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https://www.readbyqxmd.com/read/28546523/alk-protein-expression-is-related-to-neuroblastoma-aggressiveness-but-is-not-independent-prognostic-factor
#1
Ji Won Lee, Sung Hye Park, Hyoung Jin Kang, Kyung Duk Park, Hee Young Shin, Hyo Seop Ahn
Purpose: In this study, anaplastic lymphoma kinase (ALK) mutation and amplification, ALK protein expression, loss of the nuclear alpha thalassemia/mental retardation syndrome X-linked (ATRX) protein, and telomerase reverse transcriptase (TERT) protein expression were studied to investigate potential correlations between these molecular characteristics and clinical features or outcomes in neuroblastoma. Materials and Methods: Seventy-two patients were enrolled in this study...
May 22, 2017: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/28535583/molecular-testing-of-brain-tumor
#2
REVIEW
Sung-Hye Park, Jaekyung Won, Seong-Ik Kim, Yujin Lee, Chul-Kee Park, Seung-Ki Kim, Seung-Hong Choi
The World Health Organization (WHO) classification of central nervous system (CNS) tumors was revised in 2016 with a basis on the integrated diagnosis of molecular genetics. We herein provide the guidelines for using molecular genetic tests in routine pathological practice for an accurate diagnosis and appropriate management. While astrocytomas and IDH-mutant (secondary) glioblastomas are characterized by the mutational status of IDH, TP53 , and ATRX , oligodendrogliomas have a 1p/19q codeletion and mutations in IDH, CIC , FUBP1 , and the promoter region of telomerase reverse transcriptase ( TERTp )...
May 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/28510731/letter-retention-of-atrx-and-daxx-expression-in-meningiomas
#3
Gina Fürtjes, Katharina Heß, Andrea Wagner, Volker Senner, Caroline Brokinkel, Walter Stummer, Benjamin Brokinkel
No abstract text is available yet for this article.
April 20, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28488024/glioma-grading-and-determination-of-idh-mutation-status-and-atrx-loss-by-dce-and-asl-perfusion
#4
Cornelia Brendle, Johann-Martin Hempel, Jens Schittenhelm, Marco Skardelly, Ghazaleh Tabatabai, Benjamin Bender, Ulrike Ernemann, Uwe Klose
PURPOSE: To evaluate arterial spin labeling (ASL) perfusion and dynamic contrast-enhanced (DCE) perfusion in glioma grading according to the previous WHO classification of 2007, as well as concerning isocitrate dehydrogenase (IDH) mutation status and ATRX expression as required by the new WHO 2016 brain tumor classification. METHODS: The mean values of Ktrans, Kep, Ve, and Vp by DCE perfusion, and cerebral blood flow (CBF) by ASL perfusion were assessed retrospectively in 40 patients with initial glioma diagnosis...
May 9, 2017: Clinical Neuroradiology
https://www.readbyqxmd.com/read/28487353/the-chromatin-remodelling-factor-atrx-suppresses-r-loops-in-transcribed-telomeric-repeats
#5
Diu Tt Nguyen, Hsiao Phin J Voon, Barbara Xella, Caroline Scott, David Clynes, Christian Babbs, Helena Ayyub, Jon Kerry, Jacqueline A Sharpe, Jackie A Sloane-Stanley, Sue Butler, Chris A Fisher, Nicki E Gray, Thomas Jenuwein, Douglas R Higgs, Richard J Gibbons
ATRX is a chromatin remodelling factor found at a wide range of tandemly repeated sequences including telomeres (TTAGGG)n ATRX mutations are found in nearly all tumours that maintain their telomeres via the alternative lengthening of telomere (ALT) pathway, and ATRX is known to suppress this pathway. Here, we show that recruitment of ATRX to telomeric repeats depends on repeat number, orientation and, critically, on repeat transcription. Importantly, the transcribed telomeric repeats form RNA-DNA hybrids (R-loops) whose abundance correlates with the recruitment of ATRX Here, we show loss of ATRX is also associated with increased R-loop formation...
