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https://www.readbyqxmd.com/read/28884947/confirmation-of-an-arid2-defect-in-swi-snf-related-intellectual-disability
#1
Ruben Van Paemel, Pauline De Bruyne, Saskia van der Straaten, Marleen D'hondt, Urlien Fränkel, Annelies Dheedene, Björn Menten, Bert Callewaert
We present a 4-year-old girl with delayed neuromotor development, short stature of prenatal onset, and specific behavioral and craniofacial features harboring an intragenic deletion in the ARID2 gene. The phenotype confirmed the major features of the recently described ARID2-related intellectual disability syndrome. However, our patient showed overlapping features with Nicolaides-Baraitser syndrome and Coffin-Siris syndrome, providing further arguments to reclassify these disorders as "SWI/SNF-related intellectual disability syndromes...
September 8, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28648284/common-molecular-subtypes-among-asian-hepatocellular-carcinoma-and-cholangiocarcinoma
#2
Jittiporn Chaisaingmongkol, Anuradha Budhu, Hien Dang, Siritida Rabibhadana, Benjarath Pupacdi, So Mee Kwon, Marshonna Forgues, Yotsawat Pomyen, Vajarabhongsa Bhudhisawasdi, Nirush Lertprasertsuke, Anon Chotirosniramit, Chawalit Pairojkul, Chirayu U Auewarakul, Thaniya Sricharunrat, Kannika Phornphutkul, Suleeporn Sangrajrang, Maggie Cam, Ping He, Stephen M Hewitt, Kris Ylaya, Xiaolin Wu, Jesper B Andersen, Snorri S Thorgeirsson, Joshua J Waterfall, Yuelin J Zhu, Jennifer Walling, Holly S Stevenson, Daniel Edelman, Paul S Meltzer, Christopher A Loffredo, Natsuko Hama, Tatsuhiro Shibata, Robert H Wiltrout, Curtis C Harris, Chulabhorn Mahidol, Mathuros Ruchirawat, Xin W Wang
Intrahepatic cholangiocarcinoma (ICC) and hepatocellular carcinoma (HCC) are clinically disparate primary liver cancers with etiological and biological heterogeneity. We identified common molecular subtypes linked to similar prognosis among 199 Thai ICC and HCC patients through systems integration of genomics, transcriptomics, and metabolomics. While ICC and HCC share recurrently mutated genes, including TP53, ARID1A, and ARID2, mitotic checkpoint anomalies distinguish the C1 subtype with key drivers PLK1 and ECT2, whereas the C2 subtype is linked to obesity, T cell infiltration, and bile acid metabolism...
July 10, 2017: Cancer Cell
https://www.readbyqxmd.com/read/28529542/frequency-and-geographic-distribution-of-tert-promoter-mutations-in-primary-hepatocellular-carcinoma
#3
REVIEW
Francesca Pezzuto, Luigi Buonaguro, Franco M Buonaguro, Maria Lina Tornesello
Primary hepatocellular carcinoma (HCC) mainly develops in subjects chronically infected with hepatitis B (HBV) and C (HCV) viruses through a multistep process characterized by the accumulation of genetic alterations in the human genome. Nucleotide changes in coding regions (i.e. TP53, CTNNB1, ARID1A and ARID2) as well as in non-coding regions (i.e. TERT promoter) are considered cancer drivers for HCC development with variable frequencies in different geographic regions depending on the etiology and environmental factors...
2017: Infectious Agents and Cancer
https://www.readbyqxmd.com/read/28498550/hbx-protein-mediated-atoh1-downregulation-suppresses-arid2-expression-and-promotes-hepatocellular-carcinoma
#4
Qingzhu Gao, Kai Wang, Ke Chen, Li Liang, Yaqiu Zheng, Yunzhi Zhang, Jin Xiang, Ni Tang
Hepatitis B virus X protein plays a crucial role in the pathogenesis of hepatocellular carcinoma. We previously showed that the tumor suppressor ARID2 inhibits hepatoma cell cycle progression and tumor growth. Here, we evaluated whether hepatitis B virus X protein was involved in the modulation of ARID2 expression and hepatocarcinogenesis associated with hepatitis B virus infection. ARID2 expression was downregulated in HBV-replicative hepatoma cells, HBV transgenic mice, and HBV-related clinical HCC tissues...
