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Eun Ji Choi, Min Sung Kim, Sang Yong Song, Nam Jin Yoo, Sug Hyung Lee
MECOM gene, also known as EVI, encodes a transcriptional regulator involved in hematopoiesis, apoptosis, development and proliferation. In blood system, MECOM is considered an oncogene, but in solid tumors it has both oncogenic and tumor suppressor activities. Low frequent somatic mutations of MECOM have been detected in many cancers including colorectal cancers (CRC), but the mutation status with respect to the microsatellite instability (MSI) has not been studied. There is an A7 mononucleotide repeat in MECOM coding sequences that could be a mutation target in the cancers with MSI...
September 13, 2016: Pathology Oncology Research: POR
Chao Shen, Ming-Tai Chen, Xin-Hua Zhang, Xiao-Lin Yin, Hong-Mei Ning, Rui Su, Hai-Shuang Lin, Li Song, Fang Wang, Yan-Ni Ma, Hua-Lu Zhao, Jia Yu, Jun-Wu Zhang
MicroRNA-22 (miR-22) is emerging as a critical regulator in organ development and various cancers. However, its role in normal hematopoiesis and leukaemogenesis remains unclear. Here, we detected its increased expression during monocyte/macrophage differentiation of HL-60, THP1 cells and CD34+ hematopoietic stem/progenitor cells, and confirmed that PU.1, a key transcriptional factor for monocyte/macrophage differentiation, is responsible for transcriptional activation of miR-22 during the differentiation. By gain- and loss-of-function experiments, we demonstrated that miR-22 promoted monocyte/macrophage differentiation, and MECOM (EVI1) mRNA is a direct target of miR-22 and MECOM (EVI1) functions as a negative regulator in the differentiation...
September 2016: PLoS Genetics
Linya You, Lin Li, Jinfeng Zou, Kezhi Yan, Jad Belle, Anastasia Nijnik, Edwin Wang, Xiang-Jiao Yang
Hematopoietic stem cells (HSCs) serve as a life-long reservoir for all blood cell types and are clinically useful for a variety of HSC transplantation-based therapies. Understanding the role of chromatin organization and regulation in HSC homeostasis may provide important insights into HSC development. Bromodomain- and PHD finger-containing protein 1 (BRPF1) is a multivalent chromatin regulator that possesses 4 nucleosome-binding domains and activates 3 lysine acetyltransferases (KAT6A, KAT6B, and KAT7), suggesting that this protein has the potential to stimulate crosstalk between different chromatin modifications...
September 1, 2016: Journal of Clinical Investigation
Margaret Lewen, Renee Gresh, Maria Queenan, Michele Paessler, Vinodh Pillai, Elizabeth Hexner, Dale Frank, Adam Bagg, Richard Aplenc, Emi Caywood, Gerald Wertheim
BACKGROUND: Chronic myeloid leukemia (CML) comprises ~3 % of pediatric leukemia. Although therapy with tyrosine kinase inhibitors (TKIs) is highly effective for CML, multiple factors have been identified as predictive of treatment failure. Chromosomal abnormalities involving the MECOM locus at 3q26 portend therapy resistant disease in adults, yet have never been described in pediatric patients and have not been associated with T lymphoblastic progression. CASE PRESENTATION: We present a case of an 11-year-old boy with CML possessing the unique combination of T lymphoblastic transformation and a subclone harboring inv(3)(q21q26...
2016: Biomarker Research
Anna Savoia
PURPOSE OF REVIEW: Inherited thrombocytopenias are a heterogeneous group of diseases caused by mutations in many genes. They account for approximately only 50% of cases, suggesting that novel genes have yet to be identified for a comprehensive understanding of platelet biogenesis defects. This review provides an update of the last year of discoveries on inherited thrombocytopenias focusing on the molecular basis and potential pathogenic mechanisms affecting megakaryopoiesis and platelet production...
September 2016: Current Opinion in Hematology
Edouard Cornet, Hossein Mossafa, Karine Courel, Jean-François Lesesve, Xavier Troussard
BACKGROUND: Persistent Polyclonal Binucleated B-cell Lymphocytosis (PPBL) is characterized by a chronic polyclonal B-cell lymphocytosis with binucleated lymphocytes and a polyclonal increase in serum immunoglobulin-M. Cytogenetic is characterized by the presence of a supernumerary isochromosome +i(3)(q10), premature chromosome condensation and chromosomal instability. Outcome of PPBL patients is mostly benign, but subsequent malignancies could occur. The aim of our study is to provide an update of clinical and cytogenetic characteristics of our large cohort of PPBL patients, to describe subsequent malignancies occurring during the follow-up, and to investigate the role of the long arm of chromosome 3 in PPBL...
