An X Chromosome Gene, WTX, Is Commonly Inactivated in Wilms Tumor

[ { "id": "3740474", "title": "Novel findings from family-based exome sequencing for children with biliary atresia", "abstract": "Biliary atresia (BA) is a progressive inflammation and fibrosis of the biliary tree characterized by the obstruction of bile flow, which results in liver failure, scarring and cirrhosis. This study aimed to explore the elusive aetiology of BA by conducting whole exome sequencing for 41 children with BA and their parents (35 trios, including 1 family with 2 BA-diagnosed children and 5 child-mother cases). We exclusively identified and validated a total of 28 variants (17 X-linked, 6 de novo and 5 homozygous) in 25 candidate genes from our BA cohort. These variants were among the 10% most deleterious and had a low minor allele frequency against the employed databases: Kinh Vietnamese (KHV), GnomAD and 1000 Genome Project. Interestingly, AMER1, INVS and OCRL variants were found in unrelated probands and were first reported in a BA cohort. Liver specimens and blood samples showed identical variants, suggesting that somatic variants were unlikely to occur during morphogenesis. Consistent with earlier attempts, this study implicated genetic heterogeneity and non-Mendelian inheritance of BA.", "source_url": "https://www.nature.com/articles/s41598-021-01148-y", "doc_type": 4, "year": 2021, "issue": 1, "volume": 11, "first_page": 1, "last_page": 13, "citation_count": 0, "reference_count": 10, "venue": { "id": 2110000208, "name": "SCIENTIFIC REPORTS", "abbr": "" }, "author": [ { "id": 1002069468, "name": "Kien Trung Tran" }, { "id": 1002069469, "name": "Vinh Sy Le" }, { "id": 1002069474, "name": "Lan Thi Mai Dao" }, { "id": 1003956794, "name": "Huyen Khanh Nguyen" }, { "id": 1003956795, "name": "Anh Kieu Mai" }, { "id": 1001327420, "name": "Ha Thi Nguyen" }, { "id": 1003956796, "name": "Minh Duy Ngo" }, { "id": 1003956797, "name": "Quynh Anh Tran" }, { "id": 1002069479, "name": "Liem Thanh Nguyen" } ], "field": [ { "id": 2030554365, "name": "Shamal" } ], "cite": [ { "name": "GB/T 7714", "text": "Tran Kien Trung, Le Vinh Sy, Dao Lan Thi Mai, et al. Novel findings from family-based exome sequencing for children with biliary atresia[J]. SCIENTIFIC REPORTS, 2021, 11(1): 1-13." }, { "name": "MLA", "text": "Tran, Kien Trung, et al. \"Novel findings from family-based exome sequencing for children with biliary atresia\" SCIENTIFIC REPORTS., vol. 11, no. 1, 2021, pp. 1-13." }, { "name": "APA", "text": "Tran Kien Trung, Le Vinh Sy, Dao Lan Thi Mai, Nguyen Huyen Khanh, Mai Anh Kieu, Nguyen Ha Thi, ... & Nguyen Liem Thanh (2021). Novel findings from family-based exome sequencing for children with biliary atresia. SCIENTIFIC REPORTS, 11(1), 1-13." }, { "name": "BibTeX", "text": "@inproceedings{Acemap3740474,\n title=\"Novel findings from family-based exome sequencing for children with biliary atresia\",\n author=\"Kien Trung {Tran} and Vinh Sy {Le} and Lan Thi Mai {Dao} and Huyen Khanh {Nguyen} and Anh Kieu {Mai} and Ha Thi {Nguyen} and Minh Duy {Ngo} and Quynh Anh {Tran} and Liem Thanh {Nguyen}\",\n journal=\"SCIENTIFIC REPORTS\",\n volume=\"11\",\n number=\"1\",\n pages=\"1--13\",\n url=\"https://www.acemap.info/paper/3740474\",\n year=\"2021\"\n}" } ] }, { "id": "2243437", "title": "MiR-4524b-5p/WTX/β-catenin axis functions as a regulator of metastasis in cervical cancer", "abstract": "Cervical cancer is the second most deadly gynecological tumor worldwide. MicroRNAs (miRNAs) play very important roles in tumor oncogenesis and progression. The mechanism of post-transcription regulation of WTX gene is still unknown. A series of differential miRNAs were discovered by microarray analysis comparing three pairs of primary cervical cancer specimens and their relapsed tumors from three patients. Quantitative reverse transcriptase PCR (qRT-PCR), Western Blot (WB) and Immunohistochemistry (IHC) was used to detect the expression of miR-4524b-5p and WTX in cervical cell lines and tissues. The biological function of miR-4524b-5p and WTX was investigated through knockdown and overexpression with inhibitor/siRNA and mimic/plasmid in vitro and in vivo. In this study, we found that miR-4524b-5p is highly expressed in relapsed cervical cancer specimens. Combined in vitro and in vivo experiments, showed that miR-4524b-5p could regulate the migration and invasion ability