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https://www.readbyqxmd.com/read/29776440/radiological-pleuroparenchymal-fibroelastosis-associated-to-limited-cutaneous-systemic-sclerosis-a-case-report
#1
D Hassoun, S Dirou, P P Arrigoni, C Durant, M Hamidou, A Néel, C Agard
BACKGROUND: Pleuroparenchymal fibroelastosis (PPFE) is a very rare interstitial lung disease (ILD) characterized by progressive fibrotic lesions of the visceral pleura and the sub-pleural parenchyma, affecting predominantly the upper lobes. PPFE may occur in different contextes like bone marrow or lung transplantations, but also in the context of telomeropathy with mutations of telomerase reverse transcriptase (TERT), telomerase RNA component (TERC) or regulator of telomere elongation helicase 1 (RTEL1) genes...
May 18, 2018: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/29751586/telomere-maintenance-mechanisms-in-cancer
#2
REVIEW
Tiago Bordeira Gaspar, Ana Sá, José Manuel Lopes, Manuel Sobrinho-Simões, Paula Soares, João Vinagre
Tumour cells can adopt telomere maintenance mechanisms (TMMs) to avoid telomere shortening, an inevitable process due to successive cell divisions. In most tumour cells, telomere length (TL) is maintained by reactivation of telomerase, while a small part acquires immortality through the telomerase-independent alternative lengthening of telomeres (ALT) mechanism. In the last years, a great amount of data was generated, and different TMMs were reported and explained in detail, benefiting from genome-scale studies of major importance...
May 3, 2018: Genes
https://www.readbyqxmd.com/read/29742735/a-case-report-of-heterozygous-tinf2-gene-mutation-associated-with-pulmonary-fibrosis-in-a-patient-with-dyskeratosis-congenita
#3
Hongchun Du, Yubiao Guo, Di Ma, Kejing Tang, Decheng Cai, Yifeng Luo, Canmao Xie
RATIONALE: Dyskeratosis congenita (DC) is a rare inherited disease characterized by the classical mucocutaneous triad. Pulmonary fibrosis, bone marrow failure, and solid tumors are the main causes of mortality in DC. Pathogenic variants in TERT, TERC, and DKC1 have been identified in individuals with familial pulmonary fibrosis. Mutations in TINF2 gene have been reported to be associated with bone marrow failure in most cases. However, the relationship between TINF2 mutation and pulmonary fibrosis is not yet clear...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29698462/terc-is-dispensable-for-most-of-the-short-term-hpv16-oncogene-mediated-phenotypes-in-mice
#4
Charis Achilleos, Stella Michael, Katerina Strati
High-risk human papillomaviruses (HPVs) have been shown in vitro to impinge on telomere homeostasis in a number of ways. However, the in vivo interaction of viruses with the telomere homeostasis apparatus has not been previously explored. Since E6 and E7 are the main viral oncogenes and key for viral replication, we have explored here the short-term phenotypes of the genes in the context of defective telomere homeostasis. We examined the short-term phenotypes of E6 and E7 in a context where the Terc component of the telomerase holoenzyme was knocked out...
2018: PloS One
https://www.readbyqxmd.com/read/29669292/parn-and-toe1-constitute-a-3-end-maturation-module-for-nuclear-non-coding-rnas
#5
Ahyeon Son, Jong-Eun Park, V Narry Kim
Poly(A)-specific ribonuclease (PARN) and target of EGR1 protein 1 (TOE1) are nuclear granule-associated deadenylases, whose mutations are linked to multiple human diseases. Here, we applied mTAIL-seq and RNA sequencing (RNA-seq) to systematically identify the substrates of PARN and TOE1 and elucidate their molecular functions. We found that PARN and TOE1 do not modulate the length of mRNA poly(A) tails. Rather, they promote the maturation of nuclear small non-coding RNAs (ncRNAs). PARN and TOE1 act redundantly on some ncRNAs, most prominently small Cajal body-specific RNAs (scaRNAs)...
