keyword
MENU ▼
Read by QxMD icon Read
search

Atrx

keyword
https://www.readbyqxmd.com/read/27869828/tumor-suppressor-genes-that-escape-from-x-inactivation-contribute-to-cancer-sex-bias
#1
Andrew Dunford, David M Weinstock, Virginia Savova, Steven E Schumacher, John P Cleary, Akinori Yoda, Timothy J Sullivan, Julian M Hess, Alexander A Gimelbrant, Rameen Beroukhim, Michael S Lawrence, Gad Getz, Andrew A Lane
There is a striking and unexplained male predominance across many cancer types. A subset of X-chromosome genes can escape X-inactivation, which would protect females from complete functional loss by a single mutation. To identify putative 'escape from X-inactivation tumor-suppressor' (EXITS) genes, we examined somatic alterations from >4,100 cancers across 21 tumor types for sex bias. Six of 783 non-pseudoautosomal region (PAR) X-chromosome genes (ATRX, CNKSR2, DDX3X, KDM5C, KDM6A, and MAGEC3) harbored loss-of-function mutations more frequently in males (based on a false discovery rate < 0...
November 21, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27863708/nuclear-distribution-of-the-chromatin-remodeling-protein-atrx-in-mouse-early-embryogenesis
#2
Zhuldyz K Sailau, Dmitry S Bogolyubov, Irina O Bogolyubova
The nucleus of mammalian embryos differs by transcriptional activity at different stages of early development. Here, we studied nuclear distribution of the chromatin-remodeling protein ATRX in pre-implantation mouse embryos. Immunofluorescent staining revealed the changes of ATRX nuclear distribution at the initial stages of early mouse development. At the stage of early zygote, a diffuse ATRX distribution pattern was prevalent. During the course of zygotic genome activation (ZGA), zones of increased ATRX concentration are observed, and they are most expressed in the nuclei of late 2-cell embryos...
November 15, 2016: Acta Histochemica
https://www.readbyqxmd.com/read/27834917/potential-role-of-methylation-marker-in-glioma-supporting-clinical-decisions
#3
Krzysztof Roszkowski, Jacek Furtak, Bogdan Zurawski, Tadeusz Szylberg, Marzena A Lewandowska
The IDH1/2 gene mutations, ATRX loss/mutation, 1p/19q status, and MGMT promoter methylation are increasingly used as prognostic or predictive biomarkers of gliomas. However, the effect of their combination on radiation therapy outcome is discussable. Previously, we demonstrated that the IDH1 c.G395A; p.R132H mutation was associated with longer survival in grade II astrocytoma and GBM (Glioblastoma). Here we analyzed the MGMT promoter methylation status in patients with a known mutation status in codon 132 of IDH1, followed by clinical and genetic data analysis based on the two statuses...
November 10, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27822342/characterization-and-genetic-manipulation-of-primed-stem-cells-into-a-functional-na%C3%A3-ve-state-with-esrrb
#4
Ricardo Antonio Rossello, Andreas Pfenning, Jason T Howard, Ute Hochgeschwender
AIM: To identify differences between primed mouse embryonic stem cells (ESCs) and fully functional naive ESCs; to manipulate primed cells into a naive state. METHODS: We have cultured 3 lines of cells from different mouse strains that have been shown to be naive or primed as determined by generating germline-transmitting chimeras. Cells were put through a battery of tests to measure the different features. RNA from cells was analyzed using microarrays, to determine a priority list of the differentially expressed genes...
October 26, 2016: World Journal of Stem Cells
https://www.readbyqxmd.com/read/27799281/classification-of-adult-diffuse-gliomas-by-molecular-markers-a-short-review-with-historical-footnote
#5
REVIEW
Ryohei Otani, Takeo Uzuka, Keisuke Ueki
Classification of gliomas, first established by Cushing and Bailey in early 20th century, has been based on histological features that were associated with clinical behavior of the tumor fairly well. However, inter-observer variation in the diagnosis and heterogeneous clinical outcome within a single entity have been problematic in some cases. Accumulation of molecular information of gliomas over the past two to three decades gradually elucidated the mechanism of oncogenesis and progression of gliomas at the molecular level, and it now appears to be possible to classify gliomas by the molecular markers, especially in adult diffuse gliomas that constitute ~25-30% of the primary intracranial tumors...
