keyword
MENU ▼
Read by QxMD icon Read
search

Arid1b

keyword
https://www.readbyqxmd.com/read/29890703/arid1b-as-a-potential-therapeutic-target-for-arid1a-mutant-ovarian-clear-cell-carcinoma
#1
Emi Sato, Kentaro Nakayama, Sultana Razia, Kohei Nakamura, Masako Ishikawa, Toshiko Minamoto, Tomoka Ishibashi, Hitomi Yamashita, Kouji Iida, Satoru Kyo
AT-rich interactive domain 1A (ARID1A) and AT-rich interactive domain 1B (ARID1B) are subunits of the SWI/SNF chromatin complex. ARID1A is a tumor suppressor gene that is frequently mutated (46%) in ovarian clear cell carcinomas (OCCC). Loss of ARID1B in an ARID1A-deficient background eliminates the intact SWI/SNF complex, indicating that ARID1B is essential for the formation or stabilization of an intact SWI/SNF complex and, thus, the survival of ARID1A-mutant cancer cell lines. In this study, we investigated the clinicopathologic and prognostic relevance of ARID1B in OCCC by immunohistochemical analysis of 53 OCCC patient samples and loss-of-function experiments in OCCC cell lines...
June 8, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29864107/hhid-syndrome-with-plantar-fat-pads-caused-by-a-de-novo-arid1b-mutation
#2
Mohamed Wafik, Usha Kini
No abstract text is available yet for this article.
July 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29859070/novel-caries-loci-in-children-and-adults-implicated-by-genome-wide-analysis-of-families
#3
Manika Govil, Nandita Mukhopadhyay, Daniel E Weeks, Eleanor Feingold, John R Shaffer, Steven M Levy, Alexandre R Vieira, Rebecca L Slayton, Daniel W McNeil, Robert J Weyant, Richard J Crout, Mary L Marazita
BACKGROUND: Dental caries is a common chronic disease among children and adults alike, posing a substantial health burden. Caries is affected by multiple genetic and environmental factors, and prior studies have found that a substantial proportion of caries susceptibility is genetically inherited. METHODS: To identify such genetic factors, we conducted a genome-wide linkage scan in 464 extended families with 2616 individuals from Iowa, Pennsylvania and West Virginia for three dental caries phenotypes: (1) PRIM: dichotomized as zero versus one or more affected primary teeth, (2) QTOT1: age-adjusted quantitative caries measure for both primary and permanent dentitions including pre-cavitated lesions, and (3) QTOT2: age-adjusted quantitative caries excluding pre-cavitated lesions...
June 1, 2018: BMC Oral Health
https://www.readbyqxmd.com/read/29805044/risks-and-recommendations-in-prenatally-detected-de-novo-balanced-chromosomal-rearrangements-from-assessment-of-long-term-outcomes
#4
Christina Halgren, Nete M Nielsen, Lusine Nazaryan-Petersen, Asli Silahtaroglu, Ryan L Collins, Chelsea Lowther, Susanne Kjaergaard, Morten Frisch, Maria Kirchhoff, Karen Brøndum-Nielsen, Allan Lind-Thomsen, Yuan Mang, Zahra El-Schich, Claire A Boring, Mana M Mehrjouy, Peter K A Jensen, Christina Fagerberg, Lotte N Krogh, Jan Hansen, Thue Bryndorf, Claus Hansen, Michael E Talkowski, Mads Bak, Niels Tommerup, Iben Bache
The 6%-9% risk of an untoward outcome previously established by Warburton for prenatally detected de novo balanced chromosomal rearrangements (BCRs) does not account for long-term morbidity. We performed long-term follow-up (mean 17 years) of a registry-based nationwide cohort of 41 individuals carrying a prenatally detected de novo BCR with normal first trimester screening/ultrasound scan. We observed a significantly higher frequency of neurodevelopmental and/or neuropsychiatric disorders than in a matched control group (19...
May 17, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29760405/arid1a-mutation-sensitizes-most-ovarian-clear-cell-carcinomas-to-bet-inhibitors
#5
Katrien Berns, Joseph J Caumanns, E Marielle Hijmans, Annemiek M C Gennissen, Tesa M Severson, Bastiaan Evers, G Bea A Wisman, Gert Jan Meersma, Cor Lieftink, Roderick L Beijersbergen, Hiroaki Itamochi, Ate G J van der Zee, Steven de Jong, René Bernards
Current treatment for advanced stage ovarian clear cell cancer is severely hampered by a lack of effective systemic therapy options, leading to a poor outlook for these patients. Sequencing studies revealed that ARID1A is mutated in over 50% of ovarian clear cell carcinomas. To search for a rational approach to target ovarian clear cell cancers with ARID1A mutations, we performed kinome-centered lethality screens in a large panel of ovarian clear cell carcinoma cell lines. Using the largest OCCC cell line panel established to date, we show here that BRD2 inhibition is predominantly lethal in ARID1A mutated ovarian clear cell cancer cells...
May 15, 2018: Oncogene
https://www.readbyqxmd.com/read/29681787/the-response-to-neoadjuvant-chemoradiotherapy-with-5-fluorouracil-in-locally-advanced-rectal-cancer-patients-a-predictive-proteomic-signature
#6
Anaïs Chauvin, Chang-Shu Wang, Sameh Geha, Perrine Garde-Granger, Alex-Ane Mathieu, Vincent Lacasse, François-Michel Boisvert
Background: Colorectal cancer is the third most common and the fourth most lethal cancer in the world. In the majority of cases, patients are diagnosed at an advanced stage or even metastatic, thus explaining the high mortality. The standard treatment for patients with locally advanced non-metastatic rectal cancer is neoadjuvant radio-chemotherapy (NRCT) with 5-fluorouracil (5-FU) followed by surgery, but the resistance rate to this treatment remains high with approximately 30% of non-responders...
2018: Clinical Proteomics
https://www.readbyqxmd.com/read/29610389/-fgfr1-tyrosine-kinase-domain-duplication-in-pilocytic-astrocytoma-with-anaplasia
#7
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
#8
Sayantani Sinha, Shankha Subhra Chatterjee, Mayukh Biswas, Arijit Nag, Debasis Banerjee, Rajib De, Amitava Sengupta
Acquired aplastic anemia (AA) is a bone marrow (BM) failure associated with autoimmune destruction of hematopoietic stem cells (HSCs). Although somatic mutations have been identified in AA patients, mutations alone do not explain AA pathophysiology. SWI/SNF is an evolutionarily conserved, multi-subunit, ATP-dependent chromatin-remodeling protein complex that plays an important role in mammalian hematopoiesis. Herein, gene expression analysis identified a significant loss of the SWI/SNF core component SMARCC1, along with ARID1B, ACTL6A, and SMARCD1, in human AA BM CD34+ HSCs and hematopoietic stem and progenitor cells (HSPCs) compared with normal HSPCs...
June 2018: Experimental Hematology
https://www.readbyqxmd.com/read/29576263/sequencing-a-super-multiple-synchronous-lung-cancer-reveals-a-novel-variant-in-driver-gene-arid1b
#9
Kai Su, Shugeng Gao, Jianming Ying, Shuangmei Zou, Jie He
No abstract text is available yet for this article.
June 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
#10
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
#11
EDITORIAL
Jules Lin
No abstract text is available yet for this article.
June 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
#12
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...
June 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29504208/hepatomegaly-in-a-boy-with-arid1b-related-coffin-siris-syndrome
#13
Takenori Natsume, Kyoko Takano, Mitsuo Motobayashi, Tomoki Kosho
No abstract text is available yet for this article.
April 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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
78333
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"