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https://www.readbyqxmd.com/read/29161159/unilateral-coats-like-disease-and-an-intragenic-deletion-in-the-terc-gene-a-case-report
#1
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...
November 21, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29151059/genome-wide-association-study-of-telomere-length-among-south-asians-identifies-a-second-rtel1-association-signal
#2
Dayana A Delgado, Chenan Zhang, Lin S Chen, Jianjun Gao, Shantanu Roy, Justin Shinkle, Mekala Sabarinathan, Maria Argos, Lin Tong, Alauddin Ahmed, Tariqul Islam, Muhammad Rakibuz-Zaman, Golam Sarwar, Hasan Shahriar, Mahfuzar Rahman, Mohammad Yunus, Farzana Jasmine, Muhammad G Kibriya, Habibul Ahsan, Brandon L Pierce
BACKGROUND: Leucocyte telomere length (TL) is a potential biomarker of ageing and risk for age-related disease. Leucocyte TL is heritable and shows substantial differences by race/ethnicity. Recent genome-wide association studies (GWAS) report ~10 loci harbouring SNPs associated with leucocyte TL, but these studies focus primarily on populations of European ancestry. OBJECTIVE: This study aims to enhance our understanding of genetic determinants of TL across populations...
November 18, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29146883/a-landscape-of-germline-mutations-in-a-cohort-of-inherited-bone-marrow-failure-patients
#3
Olivier Bluteau, Marie Sebert, Thierry Leblanc, Régis Peffault de Latour, Samuel Quentin, Elodie Lainey, Lucie Hernandez, Jean-Hugues Dalle, Flore Sicre de Fontbrune, Etienne Lengline, Raphael Itzykson, Emmanuelle Clappier, Nicolas Boissel, Naddia Vasquez, Mélanie Da Costa, Julien Masliah-Planchon, Wendy Cuccuini, Anna Raimbault, Louis De Jaegere, Lionel Adès, Pierre Fenaux, Sébastien Maury, Claudine Schmitt, Marc Muller, Carine Domenech, Nicolas Blin, Bénédicte Bruno, Isabelle Pellier, Mathilde Hunault, Stéphane Blanche, Arnaud Petit, Guy Leverger, Gérard Michel, Yves Bertrand, André Baruchel, Gérard Socié, Jean Soulier
Bone marrow failure (BMF) in children and young adults is often suspected to be inherited, but in many cases diagnosis remains uncertain. We studied a cohort of 179 patients (from 173 families) with BMF of suspected inherited origin but unresolved diagnosis after medical evaluation and Fanconi anemia exclusion. All patients had cytopenias, and 12.0% presented ≥5% bone marrow blast cells. Median age at genetic evaluation was 11 years; 20.7% of patients were aged ≤2 years and 36.9% were ≥18 years. We analyzed genomic DNA from skin fibroblasts using whole-exome sequencing, and were able to assign a causal or likely causal germline mutation in 86 patients (48...
November 16, 2017: Blood
https://www.readbyqxmd.com/read/29113290/telomere-dna-damage-signaling-regulates-cancer-stem-cell-evolution-epithelial-mesenchymal-transition-and-metastasis
#4
Angelica M Lagunas, Jianchun Wu, David L Crowe
Chromosome ends are protected by telomeres that prevent DNA damage response and degradation. When telomeres become critically short, the DNA damage response is activated at chromosome ends which induces cellular senescence or apoptosis. Telomeres are protected by the double stranded DNA binding protein TRF2 and maintained by telomerase or a recombination based mechanism known as alternative lengthening of telomeres (ALT). Telomerase is expressed in the basal layer of the epidermis, and stem cells in epidermis have longer telomeres than proliferating populations...
