Alterações moleculares em síndrome mielodisplásica Molecular abnormalities in myelodysplastic syndrome by Maria de Lourdes L. F. Chauffaille

“…There is a high risk of MDS when p15INK4B is inactivated due to hypermethylation of its promoter. Telomere shortening correlates with complex karyotypes indicating genomic instability and poor prognosis.…”
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Analysis of Repair Mechanisms following an Induced Double-Strand Break Uncovers Recessive Deleterious Alleles in the <named-content content-type="genus-species">Candida albicans</n... by Adeline Feri, Raphaël Loll-Krippleber, Pierre-Henri Commere, Corinne Maufrais, Natacha Sertour, Katja Schwartz, Gavin Sherlock, Marie-Elisabeth Bougnoux, Christophe d’Enfert, Mélanie Legrand

“…Upon I-SceI induction, we detected a strong increase in the frequency of LOH events at an I-SceI target locus positioned on chromosome 4 (Chr4), including events spreading from this locus to the proximal telomere. Characterization of the repair events by single nucleotide polymorphism (SNP) typing and whole-genome sequencing revealed a predominance of gene conversions, but we also observed mitotic crossover or break-induced replication events, as well as combinations of independent events. …”
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Combined alteration of lamin and nuclear morphology influences the localization of the tumor-associated factor AKTIP by Mattia La Torre, Chiara Merigliano, Klizia Maccaroni, Alexandre Chojnowski, Wah Ing Goh, Maria Giubettini, Fiammetta Vernì, Cristina Capanni, Daniela Rhodes, Graham Wright, Brian Burke, Silvia Soddu, Romina Burla, Isabella Saggio

“…Abstract Background Lamins, key nuclear lamina components, have been proposed as candidate risk biomarkers in different types of cancer but their accuracy is still debated. AKTIP is a telomeric protein with the property of being enriched at the nuclear lamina. …”
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Higher plasma levels of thymosin-α1 are associated with a lower waning of humoral response after COVID-19 vaccination: an eight months follow-up study in a nursing home by María del Mar Pozo-Balado, Ángel Bulnes-Ramos, Israel Olivas-Martínez, Vanesa Garrido-Rodríguez, Carmen Lozano, Ana I. Álvarez-Ríos, Berta Sánchez-Sánchez, Encarnación Sánchez-Bejarano, Isabel Maldonado-Calzado, José Manuel Martín-Lara, Juan Antonio Santamaría, Rafael Bernal, María Francisca González-Escribano, Manuel Leal, Yolanda M. Pacheco

“…Thymic-related functional markers, including thymic output, relative telomere length, and plasma thymosin-α1 levels, as well as immune cellular subsets, and biochemical and inflammatory biomarkers, were determined at T1, and tested for their associations with the magnitude of the vaccine response (T1) and the durability of such response both, at the short- (T1-T4) and the long-term (T1-T8). …”
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The Effects of Weaning Methods on Gut Microbiota Composition and Horse Physiology by Núria Mach, Aline Foury, Sandra Kittelmann, Fabrice Reigner, Marco Moroldo, Maria Ballester, Diane Esquerré, Julie Rivière, Guillaume Sallé, Philippe Gérard, Marie-Pierre Moisan, Léa Lansade

“…Most genera in community type 2 (i.e., Eubacterium, Coprococcus, Clostridium XI, and Blautia spp.) were negatively correlated with salivary cortisol levels, but positively correlated with telomere length and N-butyrate production. Average daily gain was also greater in the foals harboring a community type 2 microbiota. …”
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De Novo Assembly of Plasmodium knowlesi Genomes From Clinical Samples Explains the Counterintuitive Intrachromosomal Organization of Variant SICAvar and kir Multiple Gene Family Me... by Damilola R. Oresegun, Peter Thorpe, Ernest Diez Benavente, Susana Campino, Fauzi Muh, Robert William Moon, Taane Gregory Clark, Taane Gregory Clark, Janet Cox-Singh

“…Highly evolving genes including PfEMP1family members tend to be restricted to relatively unstable sub-telomeric regions that drive change with core genes protected in genetically stable intrachromosomal locations. …”
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Heterogenous Differences in Cellular Senescent Phenotypes in Pre-Eclampsia and IUGR following Quantitative Assessment of Multiple Biomarkers of Senescence by Samprikta Manna, Colm J. Mc Elwain, Gillian M. Maher, Marta Giralt Martín, Andrea Musumeci, Fergus P. McCarthy, Cathal McCarthy

“…Maternal plasma and placental samples were collected at term gestation from nulliparous women undergoing pre-labour elective caesarean section with pre-eclampsia without intrauterine growth restriction (PE; <i>n</i> = 5), pre-eclampsia associated with intrauterine growth restriction (n = 8), intrauterine growth restriction (IUGR < 10th centile; <i>n</i> = 6), and age-matched controls (<i>n</i> = 20). Placental absolute telomere length and senescence gene analysis was performed by RTqPCR. …”
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The evolution of mini-chromosomes in the fungal genus Colletotrichum by Haoming Wang, Rong Huang, Jingyi Ren, Lihua Tang, Suiping Huang, Xiaolin Chen, Jun Fan, Bintao Li, Qinhu Wang, Tom Hsiang, Huiquan Liu, Qili Li