October 31, 2016: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/27796734/diagnostic-revision-of-206-adult-gliomas-including-40-oligoastrocytomas-based-on-atrx-idh1-2-and-1p-19q-status
#6
Marta Mellai, Laura Annovazzi, Rebecca Senetta, Carmine Dell'Aglio, Marta Mazzucco, Paola Cassoni, Davide Schiffer
The diagnosis of 206 low and high grade adult gliomas, including 40 oligoastrocytomas, was revised based on the immunohistochemical reactivity for the ATRX protein, IDH1/2 mutation status and 1p/19q chromosomal status. All oligodendrogliomas kept the initial diagnosis. Astrocytomas did not change diagnosis in 30 of 36 cases (83.3 %); four of 36 (11.1 %) cases were reclassified as oligodendroglioma, one (2.8 %) as DNT and the other (2.8 %) as reactive gliosis. Oligoastrocytomas changed diagnosis in 35 of 40 (87...
October 28, 2016: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/27793328/telomere-biology-including-tert-rearrangements-in-neuroblastoma-a-useful-indicator-for-surgical-treatments
#7
Masumi Kawashima, Masato Kojima, Yuka Ueda, Sho Kurihara, Eiso Hiyama
PURPOSE: Our telomere biology study of neuroblastomas (NBLs) has revealed that unfavorable NBLs acquired telomere stabilization by telomerase activation or ALT (alternative lengthening of telomeres). Recently, genomic rearrangements in a region proximal to the telomerase reverse transcriptase (TERT) gene have been discovered in NBLs. In this study, TERT rearrangements were examined in NBLs along with their relationship to other aspects of telomere biology. METHODS: In 121 NBLs, including 67 cases detected by mass-screening whose telomere length, telomerase activity, ALT with ATRX/DAXX alterations, and MYCN amplification were already known, TERT rearrangements were examined using GeneChip SNP arrays...
September 17, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27788029/establishment-of-anti-human-atrx-monoclonal-antibody-amab-6
#8
Satoshi Ogasawara, Yuki Fujii, Mika K Kaneko, Hiroharu Oki, Hemragul Sabit, Mitsutoshi Nakada, Hiroyoshi Suzuki, Koichi Ichimura, Takashi Komori, Yukinari Kato
Gliomas are the most frequently occurring brain tumors with a heterogeneous molecular background. The molecular subgrouping of gliomas more prognostically stratifies patients into distinct groups compared with conventional histological classification. The most important molecules for the subtype diagnosis of diffuse gliomas are mutations of isocitrate dehydrogenase (IDH), TERT promoter, and α-thalassemia/mental-retardation-syndrome-X-linked (ATRX) and the codeletion of 1p/19q. Among them, IDH and ATRX mutations can be diagnosed using specific monoclonal antibodies (mAbs)...
October 2016: Monoclonal Antibodies in Immunodiagnosis and Immunotherapy
https://www.readbyqxmd.com/read/27758882/mutant-idh1-expression-drives-tert-promoter-reactivation-as-part-of-the-cellular-transformation-process
#9
Shigeo Ohba, Joydeep Mukherjee, Tor-Christian Johannessen, Andrew Mancini, Tracy T Chow, Matthew Wood, Lindsey Jones, Tali Mazor, Roxanne E Marshall, Pavithra Viswanath, Kyle M Walsh, Arie Perry, Robert J A Bell, Joanna J Phillips, Joseph F Costello, Sabrina M Ronen, Russell O Pieper
Mutations in the isocitrate dehydrogenase gene IDH1 are common in low-grade glioma, where they result in the production of 2-hydroxyglutarate (2HG), disrupted patterns of histone methylation, and gliomagenesis. IDH1 mutations also cosegregate with mutations in the ATRX gene and the TERT promoter, suggesting that IDH mutation may drive the creation or selection of telomere-stabilizing events as part of immortalization/transformation process. To determine whether and how this may occur, we investigated the phenotype of pRb-/p53-deficient human astrocytes engineered with IDH1 wild-type (WT) or R132H-mutant (IDH1(mut)) genes as they progressed through their lifespan...
