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Arid1b

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https://www.readbyqxmd.com/read/29610389/-fgfr1-tyrosine-kinase-domain-duplication-in-pilocytic-astrocytoma-with-anaplasia
#1
Leomar Y Ballester, Marta Penas-Prado, Norman E Leeds, Jason T Huse, Gregory N Fuller
We report the case of a 27-yr-old male with visual field loss who had a 4.9-cm complex cystic mass in the right occipital lobe. Histologic examination showed pilocytic astrocytoma (PA) with anaplasia, and molecular characterization revealed FGFR1 duplication with additional variants of unknown significance in several genes ( ARID1A, ARID1B, CHEK2, EPHA5, and MLL2 ). This is one of only a very few reported cases of anaplastic PA with characterization of molecular alterations.
April 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29596882/swi-snf-subunit-expression-heterogeneity-in-human-aplastic-anemia-stem-progenitors
#2
Sayantani Sinha, Shankha Subhra Chatterjee, Mayukh Biswas, Arijit Nag, Debasis Banerjee, Rajib De, Amitava Sengupta
Acquired aplastic anemia (AA) is a bone marrow failure that is associated with auto-immune destruction of hematopoietic stem cells (HSCs). Although somatic mutations have been identified in AA patients, mutations alone would not suffice understanding AA pathophysiology. SWI/SNF is an evolutionarily conserved, multi-subunit, ATP-dependent chromatin remodeling protein complex that plays important role in mammalian hematopoiesis. Herein, gene expression analysis identified a significant loss of SWI/SNF core component SMARCC1 along with ARID1B, ACTL6A and SMARCD1 in human AA bone marrow CD34+ HSC and progenitors (HSPCs) compared to normal HSPCs...
March 26, 2018: Experimental Hematology
https://www.readbyqxmd.com/read/29576263/sequencing-a-super-multiple-synchronous-lung-cancer-reveals-a-novel-variant-in-driver-gene-arid1b
#3
Kai Su, Shugeng Gao, Jianming Ying, Shuangmei Zou, Jie He
No abstract text is available yet for this article.
March 6, 2018: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29549119/the-case-for-early-use-of-rapid-whole-genome-sequencing-in-management-of-critically-ill-infants-late-diagnosis-of-coffin-siris-syndrome-in-an-infant-with-left-congenital-diaphragmatic-hernia-congenital-heart-disease-and-recurrent-infections
#4
Nathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, Miguel Del Campo, Marilyn C Jones, David P Dimmock, Stephen F Kingsmore, Rcigm Investigators
Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease and pulmonary hypertension. Genetically, it is associated with aneuploidies, chromosomal copy number variants, and single gene mutations. CDH is the most expensive non-cardiac congenital defect: Management frequently requires implementation of Extracorporeal Membrane Oxygenation (ECMO), which increases management expenditures 2...
March 16, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29526365/arid1b-from-the-garden-of-eden-to-the-sahara
#5
EDITORIAL
Jules Lin
No abstract text is available yet for this article.
February 8, 2018: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29505425/next-generation-sequencing-reveals-recurrent-somatic-mutations-in-small-cell-neuroendocrine-carcinoma-of-the-uterine-cervix
#6
Deyin Xing, Gang Zheng, John Kenneth Schoolmeester, Zaibo Li, Aparna Pallavajjala, Lisa Haley, Michael G Conner, Russell Vang, Chien-Fu Hung, Tzyy-Choou Wu, Brigitte M Ronnett
Small cell neuroendocrine carcinoma (SCNEC) of the uterine cervix is a rare but extremely aggressive tumor. While high-risk human papillomavirus (HPV) is involved at an early stage of oncogenesis in many tumors, additional driving events have been postulated to facilitate the progression of SCNECs. Identification of oncogenic drivers could guide targeted therapy of this neoplasm. Clinicopathologic features of 10 cervical SCNECs are reported. Analyses included immunohistochemical evaluation of p16, p53, synaptophysin, and chromogranin expression; in situ hybridizations and polymerase chain reaction for high-risk HPV and/or HPV 18; and next-generation sequencing based on a 637-gene panel...
March 2, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29504208/hepatomegaly-in-a-boy-with-arid1b-related-coffin-siris-syndrome
#7
Takenori Natsume, Kyoko Takano, Mitsuo Motobayashi, Tomoki Kosho
No abstract text is available yet for this article.
March 4, 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29297316/a-database-of-human-genes-and-a-gene-network-involved-in-response-to-tick-borne-encephalitis-virus-infection
#8
Elena V Ignatieva, Alexander V Igoshin, Nikolay S Yudin
BACKGROUND: Tick-borne encephalitis is caused by the neurotropic, positive-sense RNA virus, tick-borne encephalitis virus (TBEV). TBEV infection can lead to a variety of clinical manifestations ranging from slight fever to severe neurological illness. Very little is known about genetic factors predisposing to severe forms of disease caused by TBEV. The aims of the study were to compile a catalog of human genes involved in response to TBEV infection and to rank genes from the catalog based on the number of neighbors in the network of pairwise interactions involving these genes and TBEV RNA or proteins...