of cervical cancer. Furthermore, we also found that miR-4524b-5p could regulate the migration and invasion of cervical cancer by targeting WTX and that WTX could regulate the expression of β-catenin. Taken together, our data identified a miR-4524b-5p/WTX/β-catenin regulatory axis for cervical cancer, and miR-4524b-5p may be a potential target for cervical cancer therapy.", "source_url": "https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0214822", "doc_type": 4, "year": 2019, "issue": 4, "volume": 14, "first_page": 0, "last_page": 0, "citation_count": 1, "reference_count": 6, "venue": { "id": 2110000215, "name": "PLOS ONE", "abbr": "" }, "author": [ { "id": 1000103392, "name": "Tong Li" }, { "id": 1001499000, "name": "Wenjuan Zhou" }, { "id": 1001085112, "name": "Yimin Li" }, { "id": 1002334148, "name": "Yaqi Gan" }, { "id": 1000860633, "name": "Peng, Yulong" }, { "id": 1000344266, "name": "Qing Xiao" }, { "id": 1002334149, "name": "Chunli Ouyang" }, { "id": 1000980630, "name": "Anqi Wu" }, { "id": 1000648500, "name": "Sai Zhang" }, { "id": 1000161165, "name": "Jiaqi Liu" }, { "id": 1000443697, "name": "Lili Fan" }, { "id": 1002334150, "name": "Duo Han" }, { "id": 1000225926, "name": "Yu Wei" }, { "id": 1000980631, "name": "Guang Shu" }, { "id": 1000666636, "name": "Gang Yin" } ], "field": [ { "id": 2018252668, "name": "Penile cancer" }, { "id": 2012558787, "name": "Suboccipital nerve" }, { "id": 2017571735, "name": "Migrastatin" }, { "id": 2004556151, "name": "Appendix cancer" }, { "id": 2014922585, "name": "Cervical vertebral fusion" }, { "id": 2010169572, "name": "Mapatumumab" }, { "id": 2037463597, "name": "Epistropheus" }, { "id": 2011716103, "name": "Halichondrin B" }, { "id": 2044972032, "name": "Supraclavicular nerve" }, { "id": 2001112396, "name": "Platybasia" } ], "cite": [ { "name": "GB/T 7714", "text": "Li Tong, Zhou Wenjuan, Li Yimin, et al. MiR-4524b-5p/WTX/β-catenin axis functions as a regulator of metastasis in cervical cancer[J]. PLOS ONE, 2019, 14(4)." }, { "name": "MLA", "text": "Li, Tong, et al. \"MiR-4524b-5p/WTX/β-catenin axis functions as a regulator of metastasis in cervical cancer\" PLOS ONE., vol. 14, no. 4, 2019." }, { "name": "APA", "text": "Li Tong, Zhou Wenjuan, Li Yimin, Gan Yaqi, Yulong Peng,, Xiao Qing, ... & Liu Jiaqi (2019). MiR-4524b-5p/WTX/β-catenin axis functions as a regulator of metastasis in cervical cancer. PLOS ONE, 14(4)." }, { "name": "BibTeX", "text": "@inproceedings{Acemap2243437,\n title=\"MiR-4524b-5p/WTX/β-catenin axis functions as a regulator of metastasis in cervical cancer\",\n author=\"Tong {Li} and Wenjuan {Zhou} and Yimin {Li} and Yaqi {Gan} and {Peng, Yulong} and Qing {Xiao} and Chunli {Ouyang} and Anqi {Wu} and Sai {Zhang} and Jiaqi {Liu} and Lili {Fan} and Duo {Han} and Yu {Wei} and Guang {Shu} and Gang {Yin}\",\n journal=\"PLOS ONE\",\n volume=\"14\",\n number=\"4\",\n url=\"https://www.acemap.info/paper/2243437\",\n year=\"2019\"\n}" } ] }, { "id": "2252734", "title": "Correction: MiR-4524b-5p/WTX/β-catenin axis functions as a regulator of metastasis in cervical cancer", "abstract": "", "source_url": "https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0226864", "doc_type": 4, "year": 2019, "issue": 12, "volume": 14, "first_page": 0, "last_page": 0, "citation_count": 1, "reference_count": 5, "venue": { "id": 2110000215, "name": "PLOS ONE", "abbr": "" }, "author": [ { "id": 1000103392, "name": "Tong Li" }, { "id": 1001499000, "name": "Wenjuan Zhou" }, { "id": 1001085112, "name": "Yimin Li" }, { "id": 1002334148, "name": "Yaqi Gan" }, { "id": 1000860633, "name": "Peng, Yulong" }, { "id": 1000344266, "name": "Qing Xiao" }, { "id": 1002334149, "name": "Chunli Ouyang" }, { "id": 1000980630, "name": "Anqi Wu" }, { "id": 1000648500, "name": "Sai Zhang" }, { "id": 1000161165, "name": "Jiaqi Liu" }, { "id": 1000443697, "name": "Lili Fan" }, { "id": 1002334150, "name": "Duo Han" }, { "id": 1000225926, "name": "Yu Wei" }, { "id": 1000980631, "name": "Guang Shu" }, { "id": 1000666636, "name": "Gang Yin" } ], "field": [ { "id": 2018252668, "name": "Penile cancer" }, { "id": 2037463597, "name": "Epistropheus" }, { "id": 2017571735, "name": "Migrastatin" }, { "id": 2012558787, "name": "Suboccipital nerve" }, { "id": 2014922585, "name": "Cervical vertebral fusion" } ], "cite": [ { "name": "GB/T 7714", "text": "Li Tong, Zhou Wenjuan, Li Yimin, et al. Correction: