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https://www.readbyqxmd.com/read/28539120/comprehensive-whole-genome-sequence-analyses-yields-novel-genetic-and-structural-insights-for-intellectual-disability
#1
Farah R Zahir, Jill C Mwenifumbo, Hye-Jung E Chun, Emilia L Lim, Clara D M Van Karnebeek, Madeline Couse, Karen L Mungall, Leora Lee, Nancy Makela, Linlea Armstrong, Cornelius F Boerkoel, Sylvie L Langlois, Barbara M McGillivray, Steven J M Jones, Jan M Friedman, Marco A Marra
BACKGROUND: Intellectual Disability (ID) is among the most common global disorders, yet etiology is unknown in ~30% of patients despite clinical assessment. Whole genome sequencing (WGS) is able to interrogate the entire genome, providing potential to diagnose idiopathic patients. METHODS: We conducted WGS on eight children with idiopathic ID and brain structural defects, and their normal parents; carrying out an extensive data analyses, using standard and discovery approaches...
May 24, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28507453/erratum-to-suppression-of-spry4-enhances-cancer-stem-cell-properties-of-human-mda-mb-231-breast-carcinoma-cells
#2
Hongyu Jing, Lucy Liaw, Robert Friesel, Calvin Vary, Shucheng Hua, Xuehui Yang
[This corrects the article DOI: 10.1186/s12935-016-0292-7.].
2017: Cancer Cell International
https://www.readbyqxmd.com/read/28446723/up-regulation-of-long-non-coding-rna-spry4-it1-promotes-tumor-cell-migration-and-invasion-in-lung-adenocarcinoma
#3
Xia Zhang, Qingyan Chi, Zhenhua Zhao
Long non-coding RNAs (lncRNAs) play important role in a variety of biological processes, and are tightly associated with tumorigenesis and cancer prognosis. However, the potential power of lncRNA signatures in predicting survival of patients with lung adenocarcinoma (LUAD) has not been investigated. Here, we identified a four-lncRNA signature (SPRY4-IT1, LINC00941,GPR158-AS1 and KCNK15-AS1) displaying prognostic values for LUAD using The Cancer Genome Atlas (TCGA) dataset. Based on the four-lncRNA signature, the LUAD patients can be classified into high-risk and low-risk groups with significantly different survival...
April 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28446530/long-non-coding-rnas-and-their-role-in-metastasis
#4
REVIEW
Ulrich H Weidle, Fabian Birzele, Gwen Kollmorgen, Rüdiger Rüger
The perception of long non-coding RNAs as chunk RNA and transcriptional noise has been steadily replaced by their role as validated targets for a diverse set of physiological processes in the past few years. However, for the vast majority of lncRNAs their precise mode of action and physiological function remain to be uncovered. A large body of evidence has revealed their essential role in all stages of cancirogenesis and metastasis. In this review we focus on the role of lncRNAs in metastasis. We grouped selected lncRNAs into three categories based on in vitro and in vivo mode of action-related studies and clinical relevance for metastasis...
May 2017: Cancer Genomics & Proteomics
https://www.readbyqxmd.com/read/28410241/prognostic-role-of-the-long-non-coding-rna-spry4-intronic-transcript-1-in-patients-with-cancer-a-meta-analysis
#5
Miaojuan Wang, Xuejun Dong, Yi Feng, Honggang Sun, Ningping Shan, Tao Lu
Recent studies have emphasized the important role of long non-coding RNAs (lncRNAs) in cancer development. The present study performed a meta-analysis to investigate whether lncRNA, SPRY4 Intronic Transcript 1(SPRY4-IT1) can be served as a potential biomarker for prognosis in human cancers. The eligible studies were collected by searching multiple online databases (Pubmed, EMBASE, CNKI, Web of Science and Google Scholar) and meta-analysis was performed to explore the association between the expression levels of SPRY4-IT1 and overall survival (OS), disease-free survival (DFS) and clinicopathological parameters...
May 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28394519/-genetic-risk-factors-for-sporadic-germ-cell-testicular-tumors
#6
M V Nemtsova, E V Ivkin, A A Tryakin, V V Rudenko, I S Dantsev, S A Tyulyandin, O B Loran
INTRODUCTION: Approximately 95% of all testicular cancers are testicular germ cell tumors (GCTTs), represented by seminoma and nonseminoma germ cell testicular cancer. There is a hypothesis that the formation of GCTTs begins in early embryogenesis being a part of testicular dysgenesis syndrome (TDS). AIM: To determine the role of genetic factors in the development of GCTTs. MATERIALS AND METHODS: We studied the frequency of alleles and genotypes KITLG (rs995030, rs1508595), SPRY4 (rs4624820, rs6897876) and BAK1 (rs210138) in 97 fertile men (control), and 73 patients with GCTTs (34 seminoma and 39 nonseminoma)...