“…Half of the assembled scaffolds had telomeric repeats at both ends indicating full-length chromosomes. …”
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Elucidating individual differences in chronic pain and whole person health with allostatic load biomarkers by Angela M. Mickle, Jared J. Tanner, Bankole Olowofela, Stanley Wu, Cynthia Garvan, Song Lai, Adriana Addison, Rene Przkora, Jeffrey C. Edberg, Roland Staud, David Redden, Burel R. Goodin, Catherine C. Price, Roger B. Fillingim, Kimberly T. Sibille

“…We and others have shown chronic pain is associated with measures of allostatic load including clinical biomarker composites, telomere length, and brain structures. Less is known regarding how different measures of allostatic load align. …”
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A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication by T. V. Karamysheva, T. V. Karamysheva, I. N. Lebedev, I. N. Lebedev, L. I. Minaycheva, L. P. Nazarenko, L. P. Nazarenko, A. A. Kashevarova, D. A. Fedotov, N. A. Skryabin, M. E. Lopatkina, A. D. Cheremnykh, E. A. Fonova, E. A. Fonova, T. V. Nikitina, E. A. Sazhenova, M. M. Skleimova, N. A. Kolesnikov, G. V. Drozdov, Y. S. Yakovleva, Y. S. Yakovleva, G. N. Seitova, K. E. Orishchenko, K. E. Orishchenko, N. B. Rubtsov, N. B. Rubtsov

“…In contrast to the classical i(12)(p10) for PKS, the patient’s cells contained an acrocentric chromosome consisting of 12p material. Clusters of telomeric repeats were found at the both ends of the sSMC. …”
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Autophagy-dependent cell cycle arrest in esophageal cancer cells exposed to dihydroartemisinin by Qiang Ma, Hebin Liao, Lei Xu, Qingrong Li, Jiang Zou, Ru Sun, Dan Xiao, Chang Liu, Wenjie Pu, Jibing Cheng, Xi Zhou, Guangcheng Huang, Lihua Yao, Xiaowu Zhong, Xiaolan Guo

“…Furthermore, we found that telomere shelterin component TRF2 was down-regulated in Eca109 cells exposed to DHA through autophagy-dependent degradation, which could be rescued after autophagy was blocked by ROS inhibition. …”
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Establishment and validation of exhausted CD8+ T cell feature as a prognostic model of HCC by Jihang Shi, Jihang Shi, Jihang Shi, Guangya Li, Guangya Li, Lulu Liu, Lulu Liu, Xiandun Yuan, Yafei Wang, Yafei Wang, Yafei Wang, Ming Gong, Ming Gong, Ming Gong, Chonghui Li, Chonghui Li, Xinlan Ge, Xinlan Ge, Shichun Lu, Shichun Lu

“…We hope to establish a risk model based on Tex-related genes for HCC prognosis.MethodsTex-related GEO datasets from different pathologic factors (chronic HBV, chronic HCV, and telomere shortening) were analyzed respectively to acquire differentially expressed genes (DEGs) by the ‘limma’ package of R. …”
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Cytogenetic variability among Bradyporinae species (Orthoptera: Tettigoniidae) by Elżbieta WARCHAŁOWSKA-ŚLIWA, Beata GRZYWACZ, Anna MARYAŃSKA-NADACHOWSKA, Tatyana V. KARAMYSHEVA, Dragan P. CHOBANOV, Klaus-Gerhard HELLER

“…Chromosomes of six European species (one with two subspecies) of Orthoptera belonging to the tribes Ephippigerini and Bradyporini were analyzed using C-banding, Ag-NOR, DAPI (AT-rich)/CMA3 (GC-rich) staining and fluorescence in situ hybridization (FISH) using the 18S rDNA and (TTAGG)n telomeric probes with the aim to better understand chromosomal organization and evolutionary relationships between genera and subgenera within and across both tribes. …”
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Epigenetic mechanism of Gtl2-miRNAs causes the primitive sheep characteristics found in purebred Merino sheep by Jiankui Wang, Guoying Hua, Jianfei Chen, Kai Cui, Zu Yang, Deping Han, Xue Yang, Xianggui Dong, Yuhao Ma, Ganxian Cai, Yuanyuan Zhang, Jinnan Li, Yurong Tai, Lai Da, Xinhai Li, Lina Ma, Qing Ma, Rui Li, Jianbin Liu, Hesham Y. A. Darwish, Keliang Wu, Weiheng Rong, Wansheng Liu, Yaofeng Zhao, Xuemei Deng