May 9, 2017: EMBO Reports
https://www.readbyqxmd.com/read/28484589/idh1-or-2-mutations-do-not-predict-outcome-and-do-not-cause-loss-of-5-hydroxymethylcytosine-or-altered-histone-modifications-in-central-chondrosarcomas
#6
Arjen H G Cleven, Johnny Suijker, Georgios Agrogiannis, Inge H Briaire-de Bruijn, Norma Frizzell, Attje S Hoekstra, Pauline M Wijers-Koster, Anne-Marie Cleton-Jansen, Judith V M G Bovée
BACKGROUND: Mutations in isocitrate dehydrogenase (IDH)1 or -2 are found in ~50% of conventional central chondrosarcomas and in up to 87% of their assumed benign precursors enchondromas. The mutant enzyme acquires the activity to convert α-ketoglutarate into the oncometabolite d-2-hydroxyglutarate (d-2-HG), which competitively inhibits α-ketoglutarate dependent enzymes such as histone- and DNA demethylases. METHODS: We therefore evaluated the effect of IDH1 or -2 mutations on histone modifications (H3K4me3, H3K9me3 and H3K27me3), chromatin remodeler ATRX expression, DNA modifications (5-hmC and 5-mC), and TET1 subcellular localization in a genotyped cohort (IDH, succinate dehydrogenase (SDH) and fumarate hydratase (FH)) of enchondromas and central chondrosarcomas (n = 101) using immunohistochemistry...
2017: Clinical Sarcoma Research
https://www.readbyqxmd.com/read/28467829/whole-genome-landscapes-of-major-melanoma-subtypes
#7
Nicholas K Hayward, James S Wilmott, Nicola Waddell, Peter A Johansson, Matthew A Field, Katia Nones, Ann-Marie Patch, Hojabr Kakavand, Ludmil B Alexandrov, Hazel Burke, Valerie Jakrot, Stephen Kazakoff, Oliver Holmes, Conrad Leonard, Radhakrishnan Sabarinathan, Loris Mularoni, Scott Wood, Qinying Xu, Nick Waddell, Varsha Tembe, Gulietta M Pupo, Ricardo De Paoli-Iseppi, Ricardo E Vilain, Ping Shang, Loretta M S Lau, Rebecca A Dagg, Sarah-Jane Schramm, Antonia Pritchard, Ken Dutton-Regester, Felicity Newell, Anna Fitzgerald, Catherine A Shang, Sean M Grimmond, Hilda A Pickett, Jean Y Yang, Jonathan R Stretch, Andreas Behren, Richard F Kefford, Peter Hersey, Georgina V Long, Jonathan Cebon, Mark Shackleton, Andrew J Spillane, Robyn P M Saw, Núria López-Bigas, John V Pearson, John F Thompson, Richard A Scolyer, Graham J Mann
Melanoma of the skin is a common cancer only in Europeans, whereas it arises in internal body surfaces (mucosal sites) and on the hands and feet (acral sites) in people throughout the world. Here we report analysis of whole-genome sequences from cutaneous, acral and mucosal subtypes of melanoma. The heavily mutated landscape of coding and non-coding mutations in cutaneous melanoma resolved novel signatures of mutagenesis attributable to ultraviolet radiation. However, acral and mucosal melanomas were dominated by structural changes and mutation signatures of unknown aetiology, not previously identified in melanoma...
May 11, 2017: Nature
https://www.readbyqxmd.com/read/28452859/tert-mediated-and-atrx-mediated-telomere-maintenance-and-neuroblastoma
#8
Xiao-Feng Duan, Qiang Zhao
Neuroblastomas (NB) are one of the most common extracranial solid tumors in children, and they frequently display high heterogeneity in the disease course. With ongoing research, more information regarding the genetic etiology and molecular mechanisms underlying these contrasting phenotypes is being uncovered. The proto-oncogene MYCN is amplified in approximately 20% of NB cases and is considered a indicator of poor prognosis and an indicator of high-risk NB. The poor prognosis of high risk NB is incompletely explained by MYCN amplification...
April 27, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28451993/key-rates-for-the-grades-and-transformation-ability-of-glioma-model-simulations-and-clinical-cases
#9
Elizabeth Scribner, James R Hackney, Hannah C Machemehl, Reina Afiouni, Krishna R Patel, Hassan M Fathallah-Shaykh
Tumor progression to higher grade is a fundamental property of cancer. The malignant advancement of the pathological features may either develop during the later stages of cancer growth (natural evolution) or it may necessitate new mutations or molecular events that alter the rates of growth, dispersion, or neovascularization (transformation). Here, we model the pathological and radiological features of grades 2-4 gliomas at the times of diagnosis and death and study grade development and the progression to higher grades...
