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https://www.readbyqxmd.com/read/27834349/differentiated-exophytic-vulvar-intraepithelial-lesions-are-genetically-distinct-from-keratinizing-squamous-cell-carcinomas-and-contain-mutations-in-pik3ca
#1
Jaclyn C Watkins, Brooke E Howitt, Neil S Horowitz, Lauren L Ritterhouse, Fei Dong, Laura E MacConaill, Elizabeth Garcia, Neal I Lindeman, Larissa J Lee, Ross S Berkowitz, Marisa R Nucci, Christopher P Crum
Human papillomavirus-negative keratinizing vulvar cancers typically harbor TP53 mutations as do their precursors, differentiated vulvar intraepithelial neoplasia. However, atypical verruciform proliferations are also associated with these malignancies and their pathogenesis is poorly understood. This study compared 11 atypical verruciform lesions, including atypical verruciform hyperplasia, vulvar acanthosis with altered differentiation, and verruciform lichen simplex chronicus, with 14 human papillomavirus-negative keratinizing squamous cell carcinomas...
November 11, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/27748065/intragenic-cnvs-for-epigenetic-regulatory-genes-in-intellectual-disability-survey-identifies-pathogenic-and-benign-single-exon-changes
#2
Farah R Zahir, Tracy Tucker, Sonia Mayo, Carolyn J Brown, Emilia L Lim, Jonathan Taylor, Marco A Marra, Fadi F Hamdan, Jacques L Michaud, Jan M Friedman
The disruption of genes involved in epigenetic regulation is well known to cause Intellectual Disability (ID). We reported a custom microarray study that interrogated among others, the epigenetic regulatory gene-class, at single exon resolution. Here we elaborate on identified intragenic CNVs involving epigenetic regulatory genes; specifically discussing those in three genes previously unreported in ID etiology-ARID2, KDM3A, and ARID4B. The changes in ARID2 and KDM3A are likely pathogenic while the ARID4B variant is uncertain...
November 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27680605/oncogene-status-of-an-interdigitating-dendritic-cell-sarcoma-recurrent-mutations-in-nf1-tp53-and-arid2-shared-with-melanoma
#3
Uwe Hillen, Florian Grabellus, Cindy Franklin, Antje Sucker, Dirk Schadendorf, Bastian Schilling
No abstract text is available yet for this article.
September 27, 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27431016/ibrutinib-downregulates-a-subset-of-mirna-leading-to-upregulation-of-tumor-suppressors-and-inhibition-of-cell-proliferation-in-chronic-lymphocytic-leukemia
#4
L M Saleh, W Wang, S E M Herman, N S Saba, V Anastas, E Barber, M Corrigan-Cummins, M Farooqui, C Sun, S M Sarasua, Z Zhao, N K Abousamra, O Elbaz, H A Abdelghaffar, A Wiestner, K R Calvo
The lymph node (LN) is the site of chronic lymphocytic leukemia (CLL) cell activation and proliferation. Aberrant microRNA (miRNA) expression has been shown to have a role in CLL pathogenesis; however, a comparison of miRNA expression between CLL cells in the LN and the peripheral blood (PB) has previously not been reported. On the basis of the analysis of 17 paired LN and PB samples from CLL patients, we identify a panel of miRNAs that are increased in LN CLL cells correlating with an activation phenotype...
July 19, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27413115/the-many-roles-of-baf-mswi-snf-and-pbaf-complexes-in-cancer
#5
REVIEW
Courtney Hodges, Jacob G Kirkland, Gerald R Crabtree
During the last decade, a host of epigenetic mechanisms were found to contribute to cancer and other human diseases. Several genomic studies have revealed that ∼20% of malignancies have alterations of the subunits of polymorphic BRG-/BRM-associated factor (BAF) and Polybromo-associated BAF (PBAF) complexes, making them among the most frequently mutated complexes in cancer. Recurrent mutations arise in genes encoding several BAF/PBAF subunits, including ARID1A, ARID2, PBRM1, SMARCA4, and SMARCB1 These subunits share some degree of conservation with subunits from related adenosine triphosphate (ATP)-dependent chromatin remodeling complexes in model organisms, in which a large body of work provides insight into their roles in cancer...