April 17, 2018: Cell Reports
https://www.readbyqxmd.com/read/29596117/multiple-solid-organ-transplantation-in-telomeropathy-case-series-and-literature-review
#6
Marnix Lebeer, Wim A Wuyts, David Cassiman, Wim Laleman, Frederik Nevens, Jacques Pirenne, Diethard Monbaliu, Tania Roskams, Eric K Verbeken, Arne P Neyrinck, Dirk E Van Raemdonck, Geert M Verleden, Robin Vos
BACKGROUND: Solid organ transplantation is a valid treatment option for selected patients with organ failure due to an underlying telomeropathy, however, feasibility of multiple-organ transplantation if several organs are compromised is unclear. METHODS: We describe 2 patients with telomeropathy due to heterozygous TERC or TERT mutation, who successfully underwent serial or combined liver and lung transplantation for concurrent liver fibrosis/cirrhosis and pulmonary fibrosis...
March 29, 2018: Transplantation
https://www.readbyqxmd.com/read/29590618/telomere-dysfunction-disturbs-macrophage-mitochondrial-metabolism-and-the-nlrp3-inflammasome-through-the-pgc-1%C3%AE-tnfaip3-axis
#7
Yanhua Kang, Hang Zhang, Yufang Zhao, Yan Wang, Wei Wang, Yan He, Wei Zhang, Weiwei Zhang, Xudong Zhu, Yong Zhou, Lingling Zhang, Zhenyu Ju, Liyun Shi
Immune and inflammation dysregulation have been associated with the aging process and contribute to age-related disorders, but the underlying mechanism remains elusive. Here, we employed late-generation Terc knockout (Terc-/- ) mice to investigate the impact of telomere dysfunction on the host defense and function of innate immune cells. Terc-/- mice displayed exaggerated lung inflammation and increased mortality upon respiratory staphylococcal infection, although their pathogen-clearing capacity was uncompromised...
March 27, 2018: Cell Reports
https://www.readbyqxmd.com/read/29577353/determination-of-topiramate-by-capillary-electrophoresis-with-capacitively-coupled-contactless-conductivity-detection-a-powerful-tool-for-therapeutic-monitoring-in-epileptic-patients
#8
Aline Akemi Ishikawa, Rodrigo Moreira da Silva, Mauro Sérgio Ferreira Santos, Eric Tavares da Costa, Americo Ceiki Sakamoto, Emanuel Carrilho, Cristiane Masetto Gaitani, Carlos D Garcia
Topiramate (TPM) is the main antiepileptic drug used for the control of partial and generalized seizures in both adults and children. In association with clinical observations, the analysis of plasmatic concentration of TPM is of utmost importance for the individual adjustment of the administered dose to the patient. In the present work, a bioanalytical method was developed and validated for TPM analysis in plasma samples by capillary electrophoresis with capacitively-coupled contactless conductivity detection (CE-C4 D)...
March 25, 2018: Electrophoresis
https://www.readbyqxmd.com/read/29548491/good-news-on-adjuvant-therapy-for-advanced-cutaneous-melanoma
#9
D Morgado-Carrasco, F Terc, S S Ertekin, L Ferrandiz
No abstract text is available yet for this article.
March 13, 2018: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/29548489/immunotherapy-for-advanced-skin-cancer
#10
D Morgado-Carrasco, F Terc, S S Ertekin, L Ferrandiz
No abstract text is available yet for this article.
March 13, 2018: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/29494516/the-unforeseen-non-coding-rnas-in-head-and-neck-cancer
#11
REVIEW
Alexandra Iulia Irimie, Alina-Andreea Zimta, Cristina Ciocan, Nikolay Mehterov, Diana Dudea, Cornelia Braicu, Ioana Berindan-Neagoe
Previously ignored non-coding RNAs (ncRNAs) have become the subject of many studies. However, there is an imbalance in the amount of consideration that ncRNAs are receiving. Some transcripts such as microRNAs (miRNAs) or small interfering RNAs (siRNAs) have gained much attention, but it is necessary to investigate other "pieces of the RNA puzzle". These can offer a more complete view over normal and pathological cell behavior. The other ncRNA species are less studied, either due to their recent discovery, such as stable intronic sequence RNA (sisRNA), YRNA, miRNA-offset RNAs (moRNA), telomerase RNA component (TERC), natural antisense transcript (NAT), transcribed ultraconserved regions (T-UCR), and pseudogene transcript, or because they are still largely seen as non-coding transcripts with no relevance to pathogenesis...