2016: BMC Research Notes
Aiwu Hou, Lizhen Zhao, Fuzhen Zhao, Weiliang Wang, Jianyi Niu, Bingxuan Li, Zhongjin Zhou, Dongyuan Zhu
BACKGROUND: MDS1 and EVI1 complex locus protein EVI1 (MECOM) is an oncogenic transcription factor in several kinds of cancers. However, the clinical significance of MECOM in glioblastoma multiforme (GBM) has not been well elucidated. PATIENTS AND METHODS: Our study enrolled 86 resected samples of GBM in three medical centers. We detected the expression of MECOM in all the 86 samples by immunohistochemistry and compared the difference of MECOM mRNA between tumor tissues and adjacent tissues with real-time polymerase chain reaction...
2016: OncoTargets and Therapy
Carmen Baldazzi, Simona Luatti, Elisa Zuffa, Cristina Papayannidis, Emanuela Ottaviani, Giulia Marzocchi, Gaia Ameli, Maria Antonella Bardi, Laura Bonaldi, Rossella Paolini, Carmela Gurrieri, Gian Matteo Rigolin, Antonio Cuneo, Giovanni Martinelli, Michele Cavo, Nicoletta Testoni
Chromosomal rearrangements involving 3q26 are recurrent findings in myeloid malignancies leading to MECOM overexpression, which has been associated with a very poor prognosis. Other 3q abnormalities have been reported and cryptic MECOM rearrangements have been identified in some cases. By fluorescence in situ hybridization (FISH) analysis, we investigated 97 acute myeloid leukemia/myelodysplastic syndrome patients with various 3q abnormalities to determine the role and the frequency of the involvement of MECOM...
April 2016: Genes, Chromosomes & Cancer
Otgonbat Altangerel, Shannan Cao, Juanxia Meng, Peng Liu, Gong Haiyan, Yuanfu Xu, Mingfeng Zhao
Chronic neutrophilic leukemia (CNL) is a rare type of myeloproliferative neoplasm, characterized by sustained neutrophilia, splenomegaly, bone marrow granulocytic hyperplasia (without evidence of dysplasia) and an absence of the Philadelphia chromosome. Thus far, ~150 cases of CNL have been described in the literature; however, none have demonstrated overexpression of the ecotropic viral integration site-1 (EVI-1, also known as MECOM) gene. The present study describes a case that fulfilled the World Health Organization diagnostic criteria for CNL, and was associated with overexpression of EVI-1, as well as novel concurrent mutations of colony stimulating factor 3 receptor (CSF3R) and SET binding protein-1 (SETBP1)...
September 2015: Oncology Letters
Derek Hood, Richard Moxon, Tom Purnell, Caroline Richter, Debbie Williams, Ali Azar, Michael Crompton, Sara Wells, Martin Fray, Steve D M Brown, Michael T Cheeseman
Acute otitis media, inflammation of the middle ear, is the most common bacterial infection in children and, as a consequence, is the most common reason for antimicrobial prescription to this age group. There is currently no effective vaccine for the principal pathogen involved, non-typeable Haemophilus influenzae (NTHi). The most frequently used and widely accepted experimental animal model of middle ear infection is in chinchillas, but mice and gerbils have also been used. We have established a robust model of middle ear infection by NTHi in the Junbo mouse, a mutant mouse line that spontaneously develops chronic middle ear inflammation in specific pathogen-free conditions...
January 2016: Disease Models & Mechanisms
Tetsuya Niihori, Meri Ouchi-Uchiyama, Yoji Sasahara, Takashi Kaneko, Yoshiko Hashii, Masahiro Irie, Atsushi Sato, Yuka Saito-Nanjo, Ryo Funayama, Takeshi Nagashima, Shin-Ichi Inoue, Keiko Nakayama, Keiichi Ozono, Shigeo Kure, Yoichi Matsubara, Masue Imaizumi, Yoko Aoki
Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is an inherited bone marrow failure syndrome, characterized by thrombocytopenia and congenital fusion of the radius and ulna. A heterozygous HOXA11 mutation has been identified in two unrelated families as a cause of RUSAT. However, HOXA11 mutations are absent in a number of individuals with RUSAT, which suggests that other genetic loci contribute to RUSAT. In the current study, we performed whole exome sequencing in an individual with RUSAT and her healthy parents and identified a de novo missense mutation in MECOM, encoding EVI1, in the individual with RUSAT...