MiR-4524b-5p/WTX/β-catenin axis functions as a regulator of metastasis in cervical cancer[J]. PLOS ONE, 2019, 14(12)." }, { "name": "MLA", "text": "Li, Tong, et al. \"Correction: MiR-4524b-5p/WTX/β-catenin axis functions as a regulator of metastasis in cervical cancer\" PLOS ONE., vol. 14, no. 12, 2019." }, { "name": "APA", "text": "Li Tong, Zhou Wenjuan, Li Yimin, Gan Yaqi, Yulong Peng,, Xiao Qing, ... & Liu Jiaqi (2019). Correction: MiR-4524b-5p/WTX/β-catenin axis functions as a regulator of metastasis in cervical cancer. PLOS ONE, 14(12)." }, { "name": "BibTeX", "text": "@inproceedings{Acemap2252734,\n title=\"Correction: MiR-4524b-5p/WTX/β-catenin axis functions as a regulator of metastasis in cervical cancer\",\n author=\"Tong {Li} and Wenjuan {Zhou} and Yimin {Li} and Yaqi {Gan} and {Peng, Yulong} and Qing {Xiao} and Chunli {Ouyang} and Anqi {Wu} and Sai {Zhang} and Jiaqi {Liu} and Lili {Fan} and Duo {Han} and Yu {Wei} and Guang {Shu} and Gang {Yin}\",\n journal=\"PLOS ONE\",\n volume=\"14\",\n number=\"12\",\n url=\"https://www.acemap.info/paper/2252734\",\n year=\"2019\"\n}" } ] }, { "id": "2439667", "title": "Profile of Daniel A. Haber", "abstract": "", "source_url": "https://www.pnas.org/content/116/13/5840", "doc_type": 4, "year": 2019, "issue": 13, "volume": 116, "first_page": 5840, "last_page": 5842, "citation_count": 1, "reference_count": 4, "venue": { "id": 2110000201, "name": "PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA", "abbr": "" }, "author": [ { "id": 1002488724, "name": "Beth Azar" } ], "field": [ { "id": 2026218130, "name": "Available water capacity" } ], "cite": [ { "name": "GB/T 7714", "text": "Azar Beth, Profile of Daniel A. Haber[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2019, 116(13): 5840-5842." }, { "name": "MLA", "text": "Azar, Beth. \"Profile of Daniel A. Haber\" PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA., vol. 116, no. 13, 2019, pp. 5840-5842." }, { "name": "APA", "text": " & Azar Beth (2019). Profile of Daniel A. Haber. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 116(13), 5840-5842." }, { "name": "BibTeX", "text": "@inproceedings{Acemap2439667,\n title=\"Profile of Daniel A. Haber\",\n author=\"Beth {Azar}\",\n journal=\"PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA\",\n volume=\"116\",\n number=\"13\",\n pages=\"5840--5842\",\n url=\"https://www.acemap.info/paper/2439667\",\n year=\"2019\"\n}" } ] }, { "id": "1674787", "title": "Mir20a/106a-WTX axis regulates RhoGDIa/CDC42 signaling and colon cancer progression", "abstract": "Wilms tumor gene on the X chromosome (WTX) is a putative tumor suppressor gene in Wilms tumor, but its expression and functions in other tumors are unclear. Colorectal cancer (CRC) is the third leading cause of cancer-related deaths in women and the second leading cause in men in the United States. We demonstrated that WTX frequently lost in CRC which was highly correlated with cell proliferation, tumor invasion and metastasis. Mechanistically, WTX loss disrupts the interaction between RhoGDIα and CDC42 by losing of the binding with RhoGDIα and triggers the activation of CDC42 and its downstream cascades, which promotes CRC development and liver metastasis. The aberrant upregulation of miR-20a/miR-106a were identified as the reason of WTX loss in CRC both in vivo and in vitro. These study defined the mechanism how miR-20a/miR-106a-mediated WTX loss regulates CRC progression and metastasis, and provided a potential therapeutic target for preventing CRC progression. Wilms tumor gene on the X chromosome (WTX) is commonly downregulated in human cancers. Here the authors show that in colorectal cancer (CRC) WTX expression is downregulated via miR20a and miR160a and its loss promotes tumor development and liver metastasis by disrupting the interaction between RhoGDIα and CDC42 leading to the activation of the CDC42 downstream cascades.", "source_url": "https://www.nature.com/articles/s41467-018-07998-x", "doc_type": 4, "year": 2019, "issue": 1, "volume": 10, "first_page": 1, "last_page": 14, "citation_count": 0, "reference_count": 5, "venue": { "id": 2110000199, "name": "NATURE COMMUNICATIONS", "abbr": "" }, "author": [ { "id": 1001449271, "name": "Gui-fang Zhu" }, { "id": 1001449272, "name": "Yang-wei Xu" }, { "id": 1000020547, "name": "Jian Li" }, { "id": 1001449273, "name": "Hui-lin Niu" }, { "id": 1001449274, "name": "Wen-xia