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https://www.readbyqxmd.com/read/29731991/targeted-next-generation-sequencing-of-well-differentiated-dedifferentiated-liposarcoma-reveals-novel-gene-amplifications-and-mutations
#1
Neeta Somaiah, Hannah C Beird, Andrea Barbo, Juhee Song, Kenna R Mills Shaw, Wei-Lien Wang, Karina Eterovic, Ken Chen, Alexander Lazar, Anthony P Conley, Vinod Ravi, Patrick Hwu, Andrew Futreal, George Simon, Funda Meric-Bernstam, David Hong
Well-differentiated/dedifferentiated liposarcoma is a common soft tissue sarcoma with approximately 1500 new cases per year. Surgery is the mainstay of treatment but recurrences are frequent and systemic options are limited. 'Tumor genotyping' is becoming more common in clinical practice as it offers the hope of personalized targeted therapy. We wanted to evaluate the results and the clinical utility of available next-generation sequencing panels in WD/DD liposarcoma. Patients who had their tumor sequenced by either FoundationOne ( n = 13) or the institutional T200/T200...
April 13, 2018: Oncotarget
https://www.readbyqxmd.com/read/29676954/genome-wide-association-study-identifies-loci-and-candidate-genes-for-internal-organ-weights-in-simmental-beef-cattle
#2
Bingxing An, Jiangwei Xia, Tianpeng Chang, Xiaoqiao Wang, Jian Miao, Lingyang Xu, Lupei Zhang, Xue Gao, Yan Chen, Junya Li, Huijiang Gao
Cattle internal organs as accessible raw materials have a long history of being widely used in beef processing, feed and pharmaceutical industry. These traits not only are of economic interest to breeders, but they are intrinsically linked to many valuable traits, such as growth, health, and productivity. Using the Illumina Bovine HD 770K SNP array, we performed a genome-wide association study for heart weight (HW), liver weight (LIW), spleen weight (SW), lung weight (LUW) and kidney weight (KW) in 1217 Simmental cattle...
April 20, 2018: Physiological Genomics
https://www.readbyqxmd.com/read/29666571/pleiotropic-contribution-of-mecom-and-avpr1a-to-aggression-and-subcortical-brain-volumes
#3
Marjolein M J van Donkelaar, Martine Hoogman, Irene Pappa, Henning Tiemeier, Jan K Buitelaar, Barbara Franke, Janita Bralten
Reactive and proactive subtypes of aggression have been recognized to help parse etiological heterogeneity of this complex phenotype. With a heritability of about 50%, genetic factors play a role in the development of aggressive behavior. Imaging studies implicate brain structures related to social behavior in aggression etiology, most notably the amygdala and striatum. This study aimed to gain more insight into the pathways from genetic risk factors for aggression to aggression phenotypes. To this end, we conducted genome-wide gene-based cross-trait meta-analyses of aggression with the volumes of amygdala, nucleus accumbens and caudate nucleus to identify genes influencing both aggression and aggression-related brain volumes...
2018: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/29666008/h2afy-is-a-novel-fusion-partner-of-mecom-in-acute-myeloid-leukemia
#4
Qiaoyan Han, Jiao Lu, Jianjiang Wang, Jinsong Ye, Xin Jiang, Haoyue Chen, Chunhua Liu, Lu Chen, Tong Lin, Suning Chen, Miao Sun, Feng Gao
The MECOM gene encoding a zinc finger protein that functions as a transcription factor, was located on chromosome 3q26, and rearrangements of MECOM often cause its overexpression in acute myeloid leukemia (AML). We identified H2AFY as a novel fusion gene partner of MECOM in an elderly male AML patient with cryptic 3q26 rearrangement using the whole transcriptome sequencing, who carried out abnormal karyotype of 46,XY,t(3;5)(q27;q31),add(14)(p11). We validated the existence of the unreported H2AFY-MECOM fusion gene by RT-PCR and Sanger DNA sequencing, and detected mutations of NRAS and BCOR in this patient...
April 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29666005/unexpected-favorable-outcome-in-a-patient-with-high-grade-b-cell-lymphoma-with-abnormalities-of-myc-bcl6-and-bcl2-loci
#5
Thomas Adams, Deborah Fuchs, Patricia K Shadoan, Laurel Johnstone, Branden M Lau, Lee McGhan, Faiz Anwer, Hussam Al-Kateb
High grade B-cell lymphoma (HGBCL) by WHO 2016 classification requires rearrangements of MYC and BCL2 and/or BCL6, practically covering the so called "double-hit" or "triple hit" lymphomas. We report a case of HGBCL "triple-hit" lymphoma in a 64-year old female. Cytogenetic and fluorescence in situ hybridization (FISH) studies revealed complex karyotype including rearrangement of MYC to a novel, non-IG partner on chromosome 18, and rearrangement of BCL2, BCL6 and IGH as well as ins(3)(q21q27...