October 6, 2016: Cancer Research
https://www.readbyqxmd.com/read/27742788/translational-diagnostics-and-therapeutics-in-pancreatic-neuroendocrine-tumors
#10
EDITORIAL
Jessica E Maxwell, Scott K Sherman, James R Howe
Pancreatic neuroendocrine tumors (PNET) are rare tumors, but have been increasing in incidence. Although typically thought of as indolent, more than half of patients present with metastatic disease. For many years, the only mutations commonly known in these tumors were those in the MEN1 gene. Recently, the genetics underlying PNETs have been further defined through exome sequencing. The most frequent alterations found in sporadic PNETs are in MEN1, DAXX/ATRX, and a variety of genes in the mTOR pathway. Confirmation of these mutations has prompted trials with a number of drugs active in these pathways, and two drugs were eventually approved in 2011-sunitinib and everolimus...
October 15, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27718012/in-japanese-patients-with-papillary-thyroid-carcinoma-tert-promoter-mutation-is-associated-with-poor-prognosis-in-contrast-to-braf-v600e-mutation
#11
Almira Nasirden, Tsuyoshi Saito, Yuki Fukumura, Kieko Hara, Keisuke Akaike, Aiko Kurisaki-Arakawa, Miki Asahina, Atsushi Yamashita, Ran Tomomasa, Takuo Hayashi, Atsushi Arakawa, Takashi Yao
The prognostic value of BRAF (V600E) and TERT promoter mutation in papillary thyroid carcinoma (PTC) is controversial. We examined alterations in BRAF (V600E) and TERT promoter by PCR-direct sequencing in PTC of 144 Japanese patients. Alternative lengthening of telomeres was examined as another mechanism of telomere maintenance by immunohistochemical staining for ATRX and DAXX. Of the clinicopathological characteristics, regional lymph node metastasis, extra-thyroid extension, multifocality/intrathyroidal spread, and advanced stage (III/V) were associated with shorter disease-free survival rate (DFSR)...
December 2016: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/27713914/atrx-idh1-r132h-and-ki-67-immunohistochemistry-as-a-classification-scheme-for-astrocytic-tumors
#12
Jinquan Cai, Chuanbao Zhang, Wei Zhang, Guangzhi Wang, Kun Yao, Zhiliang Wang, Guanzhang Li, Zenghui Qian, Yongli Li, Tao Jiang, Chuanlu Jiang
Recurrence and progression to higher grade lesions are key biological events and characteristic behaviors in the evolution process of glioma. Malignant astrocytic tumors such as glioblastoma (GBM) are the most lethal intracranial tumors. However, the clinical practicability and significance of molecular parameters for the diagnostic and prognostic prediction of astrocytic tumors is still limited. In this study, we detected ATRX, IDH1-R132H and Ki-67 by immunohistochemistry and observed the association of IDH1-R132H with ATRX and Ki-67 expression...