April 2017: Urologii︠a︡
https://www.readbyqxmd.com/read/28382860/dysregulation-of-lncrnas-in-placenta-and-pathogenesis-of-preeclampsia
#7
Xuejing Song, Xiucui Luo, Quansheng Gao, Yuhuan Wang, Qing Gao, Wei Long
Preeclampsia, a gestational disease characterized by hypertension and proteinuria twenty weeks into pregnancy, is one of the leading causes of fetal and maternal mortality. Although multiple genetic and environmental factors are found to be related to the preeclampsia risk, the pathogenic pathways remain largely undefined. The placenta plays a critical role in the fetal development by carrying out the barrier, fetal-maternal exchange, and endocrine functions during pregnancy. Accumulated data indicated that the expression of multiple long noncoding RNA (LncRNA) is dysregulated in preeclamptic placentas...
April 4, 2017: Current Drug Targets
https://www.readbyqxmd.com/read/28361700/plant-mirnas-found-in-human-circulating-system-provide-evidences-of-cross-kingdom-rnai
#8
Yu-Chen Liu, Wen Liang Chen, Wei-Hsiang Kung, Hsien-Da Huang
BACKGROUND: Emerging evidence indicates that plant miRNAs can present within human circulating system through dietary intake and regulate human gene expression. Hence we deduced that comestible plants miRNAs can be identified in the public available small RNA sequencing data sets. RESULTS: In this study, we identified abundant plant miRNAs sequences from 410 human plasma small RNA sequencing data sets. One particular plant miRNA miR2910, conserved in fruits and vegetables, was found to present in high relative amount in the plasma samples...
March 14, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28295819/variants-in-bak1-spry4-and-gab2-are-associated-with-pediatric-germ-cell-tumors-a-report-from-the-children-s-oncology-group
#9
Erin L Marcotte, Nathan Pankratz, James F Amatruda, A Lindsay Frazier, Mark Krailo, Stella Davies, Jacqueline R Starr, Ching C Lau, Michelle Roesler, Erica Langer, Caroline Hallstrom, Anthony J Hooten, Jenny N Poynter
Germ cell tumors (GCT) are a rare form of childhood cancer that originate from the primordial germ cell. Recent genome-wide association studies (GWAS) have identified susceptibility alleles for adult testicular GCT (TGCT). We test whether these SNPs are associated with GCT in pediatric and adolescent populations. This case-parent triad study includes individuals with GCT diagnosed between ages 0 and 19. We evaluated 26 SNPs from GWAS of adult TGCT and estimated main effects for pediatric GCT within complete trios (N = 366) using the transmission disequilibrium test...
July 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28275056/k-homology-splicing-regulatory-protein-ksrp-promotes-post-transcriptional-destabilization-of-spry4-transcripts-in-non-small-cell-lung-cancer
#10
Rama Kamesh Bikkavilli, Sereke Adam Zerayesus, Michelle Van Scoyk, Lora Wilson, Pei-Ying Wu, Abhinaya Baskaran, Ke Tang, Syed Raheem, Blain A Samuelson, Narsa M Reddy, Sekhar P Reddy, Carlyne D Cool, Beata Kosmider, Sreedevi Avasarala, Robert A Winn
AU-rich element-binding proteins (ARE-BPs) offer post-transcriptional regulation of gene expression via physical interaction and recruitment of RNA decay machinery to the AU-rich elements within the 3'-UTR of the target transcripts. However, the role of ARE-BPs in lung cancer remains poorly understood. In this study, we have identified that K-homology splicing regulatory protein (KSRP), an ARE-BP, is robustly up-regulated in human lung cancer. Importantly, Kaplan-Meier survival analysis indicated that elevated KSRP expression was correlated with poor overall survival of lung cancer patients...