October 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/29100352/genetic-variations-in-terc-and-tert-genes-are-associated-with-renal-cell-carcinoma-risk-in-a-chinese-han-population
#5
Dapeng Wu, Guodong Zhu, Jin Zeng, Wenbin Song, Ke Wang, Xinyang Wang, Peng Guo, Dalin He
Renal cell carcinoma (RCC) is a common malignant tumor of the urinary system, the pathogenesis of RCC is still unclear. It is reported that genetic variations in telomere length related-genes TERT and TERC are involved in the many types of cancers. However, little is known about the association between TERT and TERC polymorphisms and susceptibility to RCC risk. To solve this problem, a total of 293 patients with primary renal cell carcinoma and 459 healthy people were recruited in our study. Six SNPs of TERC and TERT were genotyped, and association analysis was performed...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29055871/acute-telomerase-components-depletion-triggers-oxidative-stress-as-an-early-event-previous-to-telomeric-shortening
#6
José Santiago Ibáñez-Cabellos, Giselle Pérez-Machado, Marta Seco-Cervera, Ester Berenguer-Pascual, José Luis García-Giménez, Federico V Pallardó
Loss of function of dyskerin (DKC1), NOP10 and TIN2 are responsible for different inheritance patterns of Dyskeratosis congenita (DC; ORPHA1775). They are key components of telomerase (DKC1 and NOP10) and shelterin (TIN2), and play an important role in telomere homeostasis. They participate in several fundamental cellular processes by contributing to Dyskeratosis congenita through mechanisms that are not fully understood. Presence of oxidative stress was postulated to result from telomerase ablation. However, the resulting disturbed redox status can promote telomere attrition by generating a vicious circle, which promotes cellular senescence...
October 7, 2017: Redox Biology
https://www.readbyqxmd.com/read/28985021/the-effects-of-gene-polymorphisms-on-glioma-prognosis
#7
Ying Cui, Guolin Li, Mengdan Yan, Jing Li, Tianbo Jin, Shanqu Li, Shijie Mu
PURPOSE: Malignant gliomas are the most common primary brain tumors. Various genetic factors play important roles in the development and prognosis of glioma. This study focuses on the impact of MPHOSPH6, TNIP1, and several other genes (ACYP2, NAF1, TERC, TERT, OBFC1, ZNF208, and RTEL1) on telomere length and how that affects the prognosis of glioma. MATERIALS AND METHODS: Forty-three polymorphisms in nine genes from 605 glioma patients were selected. The association between genotype and survival outcome was analyzed using the Kaplan-Meier method, Cox regression analysis, and the log-rank test...
October 6, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28968392/division-induced-dna-double-strand-breaks-in-the-chromosome-terminus-region-of-escherichia-coli-lacking-recbcd-dna-repair-enzyme
#8
Anurag Kumar Sinha, Adeline Durand, Jean-Michel Desfontaines, Ielyzaveta Iurchenko, Hélène Auger, David R F Leach, François-Xavier Barre, Bénédicte Michel
Marker frequency analysis of the Escherichia coli recB mutant chromosome has revealed a deficit of DNA in a specific zone of the terminus, centred on the dif/TerC region. Using fluorescence microscopy of a marked chromosomal site, we show that the dif region is lost after replication completion, at the time of cell division, in one daughter cell only, and that the phenomenon is transmitted to progeny. Analysis by marker frequency and microscopy shows that the position of DNA loss is not defined by the replication fork merging point since it still occurs in the dif/TerC region when the replication fork trap is displaced in strains harbouring ectopic Ter sites...
October 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28900814/sub-fertile-sperm-cells-exemplify-telomere-dysfunction
#9
Tal Biron-Shental, Amir Wiser, Anat Hershko-Klement, Ofer Markovitch, Aliza Amiel, Arie Berkovitch
PURPOSE: The purpose of this study was to evaluate telomere homeostasis in sub-fertile compared to fertile human sperm. METHODS: This observational, comparative study included 16 sub-fertile men who required intracytoplasmic sperm injection and 10 fertile men. At least 100 sperm cells from each participant were assessed. Main outcome measures were telomere length and telomere aggregates. Telomerase RNA component (TERC) copy number and telomere capture were assessed using fluorescence in situ hybridization technique and human telomerase reverse transcriptase (hTERT) using immunohistochemistry...
September 13, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28899413/evolution-and-genome-specialization-of-brucella-suis-biovar-2-iberian-lineages
#10
Ana Cristina Ferreira, Rogério Tenreiro, Maria Inácia Corrêa de Sá, Ricardo Dias
BACKGROUND: Swine brucellosis caused by B. suis biovar 2 is an emergent disease in domestic pigs in Europe. The emergence of this pathogen has been linked to the increase of extensive pig farms and the high density of infected wild boars (Sus scrofa). In Portugal and Spain, the majority of strains share specific molecular characteristics, which allowed establishing an Iberian clonal lineage. However, several strains isolated from wild boars in the North-East region of Spain are similar to strains isolated in different Central European countries...