“…Transcriptomic SNP analysis indicated that the ALC phenotype was localized to the imprinted Gtl2-miRNAs locus, and a significant correlation was found between the ALC wool type and a newly identified short Interstitial Telomeric Sequences (s-ITSs) at this locus. We further confirmed that a novel 38-nt small RNA transcribed from these s-ITSs, in combination with the previously reported 22-nt small RNAs cluster from the Gtl2-miRNAs locus, synergistically inhibited PI3K/AKT/Metabolic/Oxidative stress and subsequent apoptotic pathways in wool follicle stem cells, resulting in the ALC wool type. …”
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Cardiac Myxoma by Vera Demarchi Aiello, Fernando Peixoto Ferraz de Campos

“…Chromosomal clonal abnormalities, mostly on chromosome 2, 12, and 17, appear to be implicated in the myxoma formation, although defects on chromosome 1q32, the loss of the Y chromosome, and the telomeric association of chromosome 13 and 15, have also been involved.12-14 CMs are mostly pedunculated and solitary, and arise primarily adjacent to the lamina of the fossa ovalis (corresponding to the embryonic septum primum) and develop in the left atrium in 75% of cases, followed by the right atrium (18%),15 the right and left ventricles (3% in each), and the valves (1%).15-20 Multiple myxomas represent 5% of the cases, half of which are of bilateral origin.21 Although CM is a benign tumor, reports on its malignancy are well-known, which include: (i) local relapse; (ii) local invasiveness; and (iii) distant metastasis.12 The potential for malignant transformation is controversial, despite the publication of some reports of sarcomas arising from CM recurrences.22,23 Clinical manifestations of CMs are protean and may vary from asymptomatic cases (with a tumor < 4 cm) to unexpected sudden death (generally caused by blood flow obstruction or embolization). …”
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GenoTypeMapper: graphical genotyping on genetic and sequence-based maps by Mathieu Deblieck, Andrii Fatiukha, Norbert Grundman, Lianne Merchuk-Ovnat, Yehoshua Saranga, Tamar Krugman, Klaus Pillen, Albrecht Serfling, Wojciech Makalowski, Frank Ordon, Dragan Perovic

“…Genetic maps are a very important tool for breeders but often represent distorted models of the actual chromosomes, e.g., in centromeric and telomeric regions. This biased picture might lead to imprecise assumptions and estimations about the size and complexity of genetic regions and the selection of suitable molecular markers for the incorporation of traits in breeding populations or near-isogenic lines (NILs). …”
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Fragile sites, chromosomal lesions, tandem repeats, and disease by Mila Mirceta, Mila Mirceta, Natalie Shum, Natalie Shum, Monika H. M. Schmidt, Monika H. M. Schmidt, Christopher E. Pearson, Christopher E. Pearson

“…Ribosomal repeats and subtelomeric D4Z4 megasatellites/macrosatellites, are associated with chromosome location, fragility, and disease. Telomere repeats can also assume fragile sites. Dietary deficiencies of folate or vitamin B12, or drug insults are associated with megaloblastic and/or pernicious anemia, that display chromosomes with fragile sites. …”
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Promoting health and productivity among ageing workers: a longitudinal study on work ability, biological and cognitive age in modern workplaces (PROAGEING study) by Matteo Bonzini, Anna Comotti, Alice Fattori, Daniele Serra, Marco Laurino, Francesca Mastorci, Pasquale Bufano, Catalina Ciocan, Luca Ferrari, Valentina Bollati, Cristina Di Tecco

“…Data collection includes information about: (a) work ability and psychosocial risk factors (work ability index, HSE Management Standard-21 item, Utrecht Work Engagement Scale, World Health Organisation-Five, Well-Being Index, job satisfaction, general well-being, technostress); (b) cognitive skills (Stroop Color and Word test, Simon task, Corsi’s block-tapping test, Digit span test); (c) sleep habits and psychological well-being (Pittsburgh Sleep Quality Index, Insomnia Severity Index, Ford Insomnia Response to Stress Test; Symptom Check List 90, Psychological Well-Being Index, Profile of Mood State, Beck Depression Inventory, Beck Anxiety Inventory, Perceived Stress Scale, Brief COPE); (d) biological age (telomere length, DNA methylation) for 500 workers. …”
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Genetic association study of <it>synphilin-1 </it>in idiopathic Parkinson's disease by Farrer Matthew J, Klungland Helge, Myhre Ronny, Aasly Jan O

“…D5S2010 the most distal telomeric microsatellite marker genotyped,15.3 Mb from <it>synphilin-1</it>, was genetically associated with PD (p = 0.006, 27df) independently adjusted for multiple testing according to its high amount of alleles but not the total number of other markers investigated. …”
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DNA I-motif : application to epigenetics and biosensing. by Xu, Baochang

“…The fact that i-motif folding sequences are widely present in oncogenic regions and human telomeric DNA suggests that the formation of i-motif may be associated with the regulation of oncogene expression. …”
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