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https://www.readbyqxmd.com/read/27905656/-persistent-elevation-of-aspartate-aminotransferase-ast-due-to-the-presence-of-macro-ast-report-of-one-case
#1
Verónica Bustamante, Juan Pablo Arab, Florencia Terc, Helena Poggi, Manuela Goycoolea, Marco Arrese, Teresita Quiroga, Carlos Benítez
We report an asymptomatic 23-year-old woman with an isolated and persistent increase in serum levels of aspartate aminotransferase (AST). An extensive work up including laboratory and image testing revealed no abnormalities thus suggesting the presence of macro-AST. A polyethylene glycol (PEG) precipitation assay was performed and confirmed the presence of macro-AST.
August 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/27871469/placental-telomere-length-decline-with-gestational-age-differs-by-sex-and-tert-dnmt1-and-dnmt3a-dna-methylation
#2
Samantha L Wilson, Yao Liu, Wendy P Robinson
INTRODUCTION: Telomere length (TL) has been suggested to be influenced by inherited genetic and epigenetic variation, hormonal effects, oxidative stress and age. However, the dynamics of TL during in utero development have not been well explored. This study investigates the relationship between placental TL and sex, gestational age (GA), and DNA methylation (DNAm). Placental TL is further evaluated in pregnancies complicated by preeclampsia (PE) and intrauterine growth restriction (IUGR), conditions hypothesized to lead to decreased placental TL due to increased oxidative stress...
December 2016: Placenta
https://www.readbyqxmd.com/read/27836952/prevalence-and-characteristics-of-tert-and-terc-mutations-in-suspected-genetic-pulmonary-fibrosis
#3
Raphael Borie, Laure Tabèze, Gabriel Thabut, Hilario Nunes, Vincent Cottin, Sylvain Marchand-Adam, Grégoire Prevot, Abdellatif Tazi, Jacques Cadranel, Herve Mal, Lidwine Wemeau-Stervinou, Anne Bergeron Lafaurie, Dominique Israel-Biet, Clement Picard, Martine Reynaud Gaubert, Stephane Jouneau, Jean-Marc Naccache, Julie Mankikian, Christelle Ménard, Jean-François Cordier, Dominique Valeyre, Marion Reocreux, Bernard Grandchamp, Patrick Revy, Caroline Kannengiesser, Bruno Crestani
Telomerase reverse transcriptase (TERT) or telomerase RNA (TERC) gene mutation is a major monogenic cause of pulmonary fibrosis. Sequencing of TERT/TERC genes is proposed to patients with familial pulmonary fibrosis. Little is known about the possible predictors of this mutation and its impact on prognosis.We retrospectively analysed all the genetic diagnoses made between 2007-2014 in patients with pulmonary fibrosis. We evaluated the prevalence of TERT/TERC disease-associated variant (DAV), factors associated with a DAV, and the impact of the DAV on survival...
December 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/27823970/expression-of-functional-alternative-telomerase-rna-component-gene-in-mouse-brain-and-in-motor-neurons-cells-protects-from-oxidative-stress
#4
Erez Eitan, Admoni Tamar, Grin Yossi, Refael Peleg, Alex Braiman, Esther Priel
Telomerase, a ribonucleoprotein, is highly expressed and active in many tumor cells and types, therefore it is considered to be a target for anti-cancer agents. On the other hand, recent studies demonstrated that activation of telomerase is a potential therapeutic target for age related diseases. Telomerase mainly consists of a catalytic protein subunit with a reverse transcription activity (TERT) and an RNA component (TERC), a long non-coding RNA, which serves as a template for the re-elongation of telomeres by TERT...
November 3, 2016: Oncotarget
https://www.readbyqxmd.com/read/27819178/myelodysplastic-syndromes-and-acute-leukemia-with-genetic-predispositions-a-new-challenge-for-hematologists
#5
Nicolas Duployez, Sophie Lejeune, Aline Renneville, Claude Preudhomme
The determination of an underlying genetic predisposition is not automatically part of the diagnosis of hematological malignancies (HM) in routine practice. However, it is assumed that genetic predispositions to HM are currently underestimated due to great variations in disease phenotype, variable latency and incomplete penetrance. Most of patients do not display any biological or clinical signs besides the overt hematological disease and many of them have a lack of personal or family history of malignancies...
