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https://www.readbyqxmd.com/read/30472699/long-term-follow-up-of-a-case-with-dyskeratosis-congenita-caused-by-nhp2-v126m-x154r-mutation-genotype-phenotype-association
#1
Melek Erdem, Özlem Tüfekçi, Şebnem Yılmaz, İnci Alacacıoğlu, Hale Ören
Dyskeratosis congenita (DC) is a rare inherited syndrome characterized by classical mucocutaneous features and the presence of other clinical features including bone marrow failure, pulmonary fibrosis, liver cirrhosis, and a predisposition to cancer. The symptoms develop at various ages and may manifest over time. Gene mutations associated with DC, such as DC1, TERC, TERT, TINF2, NHP2, NOP10, ACD, CTC1, NAF1, PARN, POT1, RTEL1, STN1, and WRAP53, have been identified in about 70% of patients. Since the number of patients with DC is small and the effect of genetic pathogenic variant may affect the phenotype, we wanted to present the clinical features and course of illness in a patient with NHP2 gene mutation (compound heterozygote for the NHP2 mutations c...
November 23, 2018: Acta Haematologica
https://www.readbyqxmd.com/read/30426156/epidemiological-clinical-and-genetic-characterization-of-aplastic-anemia-patients-in-pakistan
#2
Zaineb Akram, Parvez Ahmed, Sachiko Kajigaya, Tariq Mahmood Satti, Humayoon Shafique Satti, Qamar Un Nisa Chaudhary, Fernanda Gutierrez-Rodrigues, Pilar F Ibanez, Xingmin Feng, Syed Kamran Mahmood, Tariq Ghafoor, Nighat Shahbaz, Mehreen Ali Khan, Aneesa Sultan
Aplastic anemia (AA) is the most serious non-malignant blood disorder in Pakistan, ranked second in prevalence, after thalassemia. We investigated various epidemiological, clinical, and genetic factors of AA in a Pakistani cohort of 214 patients reporting at our hospital between June 2014 and December 2015. A control group of 214 healthy subjects was included for comparison of epidemiological and clinical features. Epidemiological data revealed 2.75-fold higher frequency of AA among males. A single peak of disease onset was observed between ages 10 and 29 years followed by a steady decline...
November 13, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/30325019/genetic-determinants-of-telomere-length-and-risk-of-pancreatic-cancer-a-pandora-study
#3
Daniele Campa, Martina Matarazzi, William Greenhalf, Maarten Bijlsma, Kai-Uwe Saum, Claudio Pasquali, Hanneke van Laarhoven, Andrea Szentesi, Francesca Federici, Pavel Vodicka, Niccola Funel, Raffaele Pezzilli, H Bas Bueno-de-Mesquita, Ludmila Vodickova, Daniela Basso, Ofure Obazee, Thilo Hackert, Pavel Soucek, Katarina Cuk, Jörg Kaiser, Cosimo Sperti, Martin Lovecek, Gabriele Capurso, Beatrice Mohelnikova-Duchonova, Kay-Tee Khaw, Anna-Katharina König, Juozas Kupcinskas, Rudolf Kaaks, Franco Bambi, Livia Archibugi, Andrea Mambrini, Giulia Martina Cavestro, Stefano Landi, Péter Hegyi, Jakob R Izbicki, Domenica Gioffreda, Carlo Federico Zambon, Francesca Tavano, Renata Talar-Wojnarowska, Krzysztof Jamroziak, Timothy J Key, Gianfranco Delle Fave, Oliver Strobel, Laimas Jonaitis, Angelo Andriulli, Rita T Lawlor, Felice Pirozzi, Verena Katzke, Chiara Valsuani, Yogesh K Vashist, Hermann Brenner, Federico Canzian
Telomere deregulation is a hallmark of cancer. Telomere length measured in lymphocytes (LTL) has been shown to be a risk marker for several cancers. For pancreatic ductal adenocarcinoma (PDAC) consensus is lacking whether risk is associated with long or short telomeres. Mendelian randomization approaches have shown that a score built from SNPs associated with LTL could be used as a robust risk marker. We explored this approach in a large scale study within the PANcreatic Disease ReseArch (PANDoRA) consortium...