Ma" }, { "id": 1000418896, "name": "Jia Xu" }, { "id": 1001449275, "name": "Pei-rong Zhou" }, { "id": 1000442811, "name": "Xia Liu" }, { "id": 1001449276, "name": "Dan-li Ye" }, { "id": 1001449277, "name": "Xiao-rong Liu" }, { "id": 1000282117, "name": "Tao Yan" }, { "id": 1001449278, "name": "Wei-ke Zhai" }, { "id": 1001449279, "name": "Zhi-jun Xu" }, { "id": 1000256989, "name": "Chun Liu" }, { "id": 1000075756, "name": "Lei Wang" }, { "id": 1000048860, "name": "Hao Wang" }, { "id": 1001449280, "name": "Jia-mao Luo" }, { "id": 1000115795, "name": "Li Liu" }, { "id": 1001449281, "name": "Xuan-qi Li" }, { "id": 1001449282, "name": "Suiqun Guo" }, { "id": 1001449283, "name": "Hui-ping Jiang" }, { "id": 1000083227, "name": "Peng Shen" }, { "id": 1001387552, "name": "Hui-Kuan Lin" }, { "id": 1001449284, "name": "Di-hua Yu" }, { "id": 1001449285, "name": "Yan-qing Ding" }, { "id": 1000360298, "name": "Qing-Ling Zhang" } ], "field": [ { "id": 2023692886, "name": "Glomangiosarcoma" }, { "id": 2015533717, "name": "Glomus tumour" }, { "id": 2008621301, "name": "Glomangioma" }, { "id": 2018252668, "name": "Penile cancer" }, { "id": 2011263863, "name": "Adamantinoma" }, { "id": 2004556151, "name": "Appendix cancer" }, { "id": 2010169572, "name": "Mapatumumab" }, { "id": 2041068275, "name": "Mucinous cystadenoma" } ], "cite": [ { "name": "GB/T 7714", "text": "Zhu Gui-fang, Xu Yang-wei, Li Jian, et al. Mir20a/106a-WTX axis regulates RhoGDIa/CDC42 signaling and colon cancer progression[J]. NATURE COMMUNICATIONS, 2019, 10(1): 1-14." }, { "name": "MLA", "text": "Zhu, Gui-fang, et al. \"Mir20a/106a-WTX axis regulates RhoGDIa/CDC42 signaling and colon cancer progression\" NATURE COMMUNICATIONS., vol. 10, no. 1, 2019, pp. 1-14." }, { "name": "APA", "text": "Zhu Gui-fang, Xu Yang-wei, Li Jian, Niu Hui-lin, Ma Wen-xia, Xu Jia, ... & Liu Xiao-rong (2019). Mir20a/106a-WTX axis regulates RhoGDIa/CDC42 signaling and colon cancer progression. NATURE COMMUNICATIONS, 10(1), 1-14." }, { "name": "BibTeX", "text": "@inproceedings{Acemap1674787,\n title=\"Mir20a/106a-WTX axis regulates RhoGDIa/CDC42 signaling and colon cancer progression\",\n author=\"{Gui-fang Zhu} and {Yang-wei Xu} and Jian {Li} and {Hui-lin Niu} and {Wen-xia Ma} and Jia {Xu} and {Pei-rong Zhou} and Xia {Liu} and {Dan-li Ye} and {Xiao-rong Liu} and Tao {Yan} and {Wei-ke Zhai} and {Zhi-jun Xu} and Chun {Liu} and Lei {Wang} and Hao {Wang} and {Jia-mao Luo} and Li {Liu} and {Xuan-qi Li} and Suiqun {Guo} and {Hui-ping Jiang} and Peng {Shen} and {Hui-Kuan Lin} and {Di-hua Yu} and {Yan-qing Ding} and {Qing-Ling Zhang}\",\n journal=\"NATURE COMMUNICATIONS\",\n volume=\"10\",\n number=\"1\",\n pages=\"1--14\",\n url=\"https://www.acemap.info/paper/1674787\",\n year=\"2019\"\n}" } ] }, { "id": "2167372", "title": "Immunohistochemical analysis of cyclin A expression in Wilms tumor", "abstract": "Background Cyclin A overexpression is found in a variety of human tumors and correlates with unfavorable outcome. We analyzed immunohistochemical expression of cyclin A in Wilms tumor (WT) in relation to clinicopathological characteristics, preoperative chemotherapy (PrOpChTh), and overall survival (OS). Methods This retrospective study involved 43 patients who underwent nephrectomy from January 1996 to October 2010. Tumor stage and histological subtype were determined by revised Societé International d’Oncologie Pediatrique protocol, based on histological components/alterations caused by PrOpChTh, within the prognostic group of low, intermediate and high risk, and with criteria for anaplasia. The regressive/necrotic changes in total tumor mass of primary tumor and the proportion of epithelial, blastemal, and stromal components in the remaining viable tumor tissue were also determined. Cyclin A expression was evaluated by immunohistochemistry using a polyclonal rabbit, antihuman antibody (H-432). Results Cyclin A overexpression was found in 34.3% of WTs, with higher frequency in tumors with epithelial (31.3%) and blastemal (37.1%) components than those with stromal component (17.7%). Regarding histological type, cyclin A overexpression was found most often in focal anaplasia (100%), stromal (60%), and diffuse anaplastic (66.7) WTs. The overexpression was also more frequent in stages 3 and 4 (77.8% and 66.7%, respectively) compared to tumors in stages 1 and 2 (13.3% and 12.5%, respectively; p = 0.004) in all