September 12, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28888037/myc-drives-overexpression-of-telomerase-rna-htr-terc-in-prostate-cancer
#11
Javier A Baena-Del Valle, Qizhi Zheng, David M Esopi, Michael Rubenstein, Gretchen K Hubbard, Maria C Moncaliano, Andrew Hruszkewycz, Ajay Vaghasia, Srinivasan Yegnasubramanian, Sarah J Wheelan, Alan K Meeker, Christopher M Heaphy, Mindy K Graham, Angelo M De Marzo
Telomerase consists of at least two essential elements, an RNA component hTR or TERC that contains the template for telomere DNA addition, and a catalytic reverse transcriptase (TERT). While expression of TERT has been considered the key rate limiting component for telomerase activity, increasing evidence suggests an important role for the regulation of TERC in telomere maintenance and perhaps other functions in human cancer. By using three orthogonal methods including RNAseq, RT-qPCR, and an analytically validated chromogenic RNA in situ hybridization assay, we report consistent overexpression of TERC in prostate cancer...
September 9, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28814981/cpg-location-and-methylation-level-are-crucial-factors-for-the-early-detection-of-oral-squamous-cell-carcinoma-in-brushing-samples-using-bisulfite-sequencing-of-a-13-gene-panel
#12
Luca Morandi, Davide Gissi, Achille Tarsitano, Sofia Asioli, Andrea Gabusi, Claudio Marchetti, Lucio Montebugnoli, Maria Pia Foschini
BACKGROUND: Oral squamous cell carcinoma (OSCC) is usually diagnosed at an advanced stage and is commonly preceded by oral premalignant lesions. The mortality rates have remained unchanged (50% within 5 years after diagnosis), and it is related to tobacco smoking and alcohol intake. Novel molecular markers for early diagnosis are urgently needed. The purpose of this study was to evaluate the diagnostic value of methylation level in a set of 18 genes by bisulfite next-generation sequencing...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28813500/telomere-biology-and-telomerase-mutations-in-cirrhotic-patients-with-hepatocellular-carcinoma
#13
Flávia S Donaires, Natália F Scatena, Raquel M Alves-Paiva, Joshua D Podlevsky, Dhenugen Logeswaran, Barbara A Santana, Andreza C Teixeira, Julian J-L Chen, Rodrigo T Calado, Ana L C Martinelli
Telomeres are repetitive DNA sequences at linear chromosome termini, protecting chromosomes against end-to-end fusion and damage, providing chromosomal stability. Telomeres shorten with mitotic cellular division, but are maintained in cells with high proliferative capacity by telomerase. Loss-of-function mutations in telomere-maintenance genes are genetic risk factors for cirrhosis development in humans and murine models. Telomerase deficiency provokes accelerated telomere shortening and dysfunction, facilitating genomic instability and oncogenesis...
2017: PloS One
https://www.readbyqxmd.com/read/28741793/telomerase-enzyme-deficiency-promotes-metabolic-dysfunction-in-murine-hepatocytes-upon-dietary-stress
#14
Raquel M Alves-Paiva, Sachiko Kajigaya, Xingmin Feng, Jichun Chen, Marie Desierto, Susan Wong, Danielle M Townsley, Flávia S Donaires, Adeline Bertola, Bin Gao, Neal S Young, Rodrigo T Calado
BACKGROUND & AIMS: Short telomeres and genetic telomerase defects are risk factors for some human liver diseases, ranging from non-alcoholic fatty liver disease and non-alcoholic steatohepatitis to cirrhosis. In murine models, telomere dysfunction has been shown to metabolically compromise hematopoietic cells, liver and heart via the activation of the p53-PGC axis. METHODS: Tert- and Terc-deficient mice were challenged with liquid high-fat diet. Liver metabolic contents were analysed by CE-TOFMS and liver fat content was confirmed by confocal and electronic microscopy...
July 25, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28683293/a-specific-gut-microbiota-dysbiosis-of-type-2-diabetic-mice-induces-glp-1-resistance-through-an-enteric-no-dependent-and-gut-brain-axis-mechanism
#15
Estelle Grasset, Anthony Puel, Julie Charpentier, Xavier Collet, Jeffrey E Christensen, François Tercé, Rémy Burcelin
No abstract text is available yet for this article.
