractHepatoblastoma (HB) is the most common pediatric liver malignancy; however, hereditary predisposition and acquired molecular aberrations related to HB clinicopathological diversity are not well understood. Here, we perform an integrative genomic profiling of 163 pediatric liver tumors (154 HBs and nine hepatocellular carcinomas) based on the data acquired from a cohort study (JPLT-2). The total number of somatic mutations is precious low (0.52/Mb on exonic regions) but correlated with age at diagnosis. Telomerase reverse transcriptase (TERT) promoter mutations are prevalent in the twee

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Meulemans, Laëtitia, Stéphanie Baert Desurmont, Marie-Christine Waill, et al. "Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations." Journal of Medical Genetics, September 16, 2022, jmedgenet—2022–108576. http://dx.doi.org/10.1136/jmg-2022-108576.

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BackgroundSpliceogenic variants in disease-causing genes are often presumed pathogenic since most induce frameshifts resulting in loss of function. However, it was recently shown in cancer predisposition genes that some may trigger in-frame anomalies that preserve function. Here, we addressed this question by using MSH2, a DNA mismatch repair gene implicated in Lynch syndrome, as a model system.MethodsEighteen MSH2 variants, mostly localised within canonical splice sites, were analysed by using minigene splicing assays. The impact of the resulting protein alterations was assessed in a methylat

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AHLAWAT, SONIKA, NEHA SAROVA, REKHA SHARMA, REENA ARORA, and M. S. TANTIA. "Promoter DNA methylation and expression analysis of PIWIL1 gene in purebred and crossbred cattle bulls." Indian Journal of Animal Sciences 89, no. 7 (2019). http://dx.doi.org/10.56093/ijans.v89i7.92014.

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Major credit for India being the largest producer of milk in the world, goes to crossbred cows produced by inseminating low-producing indigenous cattle with semen from high producing exotic bulls. However, over the years, the policy of crossbreeding has been confronted with a major problem of subfertility in crossbred male progenies, culminating into disposal of a major fraction of mature bulls. Many studies have demonstrated relationship between epigenetic alterations and male fertility across different species. PIWIL1 is an important candidate gene for spermatogenesis and germ line developme

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Cui, Can, Zhen Wang, Yingjuan Su, and Ting Wang. "Antioxidant Regulation and DNA Methylation Dynamics During Mikania micrantha Seed Germination Under Cold Stress." Frontiers in Plant Science 13 (April 8, 2022). http://dx.doi.org/10.3389/fpls.2022.856527.

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As a primary goal, adaptation to cold climate could expand an invasion range of exotic plants. Here, we aimed to explore the regulation strategy of M. micrantha seed development under cold stress through molecular physiology and multi-omics analysis. Significant increase of hydrogen peroxide, malondialdehyde, and electrolyte leakage observed under cold stress revealed that oxidative damage within M. micrantha seed cells was induced in the initial germination phase. Proteomic data underscored an activation of antioxidant activity to maintain redox homeostasis, with a cluster of antioxidant prot

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Liu, Ling, Hai Nguyen, Urmi Das, et al. "Epigenetic control of adaptive or homeostatic splicing during interval-training activities." Nucleic Acids Research, April 25, 2024. http://dx.doi.org/10.1093/nar/gkae311.

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Abstract Interval-training activities induce adaptive cellular changes without altering their fundamental identity, but the precise underlying molecular mechanisms are not fully understood. In this study, we demonstrate that interval-training depolarization (ITD) of pituitary cells triggers distinct adaptive or homeostatic splicing responses of alternative exons. This occurs while preserving the steady-state expression of the Prolactin and other hormone genes. The nature of these splicing responses depends on the exon's DNA methylation status, the methyl-C-binding protein MeCP2 and its associa

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