May 5, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28247935/prognostic-significance-of-long-noncoding-rna-z38-as-a-candidate-biomarker-in-breast-cancer
#11
Zhen-Lin Nie, Yi-Shan Wang, Yan-Ping Mei, Xin Lin, Guo-Xing Zhang, Hui-Ling Sun, Yi-Lian Wang, Yong-Xiang Xia, Shu-Kui Wang
BACKGROUND: Long noncoding RNA (lncRNA) Z38 has been shown to promote cell proliferation and tumorigenesis in breast cancer. However, expression pattern and prognostic value of lncRNA Z38 in breast cancer patients remain elusive. METHODS: The expression levels of SPRY4-IT1 in 110 self-paired specimens of breast cancer and adjacent normal breast tissues were measured by quantitative real-time PCR (qRT-PCR), and its correlation with overall survival of patients with breast cancer was further statistically analyzed...
March 1, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28129625/upregulation-of-the-long-non-coding-rna-spry4-it1-indicates-a-poor-prognosis-and-promotes-tumorigenesis-in-ovarian-cancer
#12
Hongxia Li, Chunhua Liu, Zhanbin Lu, Li Chen, Juan Wang, Yindi Li, Huiping Ma
Long non-coding RNAs (lncRNAs) have been identified to be critical mediators in various tumors associated with cancer progression. LncRNA SPRY4-IT1 serves as a novel prognostic biomarker for hepatocellular carcinoma. However, the biological role and clinical significance of lncRNA SPRY4-IT1 in human ovarian cancer (OC) need to be completely elucidated. The aim of the present study was to explore the lncRNA SPRY4-IT1 expression in human OC patients and its role in OC cells. We show that lncRNA SPRY4-IT1 expression is significantly upregulated in ovarian tumor tissues and OC cell lines in comparison with adjacent non-tumor control tissues and the human ovarian immortalized nontumorigenic ovarian surface epithelial (IOSE), respectively...
April 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28099409/up-regulated-expression-of-spry4-it1-predicts-poor-prognosis-in-colorectal-cancer
#13
Wenlong Tan, Zi-Zheng Song, Qunfang Xu, Xinyan Qu, Zhen Li, Yu Wang, Qun Yu, Shengqi Wang
BACKGROUND Long non-coding RNA SPRY4 intronic transcript 1 (lncRNA SPRY4-IT1) has been reported to be associated with the progression of several cancers, but its expression level in colorectal cancer (CRC) has rarely been reported. The purpose of this study was to estimate the clinical significance of SPRY4-IT1 in CRC. MATERIAL AND METHODS The relative expression levels of SPRY4-IT1 were detected by quantitative real-time polymerase chain reaction (qRT-PCR) in diseased tissues and the adjacent normal tissues of 106 CRC patients...
January 18, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28064312/-polymorphisms-of-kitlg-spry4-and-bak1-genes-in-patients-with-testicular-germ-cell-tumors-and-individuals-with-infertility-associated-with-azfc-deletion-of-the-y-chromosome
#14
M V Nemtsova, E V Ivkin, O A Simonova, V V Rudenko, V B Chernykh, D S Mikhaylenko, O B Loran
Testicular cancer is the most common form of solid cancer in young men. Testicular cancer is represented by testicular germ cell tumors (TGCTs) derived from embryonic stem cells with different degrees of differentiation in about 95% of cases. The development of these tumors is related to the formation of a pool of male germ cells and gametogenesis. Clinical factors that are predisposed to the development of germ-cell tumors include cryptorchidism and testicular microlithiasis, as well as infertility associated with the gr/gr deletion within the AZFс locus...
November 2016: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/28054316/long-non-coding-rna-spry4-it1-can-predict-unfavorable-prognosis-and-lymph-node-metastasis-a-meta-analysis
#15
Nandi Li, Qian Tan, Wei Jing, Ping Luo, Jiancheng Tu
Emerging evidences suggested that long non-coding RNAs (lncRNAs) play an interesting role in the tumor development and progression in various types of cancer. The aim of this study was to analyse the potential prognostic value for cancer patients . We systematically searched the reports through PubMed, Web of Science, Medline, CNKI, and the Cochrane Library from inception to March, 2016, and carefully identified according to eligibility criteria. This quantitative meta-analysis collected all relevant articles to investigated the association of SPRY4-IT1 expression status with overall survival (OS) and lymph node metastasis (LNM)...