March 1, 2018: Genes
https://www.readbyqxmd.com/read/29483670/novel-variants-in-nordic-patients-referred-for-genetic-testing-of-telomere-related-disorders
#12
Anna Norberg, Anna Rosén, Klas Raaschou-Jensen, Lars Kjeldsen, Jukka S Moilanen, Ylva Paulsson-Karlsson, Panagiotis Baliakas, Olli Lohi, Aymen Ahmed, Astrid O Kittang, Pär Larsson, Göran Roos, Sofie Degerman, Magnus Hultdin
Telomere-related disorders are a clinically and genetically heterogeneous group of disorders characterized by premature telomere shortening and proliferative failure of a variety of tissues. This study reports the spectrum of telomere-related gene variants and telomere length in Nordic patients referred for genetic testing due to suspected telomere-related disorder. We performed Sanger sequencing of the genes TERT, TERC, DKC1, and TINF2 on 135 unrelated index patients and measured telomere length by qPCR on DNA from peripheral blood leukocytes...
February 26, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29474209/pulmonary-phenotypes-associated-with-genetic-variation-in-telomere-related-genes
#13
Thijs W Hoffman, Coline H M van Moorsel, Raphael Borie, Bruno Crestani
PURPOSE OF REVIEW: Genomic mutations in telomere-related genes have been recognized as a cause of familial forms of idiopathic pulmonary fibrosis (IPF). However, it has become increasingly clear that telomere syndromes and telomere shortening are associated with various types of pulmonary disease. Additionally, it was found that also single nucleotide polymorphisms (SNPs) in telomere-related genes are risk factors for the development of pulmonary disease. This review focuses on recent updates on pulmonary phenotypes associated with genetic variation in telomere-related genes...
May 2018: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/29462198/hexokinase-2-is-a-molecular-bridge-linking-telomerase-and-autophagy
#14
Jae-Il Roh, Yujin Kim, Jahyun Oh, Yunmi Kim, Jeehyun Lee, Jaehoon Lee, Kyung-Hee Chun, Han-Woong Lee
Autophagy is systematically regulated by upstream factors and nutrients. Recent studies reported that telomerase and hexokinase 2 [HK2) regulate autophagy through mTOR and that telomerase has the capacity to bind to the HK2 promoter. However, the molecular linkage among telomerase, HK2, and autophagy is not fully understood. Here, we show that HK2 connects telomerase to autophagy. HK2 inhibition in HepG2 cells suppressed TERT-induced autophagy activation and further enhancement by glucose deprivation. The HK2 downstream factor mTOR was responsible for the TERT-induced autophagy activation under glucose deprivation, implying that TERT promotes autophagy through an HK2-mTOR pathway...
2018: PloS One
https://www.readbyqxmd.com/read/29440394/structure-function-analysis-of-manganese-exporter-proteins-across-bacteria
#15
Rilee Zeinert, Eli Martinez, Jennifer Schmitz, Katherine Senn, Bakhtawar Usman, Vivek Anantharaman, L Aravind, Lauren S Waters
Manganese (Mn) is an essential trace nutrient for organisms because of its role in cofactoring enzymes and providing protection against reactive oxygen species (ROS). Many bacteria require manganese to form pathogenic or symbiotic interactions with eukaryotic host cells. However, excess manganese is toxic, requiring cells to have manganese export mechanisms. Bacteria are currently known to possess two widely distributed classes of manganese export proteins, MntP and MntE, but other types of transporters likely exist...