April 27, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28446958/syndromic-disorder-of-sex-development-due-to-a-novel-hemizygous-mutation-in-the-carboxyl-terminal-domain-of-atrx
#10
Masaki Takagi, Hiroko Yagi, Ryuji Fukuzawa, Satoshi Narumi, Tomonobu Hasegawa
Alpha-thalassemia/mental retardation syndrome X-linked (ATRX; OMIM #301040), which is caused by mutations in the ATRX gene, is characterized by alpha-thalassemia, distinct dysmorphic facies, psychomotor development delay and genital abnormalities. Here, we describe a neonatal case of syndromic disorder of sex development, harboring a novel hemizygous mutation, p.Asp2352fs*1 in the carboxyl-terminal domain of ATRX. Our study provides additional evidence that deletion of the carboxyl terminus of ATRX is associated with severe genital anomalies...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28419269/dual-genotype-diffuse-low-grade-glioma-is-it-really-time-to-abandon-oligoastrocytoma-as-a-distinct-entity
#11
Valeria Barresi, Simona Lionti, Laura Valori, Giovanna Gallina, Maria Caffo, Sabrina Rossi
We report a unique case of dual-genotype oligoastrocytoma characterized by IDH2 gene mutation. The tumor was resected from the temporal lobe of a 25-year-old man. At histological examination with hematoxylin and eosin stain, it showed distinct oligodendroglial and astrocytic areas. The former retained alpha-thalassaemia/mental retardation X-linked (ATRX) immuno-expression and had absent staining for p53, while the latter had ATRX loss and p53 over-expression. Molecular analyses were separately assessed in the 2 tumor components...
May 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28395727/-preparation-and-identification-of-the-polyclonal-antibody-against-atrx-c2193-2492
#12
Shuangyang Tang, Zhimin Liu, Ranhui Li, Yan Chen, Lanhua Zhao, Haiyan Shen, Yanping Wan
Objective To prepare the polyclonal antibody against human alpha thalassemia/mental retardation syndrome X-linked (ATRX) C-terminal and study the distribution and expression of ATRX protein in human cervical cancer tissues. Methods The antiserum was obtained from the BALB/c mice immunized with (6)His-ATRX-C2193-2492 protein and then purified by the saturated ammonium sulfate precipitation and affinity chromatography. The titer of anti-ATRX polyclonal antibody was determined by ELISA. Its specificity was identified by SDS-PAGE analysis and Western blotting...
April 2017: Xi Bao Yu Fen Zi Mian Yi Xue za Zhi, Chinese Journal of Cellular and Molecular Immunology
https://www.readbyqxmd.com/read/28392842/dna-methylation-signatures-for-2016-who-classification-subtypes-of-diffuse-gliomas
#13
Yashna Paul, Baisakhi Mondal, Vikas Patil, Kumaravel Somasundaram
BACKGROUND: Glioma is the most common of all primary brain tumors with poor prognosis and high mortality. The 2016 World Health Organization classification of the tumors of central nervous system uses molecular parameters in addition to histology to redefine many tumor entities. The new classification scheme divides diffuse gliomas into low-grade glioma (LGG) and glioblastoma (GBM) as per histology. LGGs are further divided into isocitrate dehydrogenase (IDH) wild type or mutant, which is further classified into either oligodendroglioma that harbors 1p/19q codeletion or diffuse astrocytoma that has an intact 1p/19q loci but enriched for ATRX loss and TP53 mutation...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28371511/alternative-lengthening-of-telomeres-and-atrx-daxx-loss-can-be-reliably-detected-in-fnas-of-pancreatic-neuroendocrine-tumors
#14
Christopher J VandenBussche, Derek B Allison, Mindy K Graham, Vivek Charu, Anne Marie Lennon, Christopher L Wolfgang, Ralph H Hruban, Christopher M Heaphy
BACKGROUND: Pancreatic neuroendocrine tumors (PanNETs) frequently use the alternative lengthening of telomeres (ALT) pathway for telomere maintenance. ALT is strongly correlated with α thalassemia-mental retardation, X linked (ATRX), and death domain-associated protein 6 (DAXX) alterations and a poor prognosis in patients with primary PanNET. Because fine-needle aspiration (FNA) is a noninvasive way to sample tumors, the authors evaluated whether they could accurately detect ALT and loss of ATRX/DAXX in a primary PanNET cohort of FNAs...
April 3, 2017: Cancer
https://www.readbyqxmd.com/read/28371217/inherited-germline-atrx-mutation-in-two-brothers-with-atr-x-syndrome-and-osteosarcoma
#15
Jianling Ji, Catherine Quindipan, David Parham, Lishuang Shen, David Ruble, Moiz Bootwalla, Dennis T Maglinte, Xiaowu Gai, Sulagna C Saitta, Jaclyn A Biegel, Leo Mascarenhas
We report a family in which two brothers had an undiagnosed genetic disorder comprised of dysmorphic features, microcephaly, severe intellectual disability (non-verbal), mild anemia, and cryptorchidism. Both developed osteosarcoma. Trio exome sequencing (using blood samples from the younger brother and both parents) was performed and a nonsense NM_000489.4:c.7156C>T (p.Arg2386*) mutation in the ATRX gene was identified in the proband (hemizygous) and in the mother's peripheral blood DNA (heterozygous). The mother is healthy, does not exhibit any clinical manifestations of ATR-X syndrome and there was no family history of cancer...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28368372/ercc1-xpf-cooperates-with-ctcf-and-cohesin-to%C3%A2-facilitate-the-developmental-silencing-of-imprinted%C3%A2-genes
#16
Georgia Chatzinikolaou, Zivkos Apostolou, Tamara Aid-Pavlidis, Anna Ioannidou, Ismene Karakasilioti, Giorgio L Papadopoulos, Michalis Aivaliotis, Maria Tsekrekou, John Strouboulis, Theodore Kosteas, George A Garinis
Inborn defects in DNA repair are associated with complex developmental disorders whose causal mechanisms are poorly understood. Using an in vivo biotinylation tagging approach in mice, we show that the nucleotide excision repair (NER) structure-specific endonuclease ERCC1-XPF complex interacts with the insulator binding protein CTCF, the cohesin subunits SMC1A and SMC3 and with MBD2; the factors co-localize with ATRX at the promoters and control regions (ICRs) of imprinted genes during postnatal hepatic development...