January 4, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/27998761/lncrna-spry4-it1-sponges-mir-101-3p-to-promote-proliferation-and-metastasis-of-bladder-cancer-cells-through-up-regulating-ezh2
#16
Dong Liu, Yawei Li, Gang Luo, Xingyuan Xiao, Dan Tao, Xinchao Wu, Miao Wang, Chao Huang, Liang Wang, Fuqing Zeng, Guosong Jiang
Emerging evidences have indicated that long non-coding RNAs (LncRNAs) play vital roles in cancer development and progression. Previous studies have suggested that overexpression of SPRY4-IT1 predicates poor prognosis and promotes tumor progress in several cancers. However, the underlying mechanism of SPRY4-IT1 in bladder cancer remains unknown. In this study, we found that SPRY4-IT1 knockdown induced inhibition of cell proliferation, cell migration and invasion ability, and caused promotion of apoptosis in bladder cancer both in vitro and in vivo...
March 1, 2017: Cancer Letters
https://www.readbyqxmd.com/read/27997895/lower-expression-of-spry4-predicts-a-poor-prognosis-and-regulates-cell-proliferation-in-colorectal-cancer
#17
Xiaoling Zhou, Sheng Xie, Chunluan Yuan, Li Jiang, Xiaoyan Huang, Liumei Li, Yan Chen, Lichuan Luo, Jianxuan Zhang, Daogang Wang, Lijian Liu, Wei Shi, Liang Han, Nong Tang, Yunxi Ji
BACKGROUND/AIMS: Colorectal cancer (CRC) is the third most common type of cancer worldwide. Sprouty proteins are modulators of mitogeninduced signal transduction processes and therefore can influence the process of cancerogenesis. The encoded protein of Sprouty homolog 4 (SPRY4) is associated with various human cancers. However, its biological role and clinical significance in CRC development and progression are unknown. METHODS: The aim of this study was to evaluate the expression and biological role of SPRY4 in colorectal cancer...
2016: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/27956498/h3k27-acetylation-activated-long-non-coding-rna-ccat1-affects-cell-proliferation-and-migration-by-regulating-spry4-and-hoxb13-expression-in-esophageal-squamous-cell-carcinoma
#18
Erbao Zhang, Liang Han, Dandan Yin, Xuezhi He, Linzhi Hong, Xinxin Si, Mantang Qiu, Tongpeng Xu, Wei De, Lin Xu, Yongqian Shu, Jinfei Chen
Recently, long non-coding RNAs (lncRNAs) have been shown to have important regulatory roles in human cancer biology. In our study, we found that lncRNA CCAT1, whose expression is significantly increased and is correlated with outcomes in Esophageal Squamous Cell Carcinoma (ESCC). Consecutive experiments confirmed that H3K27-acetylation could activate expression of colon cancer associated transcript-1 (CCAT1). Further experiments revealed that CCAT1 knockdown significantly repressed the proliferation and migration both in vitro and in vivo...
April 7, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/27902971/long-non-coding-rna-spry4-it1-promotes-gallbladder-carcinoma-progression
#19
Liang Yang, Xi Cheng, Naijian Ge, Weixing Guo, Feiling Feng, Fuying Wan
Gallbladder carcinoma (GBC) is the most common malignancy of the bile duct and patients with GBC have extremely poor prognoses. Long non-coding RNAs (lncRNAs) are found to be dysregulated in a variety of cancers, including GBC. SPRY4-IT1 has been recently revealed as oncogenic regulator in many cancers. However, whether SPRY4-IT1 is involved in GBC progression remains largely unknown. To investigate the role of SPRY4-IT1 in GBC, we evaluated the expression SPRY4-IT1 in GBC tissues and cell lines, and investigated the effect of SPRY4-IT1 knockdown on cell proliferation, migration and invasion of GBC in vitro...
January 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/27899259/overexpression-of-the-long-non-coding-rna-spry4-it1-promotes-tumor-cell-proliferation-and-invasion-by-activating-ezh2-in-hepatocellular-carcinoma
#20
Meng Zhou, Xiao-Yu Zhang, Xi Yu
BACKGROUND: Increasing evidences have demonstrated that the dysregulation of long non-coding RNAs (lncRNAs) may act as an important role in tumor progression. The long non-coding RNA SPRY4 intronic transcript 1 (SPRY4-IT1) has been reported in some cancer including regulating cell growth, differentiation, apoptosis, and cancer progression. However, the expression and function of SPRY4-IT1 in the progression of hepatocellular carcinoma (HCC) remain largely unknown. METHODS: The lncRNA SPRY4-IT1 was detected by quantitative real time PCR (qRT-PCR) in HCC cell lines, CCK8 cell proliferation and transwell invasion assays were performed to detect the GC cell proliferation and invasion abilities...
January 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
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