October 16, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/30226466/genetic-predisposition-to-uterine-leiomyoma-is-determined-by-loci-for-genitourinary-development-and-genome-stability
#4
Niko Välimäki, Heli Kuisma, Annukka Pasanen, Oskari Heikinheimo, Jari Sjöberg, Ralf Bützow, Nanna Sarvilinna, Hanna-Riikka Heinonen, Jaana Tolvanen, Simona Bramante, Tomas Tanskanen, Juha Auvinen, Outi Uimari, Amjad Alkodsi, Rainer Lehtonen, Eevi Kaasinen, Kimmo Palin, Lauri A Aaltonen
Uterine leiomyomas (ULs) are benign tumors that are a major burden to women's health. A genome-wide association study on 15,453 UL cases and 392,628 controls was performed, followed by replication of the genomic risk in six cohorts. Effects of the risk alleles were evaluated in view of molecular and clinical characteristics. 22 loci displayed a genome-wide significant association. The likely predisposition genes could be grouped to two biological processes. Genes involved in genome stability were represented by TERT, TERC, OBFC1 - highlighting the role of telomere maintenance - TP53 and ATM ...
September 18, 2018: ELife
https://www.readbyqxmd.com/read/30210531/the-telomerase-complex-directly-controls-hematopoietic-stem-cell-differentiation-and-senescence-in-an-induced-pluripotent-stem-cell-model-of-telomeropathy
#5
Shyam Sushama Jose, Federico Tidu, Petra Burilova, Tomas Kepak, Kamila Bendickova, Jan Fric
Telomeropathies are rare disorders associated with impaired telomere length control mechanisms that frequently result from genetic mutations in the telomerase complex. Dyskeratosis congenita is a congenital progressive telomeropathy in which mutation in the telomerase RNA component ( TERC ) impairs telomere maintenance leading to accelerated cellular senescence and clinical outcomes resembling premature aging. The most severe clinical feature is perturbed hematopoiesis and bone-marrow failure, but the underlying mechanisms are not fully understood...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/30192712/fetal-growth-restriction-shortens-cardiac-telomere-length-but-this-is-attenuated-by-exercise-in-early-life
#6
Scott A Booth, Glenn D Wadley, Francine Z Marques, Mary E Wlodek, Fadi J Charchar
BACKGROUND AND AIMS: Fetal and postnatal growth restriction predispose to cardiovascular disease (CVD) in adulthood. Telomeres are repetitive DNA-protein structures that protect chromosome ends, and the loss of these repeats (a reduction in telomere length) is associated with CVD. As exercise preserves telomere length and cardiovascular health, the aim of this study was to determine the effects of growth restriction and exercise training on cardiac telomere length and telomeric genes...
September 7, 2018: Physiological Genomics
https://www.readbyqxmd.com/read/30145821/effects-of-telomerase-inhibitor-on-epigenetic-chromatin-modification-enzymes-in-malignancies
#7
Cigir Biray Avci, Fatma Dogan, Neslihan Pinar Ozates Ay, Bakiye Goker Bagca, Zeka Abbaszadeh, Cumhur Gunduz
Telomerase has a critical role in cell proliferation, tumor maintaining, and therapy resistance, which act by modifying many signaling pathways. 2-[(E)-3-Naphtalen-2-yl-but-2-enoylamino]-benzoic acid (BIBR1532) is one of the most studied telomerase inhibitors, and it targets telomerase components TERC and TERT. In this novel study, we aimed to investigate the epigenetic effects of BIBR1532 on both hematologic malignancies and solid tumors. K-562 human chronic myeloid leukemia cell line and U87MG glioblastoma cell line were compared with control groups without BIBR1532 treatment...
August 26, 2018: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/30055055/aplastic-anemia-etiology-molecular-pathogenesis-and-emerging-concepts
#8
REVIEW
Rory M Shallis, Rami Ahmad, Amer M Zeidan
Aplastic anemia (AA) is rare disorder of bone marrow failure which if severe and not appropriately treated is highly fatal. AA is characterized by morphologic marrow features, namely hypocellularity, and resultant peripheral cytopenias. The molecular pathogenesis of AA is not fully understood, and a uniform process may not be the culprit across all cases. An antigen-driven and likely autoimmune dysregulated T-cell homeostasis is implicated in the hematopoietic stem cell injury which ultimately founds the pathologic features of the disease...
December 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29976374/clinical-correlates-and-treatment-outcomes-for-patients-with-short-telomere-syndromes
#9
Abhishek A Mangaonkar, Alejandro Ferrer, Filippo Pinto E Vairo, Margot A Cousin, Ryan J Kuisle, Eric W Klee, Cassie C Kennedy, Steve G Peters, J P Scott, James P Utz, Misbah Baqir, Hiroshi Sekiguchi, Shakila P Khan, Vilmarie Rodriguez, Douglas A Simonetto, Patrick S Kamath, Roshini S Abraham, Mark E Wylam, Mrinal M Patnaik
Short telomere syndromes (STSs) are accelerated aging syndromes with multisystemic manifestations that present complex management challenges. In this article, we discuss a single-institution experience in diagnosing and managing patients with inherited STSs. In total, we identified 17 patients with short telomeres, defined by flow-fluorescence in-situ hybridization telomere lengths of less than first centile in granulocytes/lymphocytes OR the presence of a characteristic germline pathogenic variant in the context of a highly suggestive clinical phenotype...