2016: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/27351279/chromatin-remodeling-gene-arid2-targets-cyclin-d1-and-cyclin-e1-to-suppress-hepatoma-cell-progression
#6
Yujie Duan, Ling Tian, Qingzhu Gao, Li Liang, Wenlu Zhang, Yi Yang, Yaqiu Zheng, E Pan, Shengwei Li, Ni Tang
Exome and whole-genome sequencing studies have drawn attention to the role of somatic mutations in SWI/SNF chromatin remodeling complexes in the carcinogenesis of hepatocellular carcinoma (HCC). Here, we explored the molecular mechanisms underlying the biological roles of AT-rich interactive domain 2 (ARID2) in the pathogenesis of HCC. We found that ARID2 expression was significantly downregulated in HCC tissues compared with non-tumorous tissues. Restoration of ARID2 expression in hepatoma cells was sufficient to suppress cell proliferation and tumor growth in mice, whereas ARID2 knockdown contributed to the enhancement of cellular proliferation and tumorigenicity...
June 23, 2016: Oncotarget
https://www.readbyqxmd.com/read/27270314/whole-exome-sequencing-to-identify-somatic-mutations-in-peritoneal-metastatic-gastric-adenocarcinoma-a-preliminary-study
#7
Hao Liu, Fengping Li, Yu Zhu, Tingting Li, Haipeng Huang, Tian Lin, Yanfeng Hu, Xiaolong Qi, Jiang Yu, Guoxin Li
Peritoneal metastasis occurs in more than half of patients with unresectable or recurrent gastric cancer and is associated with the worst prognosis. The associated genomic events and pathogenesis remain ambiguous. The aim of the present study was to characterize the mutation spectrum of gastric cancer with peritoneal metastasis and provide a basis for the identification of new biomarkers and treatment targets. Matched pairs of normal gastric mucosa and peritoneal tissue and matched pairs of primary tumor and peritoneal metastasis were collected from one patient for whole-exome sequencing (WES); Sanger sequencing was employed to confirm the somatic mutations...
May 30, 2016: Oncotarget
https://www.readbyqxmd.com/read/27203213/genetic-landscape-of-t-and-nk-cell-post-transplant-lymphoproliferative-disorders
#8
Elizabeth Margolskee, Vaidehi Jobanputra, Preti Jain, Jinli Chen, Karthik Ganapathi, Odelia Nahum, Brynn Levy, Julie Morscio, Vundavalli Murty, Thomas Tousseyn, Bachir Alobeid, Mahesh Mansukhani, Govind Bhagat
Post-transplant lymphoproliferative disorders of T- or NK-cell origin (T/NK-PTLD) are rare entities and their genetic basis is unclear. We performed targeted sequencing of 465 cancer-related genes and high-resolution copy number analysis in 17 T-PTLD and 2 NK-PTLD cases. Overall, 377 variants were detected, with an average of 20 variants per case. Mutations of epigenetic modifier genes (TET2, KMT2C, KMT2D, DNMT3A, ARID1B, ARID2, KDM6B, n=11). and inactivation of TP53 by mutation and/or deletion(n=6) were the most frequent alterations, seen across disease subtypes, followed by mutations of JAK/STAT pathway genes (n=5)...
June 21, 2016: Oncotarget
https://www.readbyqxmd.com/read/27175599/the-chronological-sequence-of-somatic-mutations-in-early-gastric-carcinogenesis-inferred-from-multiregion-sequencing-of-gastric-adenomas
#9
Chul-Hyun Lim, Yu Kyung Cho, Sang Woo Kim, Myung-Gyu Choi, Je-Keun Rhee, Yeun-Jun Chung, Sug-Hyung Lee, Tae-Min Kim
Mutation profiles and intratumoral heterogeneity are not well understood for benign gastric adenomas, some of which progress into malignant gastric adenocarcinomas. In this study, we performed whole-exome sequencing of three microsatellite stable (MSS) and two microsatellite instability-high (MSI-H) gastric adenomas with three regional tumor biopsies per case. We observed that the mutation abundance of benign gastric adenomas was comparable to those of gastric adenocarcinomas, suggesting that the mutational makeup for gastric carcinogenesis may already be achieved in benign adenomas...
May 9, 2016: Oncotarget
https://www.readbyqxmd.com/read/27095763/-the-regulation-of-cd44-expression-by-new-tumor-suppressor-gene-arid2-and-the-influence-of-arid2-on-the-invasion-and-metastasis-in-hepatocellular-carcinoma-cells
#10
L Tian, Y J Duan, L Z Nie, Z Li, Z Chen, Q Z Gao, Y Yang, N Tang, J Zheng
OBJECTIVE: To investigate the effect of a new tumor-suppressor gene Arid2 on the expression level of CD44 and the mechanism that Arid2 regulates the invasion and metastasis in human hepatocellular carcinoma cells HepG2 and Huh7. METHODS: Recombinant pGL3-CD44 reporter plasmids were transfected into hepatoma cell lines HepG2 and Huh7 cells infected with adenovirus Arid2(Ad-Arid2). Dual luciferase assays were used to determine the relative luciferase activities of reporter plasmids...