components, as well as in blastemal component in stages 3 and 4 (77.8% and 66.7%, respectively) vs. stages 1 and 2 (13.3% and 25%, respectively, p = 0.009). Cyclin A overexpression in all components was 66.7% in WTs with metastasis and 31.3% in WTs without metastasis (p = 0.265, Fisher test). Log-rank testing revealed differences of OS regarding stage (p = 0.000), prognostic groups (p = 0.001), and cyclin A expression in blastemal component (p = 0.025). After univariate analysis, tumor stage (p = 0.001), prognostic group (p = 0.004), and cyclin A expression in blastemal component (p = 0.042) were significant prognostic factors for OS; however, after multivariate analysis, none of these factors were confirmed as independent predictors of survival. Discussion This study showed that cyclin A overexpression might be associated with the development and progression of WT with anaplasia. Also, cyclin A overexpression was more often observed in advanced stages (3 and 4) of WT, in the group of high-risk WTs, and in focal and diffuse anaplasia WTs. There was no relation of cyclin A overexpression and metastatic ability of WT. Although this study has not confirmed the prognostic value of cyclin A overexpression, its association with unfavorable prognosis should be further evaluated.", "source_url": "https://peerj.com/articles/6212/", "doc_type": 4, "year": 2019, "issue": 0, "volume": 6, "first_page": 0, "last_page": 0, "citation_count": 0, "reference_count": 4, "venue": { "id": 2110000219, "name": "PEERJ", "abbr": "" }, "author": [], "field": [ { "id": 2023692886, "name": "Glomangiosarcoma" }, { "id": 2015533717, "name": "Glomus tumour" }, { "id": 2008621301, "name": "Glomangioma" }, { "id": 2011263863, "name": "Adamantinoma" }, { "id": 2041068275, "name": "Mucinous cystadenoma" }, { "id": 2004556151, "name": "Appendix cancer" }, { "id": 2010169572, "name": "Mapatumumab" } ], "cite": [ { "name": "GB/T 7714", "text": "" }, { "name": "MLA", "text": "" }, { "name": "APA", "text": "" }, { "name": "BibTeX", "text": "@inproceedings{Acemap2167372,\n title=\"Immunohistochemical analysis of cyclin A expression in Wilms tumor\",\n author=\"\",\n journal=\"PEERJ\",\n volume=\"6\",\n url=\"https://www.acemap.info/paper/2167372\",\n year=\"2019\"\n}" } ] }, { "id": "1905039", "title": "Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors", "abstract": "Granular cell tumors (GCTs) are rare tumors that can arise in multiple anatomical locations, and are characterized by abundant intracytoplasmic granules. The genetic drivers of GCTs are currently unknown. Here, we apply whole-exome sequencing and targeted sequencing analysis to reveal mutually exclusive, clonal, inactivating somatic mutations in the endosomal pH regulators ATP6AP1 or ATP6AP2 in 72% of GCTs. Silencing of these genes in vitro results in impaired vesicle acidification, redistribution of endosomal compartments, and accumulation of intracytoplasmic granules, recapitulating the cardinal phenotypic characteristics of GCTs and providing a novel genotypic–phenotypic correlation. In addition, depletion of ATP6AP1 or ATP6AP2 results in the acquisition of oncogenic properties. Our results demonstrate that inactivating mutations of ATP6AP1 and ATP6AP2 are likely oncogenic drivers of GCTs and underpin the genesis of the intracytoplasmic granules that characterize them, providing a genetic link between endosomal pH regulation and tumorigenesis. Granular cell tumors (GCTs) are rare tumors that arise in multiple anatomical locations. Here, the authors investigate the genomics of GCTs, finding inactivating somatic mutations in ATP6AP1 or ATP6AP2 in 72% of the 82 GCTs analyzed. In vitro manipulation of these genes recapitulated GCT phenotypes in cellular models.", "source_url": "https://www.nature.com/articles/s41467-018-05886-y", "doc_type": 4, "year": 2018, "issue": 1, "volume": 9, "first_page": 1, "last_page": 13, "citation_count": 2, "reference_count": 6, "venue": { "id": 2110000199, "name": "NATURE COMMUNICATIONS", "abbr": "" }, "author": [ { "id": 1001588718, "name": "Fresia Pareja" }, { "id": 1001810216, "name": "Alissa H. Brandes" }, { "id": 1001588716, "name": "Thais Basili" }, { "id": 1001588728, "name": "Pier Selenica" }, { "id": 1001810217, "name": "Felipe C. Geyer" }, { "id": 1000845269, "name": "Dan Fan" }, { "id": 1001588715, "name": "Arnaud Da Cruz Paula" }, { "id": 1000235367, "name": "Rahul