2016: Oncoscience
https://www.readbyqxmd.com/read/27704386/molecular-and-histologic-characteristics-of-pseudoprogression-in-diffuse-gliomas
#13
Andrew L Lin, Michael White, Michelle M Miller-Thomas, Robert S Fulton, Christina I Tsien, Keith M Rich, Robert E Schmidt, David D Tran, Sonika Dahiya
During the 6 month period following chemoradiotherapy, gliomas frequently develop new areas of contrast enhancement, which are due to treatment effect rather than tumor progression. We sought to characterize this phenomenon in oligodendrogliomas (OG) and mixed oligoastrocytomas (MOA). We reviewed the imaging findings from 143 patients with a WHO grade II or III OG or MOA for evidence of pseudoprogression (PsP) or early tumor progression. We characterized these cases for 1p/19q codeletions by FISH, IDH1 R132H mutation by immunohistochemistry, and TP53, ATRX, and EGFR mutations by next generation sequencing...
October 4, 2016: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/27696251/targeted-next-generation-sequencing-for-tp53-ras-braf-alk-and-nf1-mutations-in-anaplastic-thyroid-cancer
#14
Soeren Latteyer, Vera Tiedje, Katharina König, Saskia Ting, Lukas C Heukamp, Lydia Meder, Kurt Werner Schmid, Dagmar Führer, Lars Christian Moeller
Anaplastic thyroid carcinoma (ATC) is the most aggressive thyroid cancer with a median survival of 4-6 months. Identification of mutations contributing to aberrant activation of signaling cascades in ATC may provide novel opportunities for targeted therapy. Thirty-nine ATC samples were studied by next-generation sequencing (NGS) with an established gene panel. High quality readout was obtained in 30/39 ATC. Twenty-eight ATC harbored a mutation in at least one of the studied genes: TP53 (18/30), NF1 (11/30), ALK (6/30), NRAS (4/30), ATRX (3/30), BRAF (2/30), HRAS (2/30), KRAS (1/30)...
October 1, 2016: Endocrine
https://www.readbyqxmd.com/read/27663587/alternative-lengthening-of-telomeres-in-primary-pancreatic-neuroendocrine-neoplasms-is-associated-with-aggressive-clinical-behavior-and-poor-survival
#15
Joo Young Kim, Jacqueline A Brosnan-Cashman, Soyeon An, Sung Joo Kim, Ki Byung Song, Min-Sun Kim, Mi-Ju Kim, Dae Wook Hwang, Alan K Meeker, Eunsil Yu, Song Cheol Kim, Ralph H Hruban, Christopher M Heaphy, Seung-Mo Hong
PURPOSE: Alternative lengthening of telomeres (ALT), a telomerase-independent telomere maintenance mechanism, is strongly associated with ATRX and DAXX alterations and occurs frequently in pancreatic neuroendocrine tumors (PanNETs). EXPERIMENTAL DESIGN: In a Korean cohort of 269 surgically resected primary PanNETs and 19 sporadic microadenomas, ALT status and nuclear ATRX and DAXX protein expression were assessed and compared with clinicopathologic factors. RESULTS: In PanNETs, ALT or loss of ATRX/DAXX nuclear expression was observed in 20...
September 23, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27634879/large-variety-in-a-panel-of-human-colon-cancer-organoids-in-response-to-ezh2-inhibition
#16
Martijn Aj Koppens, Gergana Bounova, Paulien Cornelissen-Steijger, Nienke de Vries, Owen J Sansom, Lodewyk Fa Wessels, Maarten van Lohuizen
EZH2 inhibitors have gained great interest for their use as anti-cancer therapeutics. However, most research has focused on EZH2 mutant cancers and recently adverse effects of EZH2 inactivation have come to light. To determine whether colorectal cancer cells respond to EZH2 inhibition and to explore which factors influence the degree of response, we treated a panel of 20 organoid lines derived from human colon tumors with different concentrations of the EZH2 inhibitor GSK126. The resulting responses were associated with mutation status, gene expression and responses to other drugs...