December 28, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/29273066/co-regulation-of-transcription-by-brg1-and-brm-two-mutually-exclusive-swi-snf-atpase-subunits
#9
Jesse R Raab, John S Runge, Camarie C Spear, Terry Magnuson
BACKGROUND: SWI/SNF is a large heterogeneous multi-subunit chromatin remodeling complex. It consists of multiple sets of mutually exclusive components. Understanding how loss of one sibling of a mutually exclusive pair affects the occupancy and function of the remaining complex is needed to understand how mutations in a particular subunit might affect tumor formation. Recently, we showed that the members of the ARID family of SWI/SNF subunits (ARID1A, ARID1B and ARID2) had complex transcriptional relationships including both antagonism and cooperativity...
December 22, 2017: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/29184203/arid1b-haploinsufficiency-disrupts-cortical-interneuron-development-and-mouse-behavior
#10
Eui-Man Jung, Jeffrey Jay Moffat, Jinxu Liu, Shashank Manohar Dravid, Channabasavaiah Basavaraju Gurumurthy, Woo-Yang Kim
Haploinsufficiency of the AT-rich interactive domain 1B (ARID1B) gene causes autism spectrum disorder and intellectual disability; however, the neurobiological basis for this is unknown. Here we generated Arid1b-knockout mice and examined heterozygotes to model human patients. Arid1b-heterozygous mice showed a decreased number of cortical GABAergic interneurons and reduced proliferation of interneuron progenitors in the ganglionic eminence. Arid1b haploinsufficiency also led to an imbalance between excitatory and inhibitory synapses in the cerebral cortex...
December 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/29151933/expression-of-arid1b-is-associated-with-poor-outcomes-and-predicts-the-benefit-from-adjuvant-chemotherapy-in-bladder-urothelial-carcinoma
#11
Beihe Wang, Huyang Xie, Chunguang Ma, Guiming Zhang, Hualei Gan, Qifeng Wang, Xiaohang Liu, Yiping Zhu, Yao Zhu, Guohai Shi, Hailiang Zhang, Bo Dai, Yijun Shen, Dingwei Ye
Background ARID1B, which exists as a mutually exclusive isoform with ARID1A in the SWI/SNF chromatin remodeling complex, has been recently identified as a major mutant gene in a wide variety of cancers. The present study aimed to determine the association between ARID1B expression and outcomes, as well as the benefit from adjuvant chemotherapy in patients with bladder cancer. Methods Tissue microarrays of 143 consecutively recruited patients with bladder cancer from our center were created. Immunohistochemistry was performed to assess the expression of ARID1B and its association with outcomes...
2017: Journal of Cancer
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
#12
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...
December 2017: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/28967863/chromatin-accessibility-underlies-synthetic-lethality-of-swi-snf-subunits-in-arid1a-mutant-cancers
#13
Timothy W R Kelso, Devin K Porter, Maria Luisa Amaral, Maxim N Shokhirev, Christopher Benner, Diana C Hargreaves
ARID1A, a subunit of the SWI/SNF chromatin remodeling complex, is frequently mutated in cancer. Deficiency in its homolog ARID1B is synthetically lethal with ARID1A mutation. However, the functional relationship between these homologs has not been explored. Here, we use ATAC-seq, genome-wide histone modification mapping, and expression analysis to examine colorectal cancer cells lacking one or both ARID proteins. We find that ARID1A has a dominant role in maintaining chromatin accessibility at enhancers, while the contribution of ARID1B is evident only in the context of ARID1A mutation...
October 2, 2017: ELife
https://www.readbyqxmd.com/read/28932590/primary-pulmonary-malignant-fibrous-histiocytoma-case-report-and-literature-review
#14
Xiongfei Li, Renwang Liu, Tao Shi, Shangwen Dong, Fan Ren, Fan Yang, Dian Ren, Haiyang Fan, Sen Wei, Gang Chen, Jun Chen, Song Xu
Malignant fibrous histiocytoma (MFH) is an aggressive soft tissue sarcoma known to occur in various organs. Primary MFH arising in the lung is quite rare. Herein we report a case of a 61-year-old male with primary pulmonary MFH and explore the underlying molecular mechanisms by next-generation sequencing (NGS). Five gene mutations in TSC2, ARID1B, CDK8, KDM5C and CASP8 were detected, and the mTOR inhibitor might be an effective treatment for this patient. In addition, we reviewed the scientific literature of approximately 23 primary pulmonary MFH case reports since 1990 and summarized the clinical features and prognosis of this rare pulmonary malignant tumor...
August 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28892047/a-system-for-detecting-high-impact-low-frequency-mutations-in-primary-tumors-and-metastases
#15
M Anjanappa, Y Hao, E R Simpson, P Bhat-Nakshatri, J B Nelson, S A Tersey, R G Mirmira, A A Cohen-Gadol, M R Saadatzadeh, L Li, F Fang, K P Nephew, K D Miller, Y Liu, H Nakshatri
Tumor complexity and intratumor heterogeneity contribute to subclonal diversity. Despite advances in next-generation sequencing (NGS) and bioinformatics, detecting rare mutations in primary tumors and metastases contributing to subclonal diversity is a challenge for precision genomics. Here, in order to identify rare mutations, we adapted a recently described epithelial reprograming assay for short-term propagation of epithelial cells from primary and metastatic tumors. Using this approach, we expanded minor clones and obtained epithelial cell-specific DNA/RNA for quantitative NGS analysis...