March 20, 2016: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/27050151/genetically-defined-novel-oral-squamous-cell-carcinoma-cell-lines-for-the-development-of-molecular-therapies
#11
Muhammad Zaki Hidayatullah Fadlullah, Ivy Kim-Ni Chiang, Kalen R Dionne, Pei San Yee, Chai Phei Gan, Kin Kit Sam, Kai Hung Tiong, Adrian Kwok Wen Ng, Daniel Martin, Kue Peng Lim, Thomas George Kallarakkal, Wan Mahadzir Wan Mustafa, Shin Hin Lau, Mannil Thomas Abraham, Rosnah Binti Zain, Zainal Ariff Abdul Rahman, Alfredo Molinolo, Vyomesh Patel, J Silvio Gutkind, Aik Choon Tan, Sok Ching Cheong
Emerging biological and translational insights from large sequencing efforts underscore the need for genetically-relevant cell lines to study the relationships between genomic alterations of tumors, and therapeutic dependencies. Here, we report a detailed characterization of a novel panel of clinically annotated oral squamous cell carcinoma (OSCC) cell lines, derived from patients with diverse ethnicity and risk habits. Molecular analysis by RNAseq and copy number alterations (CNA) identified that the cell lines harbour CNA that have been previously reported in OSCC, for example focal amplications in 3q, 7p, 8q, 11q, 20q and deletions in 3p, 5q, 8p, 18q...
May 10, 2016: Oncotarget
https://www.readbyqxmd.com/read/27035278/microrna-155-promotes-tumor-growth-of-human-hepatocellular-carcinoma-by-targeting-arid2
#12
Li Zhang, Wei Wang, Xiaobin Li, Sai He, Jianfeng Yao, Xiaolong Wang, Di Zhang, Xuejun Sun
Aberrant expression of microRNA-155 (miR-155) has been reported in several human cancers and is associated with prognosis of patients. However, the clinical significance of miR‑155 and its underlying mechanisms involved in hepatocarcinogenesis remain to be determined. In this study, we demonstrated that the expression of miR-155 was elevated in both hepatocellular carcinoma (HCC) tissues and cell lines. Clinical association analysis revealed that high expression of miR-155 was correlated with malignant clinicopathological characteristics including large tumor size, high Edmondson-Steiner grading and TNM tumor stage...
June 2016: International Journal of Oncology
https://www.readbyqxmd.com/read/27020472/meta-analysis-of-gene-environment-wide-association-scans-accounting-for-education-level-identifies-additional-loci-for-refractive-error
#13
Qiao Fan, Virginie J M Verhoeven, Robert Wojciechowski, Veluchamy A Barathi, Pirro G Hysi, Jeremy A Guggenheim, René Höhn, Veronique Vitart, Anthony P Khawaja, Kenji Yamashiro, S Mohsen Hosseini, Terho Lehtimäki, Yi Lu, Toomas Haller, Jing Xie, Cécile Delcourt, Mario Pirastu, Juho Wedenoja, Puya Gharahkhani, Cristina Venturini, Masahiro Miyake, Alex W Hewitt, Xiaobo Guo, Johanna Mazur, Jenifer E Huffman, Katie M Williams, Ozren Polasek, Harry Campbell, Igor Rudan, Zoran Vatavuk, James F Wilson, Peter K Joshi, George McMahon, Beate St Pourcain, David M Evans, Claire L Simpson, Tae-Hwi Schwantes-An, Robert P Igo, Alireza Mirshahi, Audrey Cougnard-Gregoire, Céline Bellenguez, Maria Blettner, Olli Raitakari, Mika Kähönen, Ilkka Seppala, Tanja Zeller, Thomas Meitinger, Janina S Ried, Christian Gieger, Laura Portas, Elisabeth M van Leeuwen, Najaf Amin, André G Uitterlinden, Fernando Rivadeneira, Albert Hofman, Johannes R Vingerling, Ya Xing Wang, Xu Wang, Eileen Tai-Hui Boh, M Kamran Ikram, Charumathi Sabanayagam, Preeti Gupta, Vincent Tan, Lei