Kumar" }, { "id": 1001565276, "name": "David N. Brown" }, { "id": 1001588720, "name": "Rodrigo Gularte-Mérida" }, { "id": 1001810218, "name": "Barbara Alemar" }, { "id": 1001588717, "name": "Rui Bi" }, { "id": 1001281949, "name": "Raymond S. Lim" }, { "id": 1001810219, "name": "Ino de Bruijn" }, { "id": 1001588721, "name": "Sho Fujisawa" }, { "id": 1001484304, "name": "Rui Gardner" }, { "id": 1001810220, "name": "Elvin Feng" }, { "id": 1000387334, "name": "Anqi Li" }, { "id": 1001588719, "name": "Edaise M. da Silva" }, { "id": 1001810221, "name": "John R. Lozada" }, { "id": 1001281948, "name": "Pedro Blecua" }, { "id": 1001810222, "name": "Leona Cohen-Gould" }, { "id": 1001499956, "name": "Achim A. Jungbluth" }, { "id": 1001769313, "name": "Emad A. Rakha" }, { "id": 1001233803, "name": "Ian O. Ellis" }, { "id": 1001810223, "name": "Maria I. A. Edelweiss" }, { "id": 1001810224, "name": "Juan Palazzo" }, { "id": 1001279395, "name": "LARRY NORTON" }, { "id": 1001810225, "name": "Travis Hollmann" }, { "id": 1001810226, "name": "Marcia Edelweiss" }, { "id": 1001810227, "name": "Brian P. Rubin" }, { "id": 1001226509, "name": "Britta Weigelt" }, { "id": 1001281951, "name": "Jorge S. Reis-Filho" } ], "field": [ { "id": 2015533717, "name": "Glomus tumour" }, { "id": 2008621301, "name": "Glomangioma" }, { "id": 2004556151, "name": "Appendix cancer" }, { "id": 2009549671, "name": "Pseudomyxoma peritonei" } ], "cite": [ { "name": "GB/T 7714", "text": "Pareja Fresia, Brandes Alissa H., Basili Thais, et al. Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors[J]. NATURE COMMUNICATIONS, 2018, 9(1): 1-13." }, { "name": "MLA", "text": "Pareja, Fresia, et al. \"Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors\" NATURE COMMUNICATIONS., vol. 9, no. 1, 2018, pp. 1-13." }, { "name": "APA", "text": "Pareja Fresia, Brandes Alissa H., Basili Thais, Selenica Pier, Geyer Felipe C., Fan Dan, ... & Gularte-Mérida Rodrigo (2018). Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors. NATURE COMMUNICATIONS, 9(1), 1-13." }, { "name": "BibTeX", "text": "@inproceedings{Acemap1905039,\n title=\"Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors\",\n author=\"Fresia {Pareja} and {Alissa H. Brandes} and Thais {Basili} and Pier {Selenica} and {Felipe C. Geyer} and Dan {Fan} and Arnaud Da Cruz {Paula} and Rahul {Kumar} and {David N. Brown} and {Rodrigo Gularte-Mérida} and Barbara {Alemar} and Rui {Bi} and {Raymond S. Lim} and Ino de {Bruijn} and Sho {Fujisawa} and Rui {Gardner} and Elvin {Feng} and Anqi {Li} and {Edaise M. da Silva} and {John R. Lozada} and Pedro {Blecua} and {Leona Cohen-Gould} and {Achim A. Jungbluth} and {Emad A. Rakha} and {Ian O. Ellis} and {Maria I. A. Edelweiss} and Juan {Palazzo} and LARRY {NORTON} and Travis {Hollmann} and Marcia {Edelweiss} and {Brian P. Rubin} and Britta {Weigelt} and {Jorge S. Reis-Filho}\",\n journal=\"NATURE COMMUNICATIONS\",\n volume=\"9\",\n number=\"1\",\n pages=\"1--13\",\n url=\"https://www.acemap.info/paper/1905039\",\n year=\"2018\"\n}" } ] }, { "id": "2258158", "title": "A unique subset of low-risk Wilms tumors is characterized by loss of function of", "abstract": "This study explores the genomic alterations that contribute to the formation of a unique subset of low-risk, epithelial differentiated, favorable histology Wilms tumors (WT), tumors that have been characterized by their expression of post-induction renal developmental genes (Subset 1 WT). We demonstrate copy neutral loss of heterozygosity involving 19q13.32-q13.43, unaccompanied by evidence for imprinting by DNA methylation. We further identified loss-of-function somatic mutations in TRIM28 (also known as KAP1), located at 19q13, in 8/9 Subset 1 tumors analyzed. An additional germline TRIM28 mutation was identified in one patient. Retrospective evaluation of previously analyzed WT outside of Subset 1 identified an additional tumor with anaplasia and both TRIM28 and TP53 mutations. A major function of TRIM28 is the repression of endogenous retroviruses early in development. We depleted TRIM28 in HEK293 cells, which resulted in increased expression of endogenous retroviruses, a finding also demonstrated in TRIM28-mutant WT. TRIM28 has been shown by others to be active during early renal development, and to interact with WTX, another gene recurrently mutated in WT. Our findings suggest that inactivation of TRIM28 early in