May 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28363510/x-linked-cobalamin-disorder-hcfc1-mimicking-nonketotic-hyperglycinemia-with-increased-both-cerebrospinal-fluid-glycine-and-methylmalonic-acid
#17
Emmanuel Scalais, Elise Osterheld, Christiane Weitzel, Linda De Meirleir, Frederic Mataigne, Geert Martens, Tamim H Shaikh, Curtis R Coughlin, Hung-Chun Yu, Michael Swanson, Marisa W Friederich, Gunter Scharer, Daniel Helbling, Jamie Wendt-Andrae, Johan L K Van Hove
BACKGROUND: Autosomal recessive or X-linked inborn errors of intracellular cobalamin metabolism can lead to methylmalonic aciduria and homocystinuria. In neonates, both increased cerebrospinal fluid glycine and cerebrospinal fluid/plasma glycine ratio are biochemical features of nonketotic hyperglycinemia. METHODS: We describe a boy presenting in the neonatal period with hypotonia, tonic, clonic, and later myoclonic seizures, subsequently evolving into refractory epilepsy and severe neurocognitive impairment...
January 7, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28358373/myogenic-differentiation-triggers-pml-nuclear-body-loss-and-daxx-relocalization-to-chromocentres
#18
Jayme Salsman, Lindsy M Rapkin, Nandini N Margam, Roy Duncan, David P Bazett-Jones, Graham Dellaire
The promyelocytic leukemia protein (PML) is expressed in most normal human tissues and forms nuclear bodies (NBs) that have roles in gene regulation and cellular processes such as DNA repair, cell cycle control, and cell fate decisions. Using murine C2C12 myoblasts, we demonstrate that activation of skeletal muscle differentiation results in loss of PML and PML NBs prior to myotube fusion. Myotube formation was associated with marked chromatin reorganization and the relocalization of DAXX from PML NBs to chromocentres...
March 30, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28341773/pml-protein-organizes-heterochromatin-domains-where-it-regulates-histone-h3-3-deposition-by-atrx-daxx
#19
Erwan Delbarre, Kristina Ivanauskiene, Jane Spirkoski, Akshay Shah, Kristin Vekterud, Jan Øivind Moskaug, Stig Ove Bøe, Lee Wong, Thomas Küntziger, Philippe Collas
Maintenance of chromatin homeostasis involves proper delivery of histone variants to the genome. The interplay between different chaperones regulating the supply of histone variants to distinct chromatin domains is largely undeciphered. We report here a role of promyelocytic leukemia (PML) protein in routing histone variant H3.3 to chromatin and in the organization of megabase-size heterochromatic PML-associated domains which we call PADs. Loss of PML alters the heterochromatic state of PADs by shifting the histone H3 methylation balance from K9me3 to K27me3...
March 24, 2017: Genome Research
https://www.readbyqxmd.com/read/28334823/h3-y-discriminates-between-hira-and-daxx-chaperone-complexes-and-reveals-unexpected-insights-into-human-daxx-h3-3-h4-binding-and-deposition-requirements
#20
Lisa-Maria Zink, Erwan Delbarre, H Christian Eberl, Eva C Keilhauer, Clemens Bönisch, Sebastian Pünzeler, Marek Bartkuhn, Philippe Collas, Matthias Mann, Sandra B Hake
Histone chaperones prevent promiscuous histone interactions before chromatin assembly. They guarantee faithful deposition of canonical histones and functionally specialized histone variants into chromatin in a spatial- and temporally-restricted manner. Here, we identify the binding partners of the primate-specific and H3.3-related histone variant H3.Y using several quantitative mass spectrometry approaches, and biochemical and cell biological assays. We find the HIRA, but not the DAXX/ATRX, complex to recognize H3...
February 21, 2017: Nucleic Acids Research
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