July 2018: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/29891356/analysis-of-protein-altering-variants-in-telomerase-genes-and-their-association-with-muc5b-common-variant-status-in-patients-with-idiopathic-pulmonary-fibrosis-a-candidate-gene-sequencing-study
#10
Amy Dressen, Alexander R Abbas, Christopher Cabanski, Janina Reeder, Thirumalai R Ramalingam, Margaret Neighbors, Tushar R Bhangale, Matthew J Brauer, Julie Hunkapiller, Jens Reeder, Kiran Mukhyala, Karen Cuenco, Jennifer Tom, Amy Cowgill, Jan Vogel, William F Forrest, Harold R Collard, Paul J Wolters, Jonathan A Kropski, Lisa H Lancaster, Timothy S Blackwell, Joseph R Arron, Brian L Yaspan
BACKGROUND: Idiopathic pulmonary fibrosis (IPF) risk has a strong genetic component. Studies have implicated variations at several loci, including TERT, surfactant genes, and a single nucleotide polymorphism at chr11p15 (rs35705950) in the intergenic region between TOLLIP and MUC5B. Patients with IPF who have risk alleles at rs35705950 have longer survival from the time of IPF diagnosis than do patients homozygous for the non-risk allele, whereas patients with shorter telomeres have shorter survival times...
August 2018: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/29880812/hur-regulates-telomerase-activity-through-terc-methylation
#11
Hao Tang, Hu Wang, Xiaolei Cheng, Xiuqin Fan, Fan Yang, Mengmeng Zhang, Yanlian Chen, Yuyang Tian, Cihang Liu, Dongxing Shao, Bin Jiang, Yali Dou, Yusheng Cong, Junyue Xing, Xiaotian Zhang, Xia Yi, Zhou Songyang, Wenbin Ma, Yong Zhao, Xian Wang, Jinbiao Ma, Myriam Gorospe, Zhenyu Ju, Wengong Wang
Telomerase consists of the catalytic protein TERT and the RNA TERC. Mutations in TERC are linked to human diseases, but the underlying mechanisms are poorly understood. Here we report that the RNA-binding protein HuR associates with TERC and promotes the assembly of the TERC/TERT complex by facilitating TERC C106 methylation. Dyskeratosis congenita (DC)-related TERC U100A mutation impair the association of HuR with TERC, thereby reducing C106 methylation. Two other TERC mutations linked to aplastic anemia and autosomal dominant DC, G107U, and GC107/108AG, likewise disrupt methylation at C106...
June 7, 2018: Nature Communications
https://www.readbyqxmd.com/read/29804726/short-telomere-syndromes-in-clinical-practice-bridging-bench-and-bedside
#12
REVIEW
Abhishek A Mangaonkar, Mrinal M Patnaik
Short telomere syndromes (STSs) are accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. Consequently, organ systems with increased cell turnover, such as the skin, bone marrow, lungs, and gastrointestinal tract, are commonly affected. Owing to diverse clinical presentations, STSs pose a diagnostic challenge, with bone marrow failure and idiopathic pulmonary fibrosis being frequent manifestations, occurring in association with gene mutations involving DKC1 (for expansion of gene symbols, use search tool at www...
July 2018: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/29776440/radiological-pleuroparenchymal-fibroelastosis-associated-to-limited-cutaneous-systemic-sclerosis-a-case-report
#13
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
#14
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
#15
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/29596117/multiple-solid-organ-transplantation-in-telomeropathy-case-series-and-literature-review
#16
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/29483670/novel-variants-in-nordic-patients-referred-for-genetic-testing-of-telomere-related-disorders
#17
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...
June 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29474209/pulmonary-phenotypes-associated-with-genetic-variation-in-telomere-related-genes
#18
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
#19
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/29351466/telomerase-reverse-transcriptase-protects-against-angiotensin-ii-induced-microvascular-endothelial-dysfunction
#20
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 larger conduit arteries, excess ROS release and a corresponding loss of NO also occur in smaller resistance arteries of the microcirculation, but the 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)...
May 1, 2018: American Journal of Physiology. Heart and Circulatory Physiology
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