July 5, 2017: Cell Metabolism
https://www.readbyqxmd.com/read/28536600/evolinc-a-tool-for-the-identification-and-evolutionary-comparison-of-long-intergenic-non-coding-rnas
#16
Andrew D L Nelson, Upendra K Devisetty, Kyle Palos, Asher K Haug-Baltzell, Eric Lyons, Mark A Beilstein
Long intergenic non-coding RNAs (lincRNAs) are an abundant and functionally diverse class of eukaryotic transcripts. Reported lincRNA repertoires in mammals vary, but are commonly in the thousands to tens of thousands of transcripts, covering ~90% of the genome. In addition to elucidating function, there is particular interest in understanding the origin and evolution of lincRNAs. Aside from mammals, lincRNA populations have been sparsely sampled, precluding evolutionary analyses focused on their emergence and persistence...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28479693/telomeres-in-health-and-disease
#17
REVIEW
Shailja Chatterjee
Telomeres are repetitive ribonucleoprotein complexes present at ends of chromosomes. To synthesize this manuscript, a thorough literature search was done using PubMed, MEDLINE and Cochrane review for English-language literature and data available from the period of 2005-2016 were analyzed for manuscript writing. Telomeres help in maintaining the cellular health, inbuilt cellular mechanisms, metabolism and normal cell cycle. Telomerase is a specialized enzyme that possesses catalytic subunits - reverse transcriptase, Terc and dyskerin...
January 2017: Journal of Oral and Maxillofacial Pathology: JOMFP
https://www.readbyqxmd.com/read/28468592/whole-transcriptome-analysis-reveals-dysregulated-oncogenic-lncrnas-in-natural-killer-t-cell-lymphoma-and-establishes-mir155hg-as-a-target-of-prdm1
#18
Esra Baytak, Qiang Gong, Burcu Akman, Hongling Yuan, Wing C Chan, Can Küçük
Natural killer/T-cell lymphoma is a rare but aggressive neoplasm with poor prognosis. Despite previous reports that showed potential tumor suppressors, such as PRDM1 or oncogenes associated with the etiology of this malignancy, the role of long non-coding RNAs in natural killer/T-cell lymphoma pathobiology has not been addressed to date. Here, we aim to identify cancer-associated dysregulated long non-coding RNAs and signaling pathways or biological processes associated with these long non-coding RNAs in natural killer/T-cell lymphoma cases and to identify the long non-coding RNAs transcriptionally regulated by PRDM1...
May 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28467926/a-specific-gut-microbiota-dysbiosis-of-type-2-diabetic-mice-induces-glp-1-resistance-through-an-enteric-no-dependent-and-gut-brain-axis-mechanism
#19
Estelle Grasset, Anthony Puel, Julie Charpentier, Xavier Collet, Jeffrey E Christensen, François Tercé, Rémy Burcelin
Glucagon-like peptide-1 (GLP-1)-based therapies control glycemia in type 2 diabetic (T2D) patients. However, in some patients the treatment must be discontinued, defining a state of GLP-1 resistance. In animal models we identified a specific set of ileum bacteria impairing the GLP-1-activated gut-brain axis for the control of insulin secretion and gastric emptying. Using prediction algorithms, we identified bacterial pathways related to amino acid metabolism and transport system modules associated to GLP-1 resistance...
May 2, 2017: Cell Metabolism
https://www.readbyqxmd.com/read/28459868/aberrant-leukocyte-telomere-length-in-birdshot-uveitis
#20
Nadia Vazirpanah, Fleurieke H Verhagen, Anna Rothova, Tom O A R Missotten, Mirjam van Velthoven, Anneke I Den Hollander, Carel B Hoyng, Timothy R D J Radstake, Jasper C A Broen, Jonas J W Kuiper
PURPOSE: Birdshot Uveitis (BU) is an archetypical chronic inflammatory eye disease, with poor visual prognosis, that provides an excellent model for studying chronic inflammation. BU typically affects patients in the fifth decade of life. This suggests that it may represent an age-related chronic inflammatory disease, which has been linked to increased erosion of telomere length of leukocytes. METHODS: To study this in detail, we exploited a sensitive standardized quantitative real-time polymerase chain reaction to determine the peripheral blood leukocyte telomere length (LTL) in 91 genotyped Dutch BU patients and 150 unaffected Dutch controls...
2017: PloS One
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