renal development contributes to the formation of this unique subset of FHWTs, although the precise manner in which TRIM28 impacts both normal renal development and oncogenesis remains elusive.", "source_url": "https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0208936", "doc_type": 4, "year": 2018, "issue": 12, "volume": 13, "first_page": 0, "last_page": 0, "citation_count": 0, "reference_count": 12, "venue": { "id": 2110000215, "name": "PLOS ONE", "abbr": "" }, "author": [ { "id": 1002374375, "name": "Amy E. Armstrong" }, { "id": 1001410420, "name": "Samantha Gadd" }, { "id": 1001410423, "name": "Vicki Huff" }, { "id": 1001181656, "name": "Daniela S. Gerhard" }, { "id": 1001410425, "name": "Jeffrey S. Dome" }, { "id": 1001410419, "name": "Elizabeth J. Perlman" } ], "field": [ { "id": 2015533717, "name": "Glomus tumour" }, { "id": 2008621301, "name": "Glomangioma" }, { "id": 2004556151, "name": "Appendix cancer" }, { "id": 2009549671, "name": "Pseudomyxoma peritonei" } ], "cite": [ { "name": "GB/T 7714", "text": "Armstrong Amy E., Gadd Samantha, Huff Vicki, et al. A unique subset of low-risk Wilms tumors is characterized by loss of function of[J]. PLOS ONE, 2018, 13(12)." }, { "name": "MLA", "text": "Armstrong, Amy E., et al. \"A unique subset of low-risk Wilms tumors is characterized by loss of function of\" PLOS ONE., vol. 13, no. 12, 2018." }, { "name": "APA", "text": "Armstrong Amy E., Gadd Samantha, Huff Vicki, Gerhard Daniela S., Dome Jeffrey S., & Perlman Elizabeth J. (2018). A unique subset of low-risk Wilms tumors is characterized by loss of function of. PLOS ONE, 13(12)." }, { "name": "BibTeX", "text": "@inproceedings{Acemap2258158,\n title=\"A unique subset of low-risk Wilms tumors is characterized by loss of function of\",\n author=\"{Amy E. Armstrong} and Samantha {Gadd} and Vicki {Huff} and {Daniela S. Gerhard} and {Jeffrey S. Dome} and {Elizabeth J. Perlman}\",\n journal=\"PLOS ONE\",\n volume=\"13\",\n number=\"12\",\n url=\"https://www.acemap.info/paper/2258158\",\n year=\"2018\"\n}" } ] }, { "id": "2191238", "title": "Leukocyte Beta-Catenin Expression Is Disturbed in Systemic Lupus Erythematosus", "abstract": "Wnt/β-catenin signaling is relatively understudied in immunity and autoimmunity. β-catenin blocks inflammatory mediators and favors tolerogenic dendritic cell (DC) phenotypes. We show here that leukocytes from lupus-prone mice and SLE patients express diminished β-catenin transcriptional activity, particularly in myeloid cells, although other leukocytes revealed similar trends. Serum levels of DKK-1, an inhibitor under transcriptional control of Wnt/β-catenin, were also decreased in lupus-prone mice. Surprisingly, however, preemptive deletion of β-catenin from macrophages appears to have no effect on lupus development, even in mice with varying genetic loads for lupus. Although myeloid-specific loss of β-catenin does not seem to be important for lupus development, the potential role of this transcription factor in other leukocytes and renal cells remain to be elucidated.", "source_url": "https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161682", "doc_type": 4, "year": 2016, "issue": 8, "volume": 11, "first_page": 0, "last_page": 0, "citation_count": 0, "reference_count": 16, "venue": { "id": 2110000215, "name": "PLOS ONE", "abbr": "" }, "author": [ { "id": 1001497402, "name": "Jacob J. Orme" }, { "id": 1000112045, "name": "Yong Du" }, { "id": 1001400944, "name": "Kamala Vanarsa" }, { "id": 1002172278, "name": "Tianfu Wu" }, { "id": 1002172279, "name": "Anne B. Satterthwaite" }, { "id": 1001400956, "name": "Chandra Mohan" } ], "field": [], "cite": [ { "name": "GB/T 7714", "text": "Orme Jacob J., Du Yong, Vanarsa Kamala, et al. Leukocyte Beta-Catenin Expression Is Disturbed in Systemic Lupus Erythematosus[J]. PLOS ONE, 2016, 11(8)." }, { "name": "MLA", "text": "Orme, Jacob J., et al. \"Leukocyte Beta-Catenin Expression Is Disturbed in Systemic Lupus Erythematosus\" PLOS ONE., vol. 11, no. 8, 2016." }, { "name": "APA", "text": "Orme Jacob J., Du Yong, Vanarsa Kamala, Wu Tianfu, Satterthwaite Anne B., & Mohan Chandra (2016). Leukocyte Beta-Catenin Expression Is Disturbed in Systemic Lupus Erythematosus. PLOS ONE, 11(8)." }, { "name": "BibTeX", "text": "@inproceedings{Acemap2191238,\n title=\"Leukocyte Beta-Catenin Expression Is Disturbed in Systemic Lupus Erythematosus\",\n author=\"{Jacob