Zhou, Candice E H Ho, Wan'e Lim, Roger W Beuerman, Rosalynn Siantar, E-Shyong Tai, Eranga Vithana, Evelin Mihailov, Chiea-Chuen Khor, Caroline Hayward, Robert N Luben, Paul J Foster, Barbara E K Klein, Ronald Klein, Hoi-Suen Wong, Paul Mitchell, Andres Metspalu, Tin Aung, Terri L Young, Mingguang He, Olavi Pärssinen, Cornelia M van Duijn, Jie Jin Wang, Cathy Williams, Jost B Jonas, Yik-Ying Teo, David A Mackey, Konrad Oexle, Nagahisa Yoshimura, Andrew D Paterson, Norbert Pfeiffer, Tien-Yin Wong, Paul N Baird, Dwight Stambolian, Joan E Bailey Wilson, Ching-Yu Cheng, Christopher J Hammond, Caroline C W Klaver, Seang-Mei Saw, Jugnoo S Rahi, Jean-François Korobelnik, John P Kemp, Nicholas J Timpson, George Davey Smith, Jamie E Craig, Kathryn P Burdon, Rhys D Fogarty, Sudha K Iyengar, Emily Chew, Sarayut Janmahasatian, Nicholas G Martin, Stuart MacGregor, Liang Xu, Maria Schache, Vinay Nangia, Songhomitra Panda-Jonas, Alan F Wright, Jeremy R Fondran, Jonathan H Lass, Sheng Feng, Jing Hua Zhao, Kay-Tee Khaw, Nick J Wareham, Taina Rantanen, Jaakko Kaprio, Chi Pui Pang, Li Jia Chen, Pancy O Tam, Vishal Jhanji, Alvin L Young, Angela Döring, Leslie J Raffel, Mary-Frances Cotch, Xiaohui Li, Shea Ping Yip, Maurice K H Yap, Ginevra Biino, Simona Vaccargiu, Maurizio Fossarello, Brian Fleck, Seyhan Yazar, Jan Willem L Tideman, Milly Tedja, Margaret M Deangelis, Margaux Morrison, Lindsay Farrer, Xiangtian Zhou, Wei Chen, Nobuhisa Mizuki, Akira Meguro, Kari Matti Mäkelä
Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error...
March 29, 2016: Nature Communications
https://www.readbyqxmd.com/read/26998897/whole-exome-sequencing-of-duodenal-adenocarcinoma-identifies-recurrent-wnt-%C3%AE-catenin-signaling-pathway-mutations
#14
Wei Yuan, Zhou Zhang, Binghua Dai, Qing Wei, Jinjin Liu, Yuzhen Liu, Yun Liu, Lin He, Daizhan Zhou
BACKGROUND: Genomic alterations of small bowel cancers remain poorly understood due to the rarity of these diseases. In the current study, the authors report the identification of somatic mutations from patients with duodenal adenocarcinoma by whole-exome sequencing. METHODS: Whole-exome sequencing and follow-up analysis were conducted in 12 matched tumor-normal tissue duodenal adenocarcinoma tissue pairs to examine the genetic characteristics of this disease. Somatic mutations (single-nucleotide variants and short insertion/deletions) were obtained and filtered and then searched for recurrently mutated genes and pathways...
June 1, 2016: Cancer
https://www.readbyqxmd.com/read/26920370/targeted-next-generation-sequencing-for-molecular-diagnosis-of-endometriosis-associated-ovarian-cancer
#15
Tze-Kiong Er, Yu-Fa Su, Chun-Chieh Wu, Chih-Chieh Chen, Jing Wang, Tsung-Hua Hsieh, Marta Herreros-Villanueva, Wan-Tzu Chen, Yi-Ting Chen, Ta-Chih Liu, Hung-Sheng Chen, Eing-Mei Tsai
UNLABELLED: Recent molecular and pathological studies suggest that endometriosis may serve as a precursor of ovarian cancer (endometriosis-associated ovarian cancer, EAOC), especially of the endometrioid and clear cell subtypes. Accordingly, this study had two cardinal aims: first, to obtain mutation profiles of EAOC from Taiwanese patients; and second, to determine whether somatic mutations present in EAOC can be detected in preneoplastic lesions. Formalin-fixed paraffin-embedded (FFPE) tissues were obtained from ten endometriosis patients with malignant transformation...