July 2017: Cancer Science
https://www.readbyqxmd.com/read/28494807/concordant-clear-cell-mesonephric-carcinoma-of-the-bladder-and-lung-adenocarcinoma-with-clear-cell-features-multiple-primaries-versus-metastatic-neoplasms-a-case-report
#5
Sarmad H Jassim, Amer Khiyami, Jane K Nguyen, Santhi Ganesan, Joseph Tomashefski, Joram Sawady
BACKGROUND: Clear cell carcinoma of the bladder is a rare variant of urinary bladder adenocarcinoma. We report a case of a patient with clear cell carcinoma of the bladder and a concordant right upper lobe pulmonary adenocarcinoma with clear cell features, and we address the role of immunohistochemistry and cytogenetic analysis in distinguishing the two primary malignancies. CASE PRESENTATION: Our patient was a 59-year-old African American woman who presented with hematuria...
May 12, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28438527/the-baf-brg1-brm-associated-factor-chromatin-remodeling-complex-exhibits-ethanol-sensitivity-in-fetal-neural-progenitor-cells-and-regulates-transcription-at-the-mir-9-2-encoding-gene-locus
#6
Sasha G Burrowes, Nihal A Salem, Alexander M Tseng, Sridevi Balaraman, Marisa R Pinson, Cadianna Garcia, Rajesh C Miranda
Fetal alcohol spectrum disorders are a leading cause of intellectual disability worldwide. Previous studies have shown that developmental ethanol exposure results in loss of microRNAs (miRNAs), including miR-9, and loss of these miRNAs, in turn, mediates some of ethanol's teratogenic effects in the developing brain. We previously found that ethanol increased methylation at the miR-9-2 encoding gene locus in mouse fetal neural stem cells (NSC), advancing a mechanism for epigenetic silencing of this locus and consequently, miR-9 loss in NSCs...
May 2017: Alcohol
https://www.readbyqxmd.com/read/28381560/the-chromatin-remodeling-subunit-baf200-promotes-homology-directed-dna-repair-and-regulates-distinct-chromatin-remodeling-complexes
#7
Rodrigo O de Castro, Luciana Previato, Victor Goitea, Anna Felberg, Michel F Guiraldelli, Adrian Filiberti, Roberto J Pezza
The efficiency and type of pathway chosen to repair DNA double-strand breaks (DSBs) are critically influenced by the nucleosome packaging and the chromatin architecture surrounding the DSBs. The Swi/Snf (PBAF and BAF) chromatin-remodeling complexes contribute to DNA damage-induced nucleosome remodeling, but the mechanism by which it contributes to this function is poorly understood. Herein, we report how the Baf200 (Arid2) PBAF-defining subunit regulates DSB repair. We used cytological and biochemical approaches to show that Baf200 plays an important function by facilitating homologous recombination-dependent processes, such as recruitment of Rad51 (a key component of homologous recombination) to DSBs, homology-directed repair, and cell survival after DNA damage...
May 19, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28238438/arid2-modulates-dna-damage-response-in-human-hepatocellular-carcinoma-cells
#8
Atsushi Oba, Shu Shimada, Yoshimitsu Akiyama, Taketo Nishikawaji, Kaoru Mogushi, Hiromitsu Ito, Satoshi Matsumura, Arihiro Aihara, Yusuke Mitsunori, Daisuke Ban, Takanori Ochiai, Atsushi Kudo, Hiroshi Asahara, Atsushi Kaida, Masahiko Miura, Minoru Tanabe, Shinji Tanaka
BACKGROUND & AIMS: Recent genomic studies have identified frequent mutations of AT-rich interactive domain 2 (ARID2) in hepatocellular carcinoma (HCC), but it is not still understood how ARID2 exhibits tumor suppressor activities. METHODS: We established the ARID2 knockout human HCC cell lines by using CRISPR/Cas9 system, and investigated the gene expression profiles and biological functions. RESULTS: Bioinformatic analysis indicated that UV-response genes were negatively regulated in the ARID2 knockout cells, and they were sensitized to UV irradiation...