December 3, 2015: American Journal of Human Genetics
Arjan Bouman, Lia Knegt, Stefan Gröschel, Claudia Erpelinck, Mathijs Sanders, Ruud Delwel, Taco Kuijpers, Jan Maarten Cobben
Interstitial deletions encompassing the 3q26.2 region are rare. Only one case-report was published this far describing a patient with an interstitial deletion of 3q26.2 (involving the MDS1-EVI1 complex (MECOM)) and congenital thrombocytopenia. In this report we describe a case of a neonate with congenital thrombocytopenia and a constitutional 4.52 Mb deletion of 3q26.2q26.31 including TERC and the first 2 exons of MECOM, involving MDS1 but not EVI1. The deletion was demonstrated by array-CGH on lymphocytes...
February 2016: American Journal of Medical Genetics. Part A
Jin-Xin Bei, Wen-Hui Su, Ching-Ching Ng, Kai Yu, Yoon-Ming Chin, Pei-Jen Lou, Wan-Lun Hsu, James D McKay, Chien-Jen Chen, Yu-Sun Chang, Li-Zhen Chen, Ming-Yuan Chen, Qian Cui, Fu-Tuo Feng, Qi-Shen Feng, Yun-Miao Guo, Wei-Hua Jia, Alan Soo-Beng Khoo, Wen-Sheng Liu, Hao-Yuan Mo, Kin-Choo Pua, Soo-Hwang Teo, Ka-Po Tse, Yun-Fei Xia, Hongxin Zhang, Gang-Qiao Zhou, Jian-Jun Liu, Yi-Xin Zeng, Allan Hildesheim
BACKGROUND: Genetic loci within the major histocompatibility complex (MHC) have been associated with nasopharyngeal carcinoma (NPC), an Epstein-Barr virus (EBV)-associated cancer, in several GWAS. Results outside this region have varied. METHODS: We conducted a meta-analysis of four NPC GWAS among Chinese individuals (2,152 cases; 3,740 controls). Forty-three noteworthy findings outside the MHC region were identified and targeted for replication in a pooled analysis of four independent case-control studies across three regions in Asia (4,716 cases; 5,379 controls)...
January 2016: Cancer Epidemiology, Biomarkers & Prevention
Victoria C Garside, Rebecca Cullum, Olivia Alder, Daphne Y Lu, Ryan Vander Werff, Mikhail Bilenky, Yongjun Zhao, Steven J M Jones, Marco A Marra, T Michael Underhill, Pamela A Hoodless
Heart valve formation initiates when endothelial cells of the heart transform into mesenchyme and populate the cardiac cushions. The transcription factor SOX9 is highly expressed in the cardiac cushion mesenchyme, and is essential for heart valve development. Loss of Sox9 in mouse cardiac cushion mesenchyme alters cell proliferation, embryonic survival, and valve formation. Despite this important role, little is known about how SOX9 regulates heart valve formation or its transcriptional targets. Therefore, we mapped putative SOX9 binding sites by ChIP-Seq in E12...
December 15, 2015: Development
Jun Gu, Keyur P Patel, Bing Bai, Ching-Hua Liu, Guilin Tang, Hagop M Kantarjian, Zhenya Tang, Ronald Abraham, Rajyalakshmi Luthra, L Jeffrey Medeiros, Pei Lin, Xinyan Lu
BACKGROUND: Acute myeloid leukemia (AML) with inv(3)(q21q26.2)/t(3;3)(q21;q26.2) is a distinct clinicopathologic entity with a poor prognosis. However, double inv(3)(q21q26.2) is extremely rare in AML. We report here 3 cases analyzed by oligonucleotide microarray comparative genomic hybridization (aCGH) and single nucleotide polymorphism (SNP). Clinicopathologic, cytogenetic and molecular findings were correlated with clinical outcome to better understand the entity. RESULTS: The study group included one man and two women at 56-74 years of age...