December 2016: Expert Review of Hematology
https://www.readbyqxmd.com/read/27818134/transcriptomic-characterization-of-sf3b1-mutation-reveals-its-pleiotropic-effects-in-chronic-lymphocytic-leukemia
#6
Lili Wang, Angela N Brooks, Jean Fan, Youzhong Wan, Rutendo Gambe, Shuqiang Li, Sarah Hergert, Shanye Yin, Samuel S Freeman, Joshua Z Levin, Lin Fan, Michael Seiler, Silvia Buonamici, Peter G Smith, Kevin F Chau, Carrie L Cibulskis, Wandi Zhang, Laura Z Rassenti, Emanuela M Ghia, Thomas J Kipps, Stacey Fernandes, Donald B Bloch, Dylan Kotliar, Dan A Landau, Sachet A Shukla, Jon C Aster, Robin Reed, David S DeLuca, Jennifer R Brown, Donna Neuberg, Gad Getz, Kenneth J Livak, Matthew M Meyerson, Peter V Kharchenko, Catherine J Wu
Mutations in SF3B1, which encodes a spliceosome component, are associated with poor outcome in chronic lymphocytic leukemia (CLL), but how these contribute to CLL progression remains poorly understood. We undertook a transcriptomic characterization of primary human CLL cells to identify transcripts and pathways affected by SF3B1 mutation. Splicing alterations, identified in the analysis of bulk cells, were confirmed in single SF3B1-mutated CLL cells and also found in cell lines ectopically expressing mutant SF3B1...
November 14, 2016: Cancer Cell
https://www.readbyqxmd.com/read/27816684/role-of-telomeres-and-associated-maintenance-genes-in-type-2-diabetes-mellitus-a-review
#7
REVIEW
Itty Sethi, G R Bhat, Vinod Singh, Rakesh Kumar, A J S Bhanwer, Rameshwar N K Bamezai, Swarkar Sharma, Ekta Rai
Type 2 Diabetes Mellitus (T2DM), a multifactorial complex disorder, is emerging as a major cause of morbidity, mortality and socio-economic burden across the world. Despite huge efforts in understanding genetics of T2DM, only ∼10% of the genetic factors have been identified so far. Telomere attrition, a natural phenomenon has recently emerged in understanding the pathophysiology of T2DM. It has been indicated that Telomeres and associated pathways might be the critical components in the disease etiology, though the mechanism(s) involved are not clear...
October 21, 2016: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/27812514/association-between-genetic-variations-affecting-mean-telomere-length-and-the-prevalence-of-hypertension-and-coronary-heart-disease-in-koreans
#8
Jean Kyung Paik, Ryungwoo Kang, Yoonsu Cho, Min-Jeong Shin
In this study, we investigated whether the single nucleotide polymorphisms (SNPs) associated with telomere length (TL) were associated with the incidence of hypertension (HTN)/coronary heart disease (CHD) and cardiovascular risk factors in the Korean population. Data from 5,705 (ages 39-70) participants in the Korean Genome Epidemiology Study (rural Ansung and urban Ansan cohorts) were studied. Twelve SNPs known to be associated with telomere biology were tested for an association with HTN/CHD. As results, no significant associations were found between the selected TL-related SNPs and prevalence of HTN and CHD...
October 2016: Clinical Nutrition Research
https://www.readbyqxmd.com/read/27810892/telomere-length-and-depression-prospective-cohort-study-and-mendelian-randomisation-study-in-67-306-individuals
#9
Marie Kim Wium-Andersen, David Dynnes Ørsted, Line Rode, Stig Egil Bojesen, Børge Grønne Nordestgaard
BACKGROUND: Depression has been cross-sectionally associated with short telomeres as a measure of biological age. However, the direction and nature of the association is currently unclear. AIMS: We examined whether short telomere length is associated with depression cross-sectionally as well as prospectively and genetically. METHOD: Telomere length and three polymorphisms, TERT, TERC and OBFC1, were measured in 67 306 individuals aged 20-100 years from the Danish general population and associated with register-based attendance at hospital for depression and purchase of antidepressant medication...
November 3, 2016: British Journal of Psychiatry: the Journal of Mental Science
https://www.readbyqxmd.com/read/27783624/correction-rna-binding-protein-fxr1-regulates-p21-and-terc-rna-to-bypass-p53-mediated-cellular-senescence-in-oscc
#10
Mrinmoyee Majumder, Reniqua House, Nallasivam Palanisamy, Shuo Qie, Terrence A Day, David Neskey, J Alan Diehl, Viswanathan Palanisamy
[This corrects the article DOI: 10.1371/journal.pgen.1006306.].