September 13, 2016: Oncotarget
https://www.readbyqxmd.com/read/27617217/inherited-xq13-2-q21-31-duplication-in-a-boy-with-recurrent-seizures-and-pubertal-gynecomastia-clinical-chromosomal-and-acgh-characterization
#17
Natália D Linhares, Eugênia R Valadares, Silvia S da Costa, Rodrigo R Arantes, Luiz Roberto de Oliveira, Carla Rosenberg, Angela M Vianna-Morgante, Marta Svartman
We report on a 16-year-old boy with a maternally inherited ~ 18.3 Mb Xq13.2-q21.31 duplication delimited by aCGH. As previously described in patients with similar duplications, his clinical features included intellectual disability, developmental delay, speech delay, generalized hypotonia, infantile feeding difficulties, self-injurious behavior, short stature and endocrine problems. As additional findings, he presented recurrent seizures and pubertal gynecomastia. His mother was phenotypically normal and had completely skewed inactivation of the duplicated X chromosome, as most female carriers of such duplications...
September 2016: Meta Gene
https://www.readbyqxmd.com/read/27604789/in-vivo-molecular-profiling-of-human-glioma-using-diffusion-kurtosis-imaging
#18
Johann-Martin Hempel, Sotirios Bisdas, Jens Schittenhelm, Cornelia Brendle, Benjamin Bender, Henk Wassmann, Marco Skardelly, Ghazaleh Tabatabai, Salvador Castaneda Vega, Ulrike Ernemann, Uwe Klose
The purpose of this study is to assess the diagnostic performance of diffusion kurtosis imaging (DKI) for in vivo molecular profiling of human glioma. Normalized mean kurtosis (MKn) and mean diffusivity (MDn) metrics from DKI were assessed in 50 patients with histopathologically confirmed glioma. The results were compared in regard to the WHO-based histological findings and molecular characteristics leading to integrated diagnosis (Haarlem Consensus): isocitrate-dehydrogenase (IDH1/2) mutation status, alpha-thalassemia/mental retardation syndrome X-linked (ATRX) expression, chromosome 1p/19q loss of heterozygosity (LOH), and O6-methylguanine DNA methyltransferase (MGMT) promoter methylation status...
September 7, 2016: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/27594433/retinal-interneuron-survival-requires-non-cell-autonomous-atrx-activity
#19
Pamela S Lagali, Chantal F Medina, Brandon Y H Zhao, Keqin Yan, Adam N Baker, Stuart G Coupland, Catherine Tsilfidis, Valerie A Wallace, David J Picketts
ATRX is a chromatin remodeling protein that is mutated in several intellectual disability disorders including alpha-thalassemia/mental retardation, X-linked (ATR-X) syndrome. We previously reported the prevalence of ophthalmological defects in ATR-X syndrome patients, and accordingly we find morphological and functional visual abnormalities in a mouse model harbouring a mutation occurring in ATR-X patients. The visual system abnormalities observed in these mice parallels the Atrx-null retinal phenotype characterized by interneuron defects and selective loss of amacrine and horizontal cells...
September 4, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27590521/deep-targeted-sequencing-in-pediatric-acute-lymphoblastic-leukemia-unveils-distinct-mutational-patterns-between-genetic-subtypes-and-novel-relapse-associated-genes
#20
C Mårten Lindqvist, Anders Lundmark, Jessica Nordlund, Eva Freyhult, Diana Ekman, Jonas Carlsson Almlöf, Amanda Raine, Elin Övernäs, Jonas Abrahamsson, Britt-Marie Frost, Dan Grandér, Mats Heyman, Josefine Palle, Erik Forestier, Gudmar Lönnerholm, Eva C Berglund, Ann-Christine Syvänen
To characterize the mutational patterns of acute lymphoblastic leukemia (ALL) we performed deep next generation sequencing of 872 cancer genes in 172 diagnostic and 24 relapse samples from 172 pediatric ALL patients. We found an overall greater mutational burden and more driver mutations in T-cell ALL (T-ALL) patients compared to B-cell precursor ALL (BCP-ALL) patients. In addition, the majority of the mutations in T-ALL had occurred in the original leukemic clone, while most of the mutations in BCP-ALL were subclonal...
August 31, 2016: Oncotarget
keyword
keyword
6651
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"