2015: Molecular Cytogenetics
A Sayadi, J Jeyakani, S H Seet, C-L Wei, G Bourque, F A Bard, N A Jenkins, N G Copeland, E A Bard-Chapeau
The MDS1 and ecotropic viral integration site 1 (EVI1) complex locus (MECOM) gene encodes several transcription factor variants including MDS1-EVI1, EVI1 and EVI1Δ324. Although MDS1-EVI1 has been associated with tumor-suppressing activity, EVI1 is a known oncogene in various cancers, whose expression is associated with poor patient survival. Although EVI1Δ324 is co-transcribed with EVI1, its activity in cancer cells is not fully understood. Previous reports described that unlike EVI1, EVI1Δ324 protein cannot transform fibroblasts because of its disrupted N-terminal zinc finger (ZNF) domain...
May 5, 2016: Oncogene
Jonathan J Lee, Lynette M Sholl, Neal I Lindeman, Scott R Granter, Alvaro C Laga, Priyanka Shivdasani, Gary Chin, Jason J Luke, Patrick A Ott, F Stephen Hodi, Martin C Mihm, Jennifer Y Lin, Andrew E Werchniak, Harley A Haynes, Nancy Bailey, Robert Liu, George F Murphy, Christine G Lian
BACKGROUND: Recent developments in genomic sequencing have advanced our understanding of the mutations underlying human malignancy. Melanoma is a prototype of an aggressive, genetically heterogeneous cancer notorious for its biologic plasticity and predilection towards developing resistance to targeted therapies. Evidence is rapidly accumulating that dysregulated epigenetic mechanisms (DNA methylation/demethylation, histone modification, non-coding RNAs) may play a central role in the pathogenesis of melanoma...
2015: Clinical Epigenetics
Keiko Kokoroishi, Ayumu Nakashima, Shigehiro Doi, Toshinori Ueno, Toshiki Doi, Yukio Yokoyama, Kiyomasa Honda, Masami Kanawa, Yukio Kato, Nobuoki Kohno, Takao Masaki
BACKGROUND: High glucose (HG) induces production of transforming growth factor-beta1 (TGF-β1), but the mechanism remains elusive. The aim of this study was to determine the gene(s) involved in HG-induced TGF-β1 production in human peritoneal mesothelial cells (HPMCs). METHODS: Microarray analysis was performed following a 3-h preincubation of HPMCs in 4 or 0.1% glucose medium. Transcriptional genes were selected using Gene Ontology analysis for biological processes, including regulation of transcription and DNA-dependent...
February 2016: Clinical and Experimental Nephrology
Kohichiroh Yasui, Chika Konishi, Yasuyuki Gen, Mio Endo, Osamu Dohi, Akira Tomie, Tomoko Kitaichi, Nobuhisa Yamada, Naoto Iwai, Taichiro Nishikawa, Kanji Yamaguchi, Michihisa Moriguchi, Yoshio Sumida, Hironori Mitsuyoshi, Shinji Tanaka, Shigeki Arii, Yoshito Itoh
EVI1 (ecotropic viral integration site 1) is one of the most aggressive oncogenes associated with myeloid leukemia. We investigated DNA copy number aberrations in human hepatocellular carcinoma (HCC) cell lines using a high-density oligonucleotide microarray. We found that a novel amplification at the chromosomal region 3q26 occurs in the HCC cell line JHH-1, and that MECOM (MDS1 and EVI1 complex locus), which lies within the 3q26 region, was amplified. Quantitative PCR analysis of the three transcripts transcribed from MECOM indicated that only EVI1, but not the fusion transcript MDS1-EVI1 or MDS1, was overexpressed in JHH-1 cells and was significantly upregulated in 22 (61%) of 36 primary HCC tumors when compared with their non-tumorous counterparts...
July 2015: Cancer Science
María E Fernández, Alberto Prando, Andrés Rogberg-Muñoz, Pilar Peral-García, Andrés Baldo, Guillermo Giovambattista, Juan P Lirón
Age at puberty is an important component of reproductive performance in cattle, so it is important to identify genes that contribute to the regulation of the onset of puberty and polymorphisms that explain differences between bulls. In a previous study, we found putative associations between age at puberty in Angus bulls and single-nucleotide polymorphisms (SNPs) in Chromosomes 1 and X. In the present work we aimed to confirm these findings in a larger sample of Angus bulls (n = 276). Four SNPs located in these regions were genotyped using SEQUENOM technology and the genotypes obtained were tested for association with age at puberty...
May 8, 2015: Reproduction, Fertility, and Development
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