April 13, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29351466/telomerase-reverse-transcriptase-protects-against-angiotensin-ii-induced-microvascular-endothelial-dysfunction
#16
Karima Ait-Aissa, Andrew O Kadlec, Joseph Hockenberry, David D Gutterman, Andreas M Beyer
A rise in reactive oxygen species (ROS) may contribute to cardiovascular disease by reducing nitric oxide (NO) levels, leading to loss of NO's vasodilator and anti-inflammatory effects. Although primarily studied in the larger conduit arteries, excess ROS release and a corresponding loss of NO also occurs in the smaller resistance arteries of the microcirculation, but underlying mechanisms and therapeutic targets have not been fully characterized. We examined whether either of the two subunits of telomerase, telomerase reverse transcriptase (TERT) or telomerase RNA component (TERC), affect microvascular ROS production and peak vasodilation at baseline and in response to in vivo administration to angiotensin II (ANG II)...
December 22, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/29344960/association-of-genetic-variation-in-telomere-related-snp-and-telomerase-with-ventricular-arrhythmias-in-ischaemic-cardiomyopathy
#17
Vinit Sawhney, Scott Brouilette, Niall Campbell, Steven Coppen, Victoria Baker, Ross Hunter, Mehul Dhinoja, Atholl Johnston, Mark Earley, Simon Sporton, Ken Suzuki, Richard Schilling
BACKGROUND: Telomeres are known to provide genomic stability and telomere length has been associated with cardiovascular diseases. Moreover, a higher telomerase activity has been shown to be associated with ventricular arrhythmias (VA) in ischaemic cardiomyopathy. Increasing evidence suggests that genetic variation in key telomere genes has an impact on telomerase activity. Each copy of the minor allele of SNP rs12696304, at a locus including TERC (telomerase) has been associated with ∼ 75 bp reduction in mean telomere length likely mediated by an effect on TERC expression...
January 17, 2018: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29299136/genetic-variations-in-terc-and-tert-genes-are-associated-with-lung-cancer-risk-in-a-chinese-han-population
#18
Gang Ye, Nan Tan, Chenyang Meng, Jingjie Li, Li Jing, Mengdan Yan, Tianbo Jin, Fulin Chen
The study was aimed to explore whether the TERT and TERC polymorphisms are associated with the lung cancer risk. Five TERC and TERT polymorphisms were genotyped from 554 lung cancer patients and 603 healthy controls. We used χ2 test, genetic model, linkage disequilibrium (LD) and haplotype analyses to evaluate the association between the polymorphisms and lung cancer risk. We found that the allele "C" of rs10936599 ( TERC ) and the allele "T" of rs10069690 ( TERT ) were associated with increased risk of lung cancer (OR = 1...
December 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/29296896/maintenance-of-telomere-length-in-aml
#19
REVIEW
Peter M Lansdorp
The importance of telomere length to human health, aging, and cancer continues to be underappreciated. This review examines some basics of telomere biology and relates how telomere function, telomerase activity, and mutations in TERC or TERT are involved in bone marrow failure, leukemias, and other cancers. Given the challenge to obtain accurate data on telomerase activity and telomere length in specific cell types, the situation in acute myeloid leukemia (AML) remains puzzling. In most cancers, telomerase levels are increased after cells have encountered a "telomere crisis," which is typically associated with poor prognosis...
November 28, 2017: Blood Advances
https://www.readbyqxmd.com/read/29161159/unilateral-coats-like-disease-and-an-intragenic-deletion-in-the-terc-gene-a-case-report
#20
G Peene, E Smets, E Legius, C Cassiman
We report a case of a 25-year-old woman with unilateral Coats'-like disease. Her brother was previously diagnosed with an autosomal dominant form of dyskeratosis congenita. Genetic testing was performed by screening the TERC gene for mutations and identified heterozygosity for the n.68_124del mutation. Our case demonstrates that the exudative retinopathy seen in Coats'-like disease can be caused by mutations in a telomere-capping gene TERC as a part of the dyskeratosis congenita spectrum without other systemic involvement...
April 2018: Ophthalmic Genetics
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