May 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28210865/the-impact-of-melanoma-genetics-on-treatment-response-and-resistance-in-clinical-and-experimental-studies
#9
M Kunz, M Hölzel
Recent attempts to characterize the melanoma mutational landscape using high-throughput sequencing technologies have identified new genes and pathways involved in the molecular pathogenesis of melanoma. Apart from mutated BRAF, NRAS, and KIT, a series of new recurrently mutated candidate genes with impact on signaling pathways have been identified such as NF1, PTEN, IDH1, RAC1, ARID2, and TP53. Under targeted treatment using BRAF and MEK1/2 inhibitors either alone or in combination, a majority of patients experience recurrences, which are due to different genetic mechanisms such as gene amplifications of BRAF or NRAS, MEK1/2 and PI3K mutations...
March 2017: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/28179590/whole-exome-sequencing-identified-mutational-profiles-of-high-grade-colon-adenomas
#10
Sung Hak Lee, Seung Hyun Jung, Tae-Min Kim, Je-Keun Rhee, Hyeon-Chun Park, Min Sung Kim, Sung Soo Kim, Chang Hyeok An, Sug Hyung Lee, Yeun-Jun Chung
Although gene-to-gene analyses identified genetic alterations such as APC, KRAS and TP53 mutations in colon adenomas, it is largely unknown whether there are any others in them. Mutational profiling of high-grade colon adenoma (HGCA) that just precedes colon carcinoma might identify not only novel adenoma-specific genes but also critical genes for its progression to carcinoma. For this, we performed whole-exome sequencing (WES) of 12 HGCAs and identified 11 non-hypermutated and one hypermutated (POLE-mutated) cases...
January 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28124119/heterozygosity-for-arid2-loss-of-function-mutations-in-individuals-with-a-coffin-siris-syndrome-like-phenotype
#11
Nuria C Bramswig, O Caluseriu, H-J Lüdecke, F V Bolduc, N C L Noel, T Wieland, H M Surowy, H-J Christen, H Engels, T M Strom, D Wieczorek
Chromatin remodeling is a complex process shaping the nucleosome landscape, thereby regulating the accessibility of transcription factors to regulatory regions of target genes and ultimately managing gene expression. The SWI/SNF (switch/sucrose nonfermentable) complex remodels the nucleosome landscape in an ATP-dependent manner and is divided into the two major subclasses Brahma-associated factor (BAF) and Polybromo Brahma-associated factor (PBAF) complex. Somatic mutations in subunits of the SWI/SNF complex have been associated with different cancers, while germline mutations have been associated with autism spectrum disorder and the neurodevelopmental disorders Coffin-Siris (CSS) and Nicolaides-Baraitser syndromes (NCBRS)...
March 2017: Human Genetics
https://www.readbyqxmd.com/read/27834349/differentiated-exophytic-vulvar-intraepithelial-lesions-are-genetically-distinct-from-keratinizing-squamous-cell-carcinomas-and-contain-mutations-in-pik3ca
#12
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
#13
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
#14
Uwe Hillen, Florian Grabellus, Cindy Franklin, Antje Sucker, Dirk Schadendorf, Bastian Schilling
No abstract text is available yet for this article.
December 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
#15
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...
February 2017: 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
#16
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...
August 1, 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
#17
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...
July 19, 2016: Oncotarget
https://www.readbyqxmd.com/read/27270314/whole-exome-sequencing-to-identify-somatic-mutations-in-peritoneal-metastatic-gastric-adenocarcinoma-a-preliminary-study
#18
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...
July 12, 2016: Oncotarget
https://www.readbyqxmd.com/read/27203213/genetic-landscape-of-t-and-nk-cell-post-transplant-lymphoproliferative-disorders
#19
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
#20
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...
June 28, 2016: Oncotarget
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