October 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27782152/hulc-cooperates-with-malat1-to-aggravate-liver-cancer-stem-cells-growth-through-telomere-repeat-binding-factor-2
#11
Mengying Wu, Zhuojia Lin, Xiaonan Li, Xiaoru Xin, Jiahui An, Qidi Zheng, Yuxin Yang, Dongdong Lu
The dysregulation of lncRNAs has increasingly been linked to many human diseases, especially in cancers. Our results demonstrate HULC, MALAT1 and TRF2 are highly expressed in human hepatocellular carcinoma tissues, and HULC plus MALAT1 overexpression drastically promotes the growth of liver cancer stem cells. Mechanistically, both HULC and MALAT1 overexpression enhanced RNA polII, P300, CREPT to load on the promoter region of telomere repeat-binding factor 2(TRF2), triggering the overexpression, phosphorylation and SUMOylation of TRF2...
October 26, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27759658/genome-wide-identification-of-expression-quantitative-trait-loci-for-human-telomerase
#12
Hanseol Kim, Jihye Ryu, Chaeyoung Lee
A genome-wide association study was conducted to identify expression quantitative trait loci (eQTL) for human telomerase.We tested the genetic associations of nucleotide variants with expression of the genes encoding human telomerase reverse transcriptase (hTERT) and telomerase RNA components (TERC) in lymphoblastoid cell lines derived from 373 Europeans.Our results revealed 6 eQTLs associated with hTERT (P < 5 × 10). One eQTL (rs17755753) was located in the intron 1 of the gene encoding R-spondin-3 (RSPO3), a well-known Wnt signaling regulator...
October 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27707805/telomerase-rna-component-genetic-variants-interact-with-the-mediterranean-diet-modifying-the-inflammatory-status-and-its-relationship-with-aging-cordioprev-study
#13
Francisco Gomez-Delgado, Javier Delgado-Lista, Javier Lopez-Moreno, Oriol Alberto Rangel-Zuñiga, Juan Francisco Alcala-Diaz, Ana Leon-Acuña, Andreea Corina, Elena Yubero-Serrano, Jose David Torres-Peña, Antonio Camargo, Antonio Garcia-Rios, Javier Caballero, Justo Castaño, Jose M Ordovas, Jose Lopez-Miranda, Pablo Perez-Martinez
BACKGROUND: Leukocyte telomere length (LTL) attrition has been associated with age-related diseases. Telomerase RNA Component (TERC) genetic variants have been associated with LTL; whereas fatty acids (FAs) can interact with genetic factors and influence in aging. We explore whether variability at the TERC gene locus interacts with FA profile and two healthy diets (low-fat diet vs Mediterranean diet [MedDiet]) modulating LTL, glucose metabolism, and inflammation status in coronary heart disease (CHD) patients...
October 5, 2016: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/27632567/telomere-length-recovery-a-strong-predictor-of-overall-survival-in-acute-promyelocytic-leukemia
#14
Muhamed Baljevic, Bogdan Dumitriu, Ju-Whei Lee, Elisabeth M Paietta, Peter H Wiernik, Janis Racevskis, Christina Chen, Eytan M Stein, Robert E Gallagher, Jacob M Rowe, Frederick R Appelbaum, Bayard L Powell, Richard A Larson, Steven E Coutré, Jeffrey Lancet, Mark R Litzow, Selina M Luger, Neal S Young, Martin S Tallman
Telomeres are the capping ends of chromosomes that protect the loss of genetic material and prevent chromosomal instability. In human tissue-specific stem/progenitor cells, telomere length (TL) is maintained by the telomerase complex, which consists of a reverse transcriptase catalytic subunit (TERT) and an RNA template (TERC). Very short telomeres and loss-of-function mutations in the TERT and TERC genes have been reported in acute myeloid leukemia, but the role of telomeres in acute promyelocytic leukemia (APL) has not been well established...
2016: Acta Haematologica
https://www.readbyqxmd.com/read/27630174/idiopathic-pulmonary-fibrosis-a-genetic-disease-that-involves-mucociliary-dysfunction-of-the-peripheral-airways
#15
REVIEW
Christopher M Evans, Tasha E Fingerlin, Marvin I Schwarz, David Lynch, Jonathan Kurche, Laura Warg, Ivana V Yang, David A Schwartz
Idiopathic pulmonary fibrosis (IPF) is an incurable complex genetic disorder that is associated with sequence changes in 7 genes (MUC5B, TERT, TERC, RTEL1, PARN, SFTPC, and SFTPA2) and with variants in at least 11 novel loci. We have previously found that 1) a common gain-of-function promoter variant in MUC5B rs35705950 is the strongest risk factor (genetic and otherwise), accounting for 30-35% of the risk of developing IPF, a disease that was previously considered idiopathic; 2) the MUC5B promoter variant can potentially be used to identify individuals with preclinical pulmonary fibrosis and is predictive of radiologic progression of preclinical pulmonary fibrosis; and 3) MUC5B may be involved in the pathogenesis of pulmonary fibrosis with MUC5B message and protein expressed in bronchiolo-alveolar epithelia of IPF and the characteristic IPF honeycomb cysts...