July 2016: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/26812616/early-stage-induction-of-swi-snf-mutations-during-esophageal-squamous-cell-carcinogenesis
#16
Hidetsugu Nakazato, Hideyuki Takeshima, Takayoshi Kishino, Emi Kubo, Naoko Hattori, Takeshi Nakajima, Satoshi Yamashita, Hiroyasu Igaki, Yuji Tachimori, Yukio Kuniyoshi, Toshikazu Ushijima
The SWI/SNF chromatin remodeling complex is frequently inactivated by somatic mutations of its various components in various types of cancers, and also by aberrant DNA methylation. However, its somatic mutations and aberrant methylation in esophageal squamous cell carcinomas (ESCCs) have not been fully analyzed. In this study, we aimed to clarify in ESCC, what components of the SWI/SNF complex have somatic mutations and aberrant methylation, and when somatic mutations of the SWI/SNF complex occur. Deep sequencing of components of the SWI/SNF complex using a bench-top next generation sequencer revealed that eight of 92 ESCCs (8...
2016: PloS One
https://www.readbyqxmd.com/read/26716708/genome-wide-transcriptional-regulation-mediated-by-biochemically-distinct-swi-snf-complexes
#17
Jesse R Raab, Samuel Resnick, Terry Magnuson
Multiple positions within the SWI/SNF chromatin remodeling complex can be filled by mutually exclusive subunits. Inclusion or exclusion of these proteins defines many unique forms of SWI/SNF and has profound functional consequences. Often this complex is studied as a single entity within a particular cell type and we understand little about the functional relationship between these biochemically distinct forms of the remodeling complex. Here we examine the functional relationships among three complex-specific ARID (AT-Rich Interacting Domain) subunits using genome-wide chromatin immunoprecipitation, transcriptome analysis, and transcription factor binding maps...
December 2015: PLoS Genetics
https://www.readbyqxmd.com/read/26637902/loss-of-arid1a-arid1b-and-arid2-expression-during-progression-of-gastric-cancer
#18
Tatsuya Aso, Hiroshi Uozaki, Shigeki Morita, Arisa Kumagai, Masato Watanabe
BACKGROUND/AIM: Gastric cancer is a common cancer worldwide. Chromatin remodeling complexes have emerged as tumor suppressors and include AT-rich interaction domain-containing proteins (ARIDs) 1A, 1B, and 2. We examined their expression and clarified their roles in gastric carcinogenesis. MATERIALS AND METHODS: The expression of ARIDs was studied by immunohistochemistry in 469 gastric carcinoma and 47 adenoma samples and was analyzed according to clinicopathological factors...
December 2015: Anticancer Research
https://www.readbyqxmd.com/read/26634163/clinicopathological-and-targeted-exome-gene-features-of-a-patient-with-metastatic-acinic-cell-carcinoma-of-the-parotid-gland-harboring-an-arid2-nonsense-mutation-and-cdkn2a-b-deletion
#19
Wayne A Warner, Deborah J Wong, Fernando Palma-Diaz, Terry Y Shibuya, Jamil Momand
We describe the presentation, treatment, clinical outcome, and targeted genome analysis of a metastatic salivary acinic cell carcinoma (AciCC). A 71-year-old male presented with a 3 cm right tail of a parotid lesion, first detected as a nodule by the patient seven months earlier. He had a right total parotidectomy with cranial nerve VII resection, right facial nerve resection and grafting, resection of the right conchal cartilage, and right modified radical neck dissection. The primary tumor revealed AciCC with two distinct areas: a well-differentiated component with glandular architecture and a dedifferentiated component with infiltrative growth pattern associated with prominent stromal response, necrosis, perineural invasion, and cellular pleomorphism...
2015: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/26284269/arid2-p110%C3%AE-p53-and-%C3%AE-catenin-protein-expression-in-hepatocellular-carcinoma-and-clinicopathologic-implications
#20
Jason You, Hushan Yang, Yinzhi Lai, Lindsay Simon, Jen Au, Ashlie L Burkart
ARID2 (ARID2), CTNNB1 (β catenin), tumor protein 53 (p53), and PIK3CA (p110α) mutations are implicated in hepatocellular carcinoma (HCC); and previous work has contributed to thorough molecular characterization of these events. However, studies that assess the impact of these mutations on downstream protein expression, especially those that evaluate all 4 cancer markers simultaneously, are relatively lacking. Hence, the present study uses immunohistochemistry to assess protein expression patterns of ARID2, β-catenin, p53, and p110α in HCCs and adjacent nonneoplastic cirrhotic tissues from 58 explanted livers...
July 2015: Human Pathology
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