J. Orme} and Yong {Du} and Kamala {Vanarsa} and Tianfu {Wu} and {Anne B. Satterthwaite} and Chandra {Mohan}\",\n journal=\"PLOS ONE\",\n volume=\"11\",\n number=\"8\",\n url=\"https://www.acemap.info/paper/2191238\",\n year=\"2016\"\n}" } ] }, { "id": "2257082", "title": "Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor", "abstract": "Wilms tumor (WT), the most common cancer of the kidney in infants and children, has a complex etiology that is still poorly understood. Identification of genomic copy number variants (CNV) in tumor genomes provides a better understanding of cancer development which may be useful for diagnosis and therapeutic targets. In paired blood and tumor DNA samples from 14 patients with sporadic WT, analyzed by aCGH, 22% of chromosome abnormalities were novel. All constitutional alterations identified in blood were segmental (in 28.6% of patients) and were also present in the paired tumor samples. Two segmental gains (2p21 and 20q13.3) and one loss (19q13.31) present in blood had not been previously described in WT. We also describe, for the first time, a small, constitutive partial gain of 3p22.1 comprising 2 exons of CTNNB1, a gene associated to WT. Among somatic alterations, novel structural chromosomal abnormalities were found, like gain of 19p13.3 and 20p12.3, and losses of 2p16.1-p15, 4q32.5-q35.1, 4q35.2-q28.1 and 19p13.3. Candidate genes included in these regions might be constitutively (SIX3, SALL4) or somatically (NEK1, PIAS4, BMP2) operational in the development and progression of WT. To our knowledge this is the first report of CNV in paired blood and tumor samples in sporadic WT.", "source_url": "https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0136812", "doc_type": 4, "year": 2015, "issue": 8, "volume": 10, "first_page": 0, "last_page": 0, "citation_count": 0, "reference_count": 4, "venue": { "id": 2110000215, "name": "PLOS ONE", "abbr": "" }, "author": [ { "id": 1002371353, "name": "Leila Cabral de Almeida Cardoso" }, { "id": 1002371354, "name": "Lara Rodriguez-Laguna" }, { "id": 1002371355, "name": "María del Carmen Crespo" }, { "id": 1001640611, "name": "Elena Vallespín" }, { "id": 1002371356, "name": "María Palomares-Bralo" }, { "id": 1002371357, "name": "Rubén Martin-Arenas" }, { "id": 1002371358, "name": "Inmaculada Rueda-Arenas" }, { "id": 1002371359, "name": "Paulo Antonio Silvestre de Faria" }, { "id": 1002371360, "name": "GT-CSGP Working Group" }, { "id": 1002371361, "name": "Purificación García-Miguel" }, { "id": 1001487772, "name": "Pablo Lapunzina" }, { "id": 1001959022, "name": "Fernando Regla Vargas" }, { "id": 1001959024, "name": "Hector N. Seuanez" }, { "id": 1001490900, "name": "Victor Martinez-Glez" } ], "field": [ { "id": 2023692886, "name": "Glomangiosarcoma" }, { "id": 2008621301, "name": "Glomangioma" }, { "id": 2015533717, "name": "Glomus tumour" }, { "id": 2010169572, "name": "Mapatumumab" }, { "id": 2011263863, "name": "Adamantinoma" }, { "id": 2041068275, "name": "Mucinous cystadenoma" }, { "id": 2002561628, "name": "Hematidrosis" } ], "cite": [ { "name": "GB/T 7714", "text": "Cardoso Leila Cabral de Almeida, Rodriguez-Laguna Lara, Crespo María del Carmen, et al. Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor[J]. PLOS ONE, 2015, 10(8)." }, { "name": "MLA", "text": "Cardoso, Leila Cabral de Almeida, et al. \"Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor\" PLOS ONE., vol. 10, no. 8, 2015." }, { "name": "APA", "text": "Cardoso Leila Cabral de Almeida, Rodriguez-Laguna Lara, Crespo María del Carmen, Vallespín Elena, Palomares-Bralo María, Martin-Arenas Rubén, ... & García-Miguel Purificación (2015). Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor. PLOS ONE, 10(8)." }, { "name": "BibTeX", "text": "@inproceedings{Acemap2257082,\n title=\"Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor\",\n author=\"Leila Cabral de Almeida {Cardoso} and {Lara Rodriguez-Laguna} and {María del Carmen Crespo} and {Elena Vallespín} and {María Palomares-Bralo} and {Rubén Martin-Arenas} and {Inmaculada Rueda-Arenas} and Paulo Antonio Silvestre de {Faria} and {GT-CSGP Working Group} and {Purificación García-Miguel} and Pablo {Lapunzina} and Fernando Regla {Vargas} and {Hector N. Seuanez} and {Victor Martinez-Glez}\",\n journal=\"PLOS ONE\",\n volume=\"10\",\n number=\"8\",\n url=\"https://www.acemap.info/paper/2257082\",\n year=\"2015\"\n}" } ] } ]