October 2016: Physiological Reviews
https://www.readbyqxmd.com/read/27606879/rna-binding-protein-fxr1-regulates-p21-and-terc-rna-to-bypass-p53-mediated-cellular-senescence-in-oscc
#16
Mrinmoyee Majumder, Reniqua House, Nallasivam Palanisamy, Shuo Qie, Terrence A Day, David Neskey, J Alan Diehl, Viswanathan Palanisamy
RNA-binding proteins (RBP) regulate numerous aspects of co- and post-transcriptional gene expression in cancer cells. Here, we demonstrate that RBP, fragile X-related protein 1 (FXR1), plays an essential role in cellular senescence by utilizing mRNA turnover pathway. We report that overexpressed FXR1 in head and neck squamous cell carcinoma targets (G-quadruplex (G4) RNA structure within) both mRNA encoding p21 (Cyclin-Dependent Kinase Inhibitor 1A (CDKN1A, Cip1) and the non-coding RNA Telomerase RNA Component (TERC), and regulates their turnover to avoid senescence...
September 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27606805/telomerase-in-acute-myeloid-leukemia-a-molecular-update-on-diagnosis-prognosis-and-treatment
#17
Lakshan N Fonseka, Carlos A Tirado
It is expected that 10,460 patients will die from acute myeloid leukemia (AML) in the United States in 2016. Despite progress in clinical management, AML patients still have a 25.9% survival rate in the U.S. Researchers have sought to further understand this hematological malignancy and a number of studies have focused on unveiling the role of telomerase in disease initiation, progression, and maintenance. Though the role of telomerase in diagnosis has remained relatively static, its role in prognosis and treatment has become much clearer...
2016: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/27587879/a-novel-terc-cr4-cr5-domain-mutation-causes-telomere-disease-via-decreased-tert-binding
#18
Baris Boyraz, Courtney M Bellomo, Mark D Fleming, Corey S Cutler, Suneet Agarwal
No abstract text is available yet for this article.
September 1, 2016: Blood
https://www.readbyqxmd.com/read/27586969/a-genetic-interaction-between-rap1-and-telomerase-reveals-an-unanticipated-role-for-rap1-in-telomere-maintenance
#19
Paula Martínez, Gonzalo Gómez-López, David G Pisano, Juana M Flores, Maria A Blasco
RAP1 is one of the components of shelterin, the capping complex at chromosome ends or telomeres, although its role in telomere length maintenance and protection has remained elusive. RAP1 also binds subtelomeric repeats and along chromosome arms, where it regulates gene expression and has been shown to function in metabolism control. Telomerase is the enzyme that elongates telomeres, and its deficiency causes a premature aging in humans and mice. We describe an unanticipated genetic interaction between RAP1 and telomerase...
September 1, 2016: Aging Cell
https://www.readbyqxmd.com/read/27566563/copy-number-gain-of-chromosome-3q-is-a-recurrent-event-in-patients-with-intraductal-papillary-mucinous-neoplasm-ipmn-associated-with-disease-progression
#20
Sandra Durante, Silvia Vecchiarelli, Annalisa Astolfi, Elisa Grassi, Riccardo Casadei, Donatella Santini, Riccardo Panzacchi, Claudio Ricci, Salvatore Serravalle, Giuseppe Tarantino, Mirella Falconi, Gabriella Teti, Valentina Indio, Andrea Pession, Francesco Minni, Guido Biasco, Mariacristina Di Marco
BACKGROUND: Intraductal papillary mucinous neoplasm (IPMN) is the most common cystic preneoplastic lesion of pancreatic cancer. We used an approach coupling high resolution cytogenetic analysis (Affymetrix Oncoscan FFPE Array) with clinically-oriented bioinformatic interpretation of data to understand the most relevant alterations of precursor lesions at different stages to identify new diagnostic markers. RESULTS: We identified multiple copy number alterations, particularly in lesions with severe dysplasia, with 7 IPMN with low-intermediate dysplasia carrying a nearly normal karyotype and 13 IPMN with complex Karyotype (> 4 alterations), showing high grade dysplasia...
August 22, 2016: Oncotarget
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