January 11, 2018: Oncogene
https://www.readbyqxmd.com/read/28888422/exome-sequencing-landscape-analysis-in-ovarian-clear-cell-carcinoma-shed-light-on-key-chromosomal-regions-and-mutation-gene-networks
#16
Ryusuke Murakami, Noriomi Matsumura, J B Brown, Koichiro Higasa, Takanobu Tsutsumi, Mayumi Kamada, Hisham Abou-Taleb, Yuko Hosoe, Sachiko Kitamura, Ken Yamaguchi, Kaoru Abiko, Junzo Hamanishi, Tsukasa Baba, Masafumi Koshiyama, Yasushi Okuno, Ryo Yamada, Fumihiko Matsuda, Ikuo Konishi, Masaki Mandai
Previous studies have reported genome-wide mutation profile analyses in ovarian clear cell carcinomas (OCCCs). This study aims to identify specific novel molecular alterations by combined analyses of somatic mutation and copy number variation. We performed whole exome sequencing of 39 OCCC samples with 16 matching blood tissue samples. Four hundred twenty-six genes had recurrent somatic mutations. Among the 39 samples, ARID1A (62%) and PIK3CA (51%) were frequently mutated, as were genes such as KRAS (10%), PPP2R1A (10%), and PTEN (5%), that have been reported in previous OCCC studies...
October 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28877054/melanotic-translocation-renal-cell-carcinoma-with-a-novel-arid1b-tfe3-gene-fusion
#17
Tatjana Antic, Jerome B Taxy, Mir Alikhan, Jeremy Segal
A 36-year-old male was found to have a 7.0 cm left upper pole renal mass on renal ultrasound. Following nephrectomy, the mass was grossly ill-demarcated, friable and red-brown, invading renal parenchyma, hilar fat and the renal vein. Microscopically, the tumor had a nested and papillary architecture. The cells demonstrated abundant clear and eosinophilic cytoplasm and focal intracytoplasmic melanin pigment. Nucleoli were prominent. By immunohistochemistry, the tumor was positive for TFE3; HMB-45 stained approximately 5% of tumor cells corresponding to the histologic melanin pigment, which was confirmed with Fontana-Masson stain with bleach...
November 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28867767/arid1b-haploinsufficiency-causes-abnormal-brain-gene-expression-and-autism-related-behaviors-in-mice
#18
Mihiro Shibutani, Takuro Horii, Hirotaka Shoji, Sumiyo Morita, Mika Kimura, Naomi Terawaki, Tsuyoshi Miyakawa, Izuho Hatada
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with core symptoms that include poor social communication, restricted interests, and repetitive behaviors. Several ASD mouse models exhibit impaired social interaction, anxiety-like behavior, and elevated perseveration. Large-scale whole exome sequencing studies identified many genes putatively associated with ASD. Like chromodomain helicase DNA binding protein 8 (CHD8), the most frequently mutated gene in individuals with ASD, the candidate gene AT-rich interaction domain 1B (ARID1B) encodes a chromatin remodeling factor...
August 30, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28863077/undifferentiated-endometrial-carcinomas-show-frequent-loss-of-core-switch-sucrose-nonfermentable-complex-proteins
#19
Martin Köbel, Lien N Hoang, Basile Tessier-Cloutier, Bo Meng, Robert A Soslow, Colin J R Stewart, Cheng-Han Lee
Undifferentiated endometrial carcinoma is an aggressive type of endometrial carcinoma that typically presents with advanced stage disease and rapid clinical progression. In contrast to dedifferentiated endometrial carcinoma, undifferentiated carcinoma lacks a concurrent differentiated (typically low-grade endometrioid) carcinoma component, though the undifferentiated component of dedifferentiated carcinoma is similar histologically and immunophenotypically to pure undifferentiated carcinoma. We recently identified 3 mutually exclusive mechanisms of switch/sucrose nonfermentable (SWI/SNF) complex inactivation (BRG1 inactivation, INI1 inactivation or ARID1A/ARID1B co-inactivation) that are associated with histologic dedifferentiation in the majority of dedifferentiated endometrial carcinoma...
January 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28759038/high-depth-high-accuracy-microsatellite-genotyping-enables-precision-lung-cancer-risk-classification
#20
K R Velmurugan, R T Varghese, N C Fonville, H R Garner
There remains a large discrepancy between the known genetic contributions to cancer and that which can be explained by genomic variants, both inherited and somatic. Recently, understudied repetitive DNA regions called microsatellites have been identified as genetic risk markers for a number of diseases including various cancers (breast, ovarian and brain). In this study, we demonstrate an integrated process for identifying and further evaluating microsatellite-based risk markers for lung cancer using data from the cancer genome atlas and the 1000 genomes project...
November 16, 2017: Oncogene
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