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https://www.readbyqxmd.com/read/29099495/a-novel-genetic-and-morphologic-phenotype-of-arid2-mediated-myelodysplasia
#1
H Sakai, N Hosono, H Nakazawa, B Przychodzen, C Polprasert, H E Carraway, M A Sekeres, T Radivoyevitch, K Yoshida, M Sanada, T Yoshizato, K Kataoka, M M Nakagawa, H Ueno, Y Nannya, A Kon, Y Shiozawa, J Takeda, Y Shiraishi, K Chiba, S Miyano, J Singh, R A Padgett, S Ogawa, J P Maciejewski, H Makishima
Leukemia accepted article preview online, 03 November 2017. doi:10.1038/leu.2017.319.
November 3, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29072391/analysis-of-arid2-gene-mutation-in-oral-squamous-cell-carcinoma
#2
Lakshmi Prabha Das, Raghuram Hari Pitty, Kannan Asokan, Krithika C L, Anandi M S, Arvind Ramanathan
Background: The ARID2 gene, encoding a sub unit of the chromatin remodelling complex, has a possible tumour suppressor function and has been found to be frequently mutated in various tumours, including gingivo buccal oral squamous cell carcinomas. The present study was designed to analyse the presence of ARID2 gene mutations in the distinct genetic South Indian (Dravidian) population. Materials and Methods: Genomic DNA from thirty biopsy tissue samples of histopathologically confirmed cases of oral squamous cell carcinoma (OSCC) were subjected to PCR amplification with intronic primers encompassing exons 19 and 20 of ARID2...
October 26, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/29024220/differential-expression-of-key-subunits-of-swi-snf-chromatin-remodeling-complexes-in-porcine-embryos-derived-in-vitro-or-in-vivo
#3
Birgit Cabot, Yu-Chun Tseng, Jennifer S Crodian, Ryan Cabot
In vitro embryo production is an established method for both humans and animals, but is fraught with inferior development and health issues in offspring born after in vitro fertilization procedures. Analysis of epigenetic changes caused by exposure to in vitro conditions should shed light on potential sources of these phenotypes. Using immunocytochemistry, we investigated the localization and relative abundance of components associated with the SWI/SNF (Switch/Sucrose non-fermentable) chromatin-remodeling complex-including BAF155, BAF170, BAF180, BAF53A, BAF57, BAF60A, BAF45D, ARID1A, ARID1B, ARID2, SNF5, and BRD7-in oocytes and in in vitro-produced and in vivo-derived porcine embryos...
October 10, 2017: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/28981154/variation-in-swi-snf-chromatin-remodeling-complex-proteins-is-associated-with-alcohol-dependence-and-antisocial-behavior-in-human-populations
#4
Laura D Mathies, Fazil Aliev, Andrew G Davies, Danielle M Dick, Jill C Bettinger
BACKGROUND: Testing for direct gene or single nucleotide polymorphism replication of association across studies may not capture the true importance of a candidate locus; rather, we suggest that relevant replication across studies may be found at the level of a biological process. We previously observed that variation in 2 members of the switching defective/sucrose nonfermenting (SWI/SNF) chromatin remodeling complex is associated with alcohol dependence (AD) in the Irish Affected Sib Pair Study for Alcohol Dependence...
October 5, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28944851/microrna%C3%A2-96-regulates-the-proliferation-of-nucleus-pulposus-cells-by-targeting-arid2-akt-signaling
#5
Bo Tao, Jiaoyu Yi, Changzhao Huang, Wang Xu, Chao Qin, Lei Chen, Jincai Chen, Yan Gao, Ruiying Wang
The aberrant proliferation of nucleus pulposus (NP) cells has been reported to be implicated in the pathogenesis of intervertebral disc degeneration (IDD). Previous studies have demonstrated that microRNAs (miRNAs), which are a group of small noncoding RNAs, are critical regulators of cell proliferation in various pathologies. However, the role of miRNA‑96 (miR‑96) in the proliferation of NP cells remains to be determined. In the present study, reverse transcription‑quantitative polymerase chain reaction was used to investigate the expression of miR‑96 in NP tissues from patients with IDD and healthy tissues from patients with traumatic lumbar fracture as the control...
November 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28884947/confirmation-of-an-arid2-defect-in-swi-snf-related-intellectual-disability
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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