April 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29623014/genetic-alterations-and-pik3ca-gene-mutations-and-amplifications-analysis-in-cervical-cancer-by-racial-groups-in-the-united-states
#6
Odekunle Florence Femi
Introduction: A number of studies indicated racial differences in cervical cancer outcomes and several factors are associated with it such as stage, comorbidities, treatment pattern, and socioeconomic status. However, the associations of tumor genomic patterns such as phosphatidylinositol 3-kinase catalytic subunit alpha (PIK3CA) gene mutations and amplifications with cervical cancer racial disparities are largely unexplored. Objectives: Therefore, the present investigation aimed to identify genetic alterations (mutations and copy number variations) in cervical cancer and determine whether the PIK3CA gene mutations and amplifications in cervical cancer differ across racial/ethnic groups in the United States...
January 2018: International Journal of Health Sciences
https://www.readbyqxmd.com/read/29603369/clinical-and-genetic-risk-factors-for-decreased-bone-mineral-density-in-japanese-patients-with-inflammatory-bowel-disease
#7
Takeo Naito, Naonobu Yokoyama, Yoichi Kakuta, Kazuko Ueno, Yosuke Kawai, Motoyuki Onodera, Rintaro Moroi, Masatake Kuroha, Yoshitake Kanazawa, Tomoya Kimura, Hisashi Shiga, Katsuya Endo, Masao Nagasaki, Atsushi Masamune, Yoshitaka Kinouchi, Tooru Shimosegawa
BACKGROUND AND AIM: Patients with inflammatory bowel disease (IBD) are at a high risk of low bone mineral density (BMD). Reportedly, clinical and genetic factors cause low BMD in Caucasians; however, studies in non-Caucasian populations remain scarce. METHODS: Clinical risk factors for low BMD were investigated in 266 Japanese patients with IBD, and a genome-wide association analysis (GWAS) was performed using linear regression with associated clinical factors as covariates...
March 30, 2018: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29572239/identification-of-novel-mecom-gene-fusion-and-personalized-therapeutic-targets-through-integrative-clinical-sequencing-in-secondary-acute-myeloid-leukemia-in-a-patient-with-severe-congenital-neutropenia-a-case-report-and-literature-review
#8
James A Connelly, Rajen J Mody, Yi-Mi Wu, Dan R Robinson, Robert J Lonigro, Pankaj Vats, Erica Rabban, Bailey Anderson, Kelly Walkovich
Severe congenital neutropenia (SCN) is a rare hematologic disorder characterized by defective myelopoiesis and a high incidence of malignant transformation to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). SCN patients who develop MDS/AML have excessive toxicities to traditional chemotherapy and safer therapies are needed to improve overall survival in this population. In this report, we outline the use of a prospective integrative clinical sequencing trial (PEDS-MIONCOSEQ) in a patient with SCN and AML to help identify oncogenic targets for less toxic agents...
March 23, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29540340/mecom-associated-syndrome-a-heterogeneous-inherited-bone-marrow-failure-syndrome-with-amegakaryocytic-thrombocytopenia
#9
Manuela Germeshausen, Phil Ancliff, Jaime Estrada, Markus Metzler, Eva Ponstingl, Horst Rütschle, Dirk Schwabe, Richard H Scott, Sule Unal, Angela Wawer, Bernward Zeller, Matthias Ballmaier
Heterozygous mutations in MECOM (MDS1 and EVI1 complex locus) have been reported to be causative of a rare association of congenital amegakaryocytic thrombocytopenia and radioulnar synostosis. Here we report on 12 patients with congenital hypomegakaryocytic thrombocytopenia caused by MECOM mutations (including 10 novel mutations). The mutations affected different functional domains of the EVI1 protein. The spectrum of phenotypes was much broader than initially reported for the first 3 patients; we found familial as well as sporadic cases, and the clinical spectrum ranged from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormality...
March 27, 2018: Blood Advances
https://www.readbyqxmd.com/read/29536689/-transcription-factors-analysis-of-subchondral-bone-in-early-experimental-osteoarthritis-based-on-gene-expression-profiles
#10
Rong-Kai Zhang, Guo-Wei Li, Dong Jiang, Da-Wei Zhang, Bing Yu, Lu-Kun Yang
OBJECTIVE: To identify the master transcription factors (TF) that might be responsible for the gene expression alteration of OA. METHODS: Raw expression data for rat OA model(GSE30322) was downloaded from NCBI GEO database. Microarray data analysis for rat and human was carried out separately using functions from limma packagein R, gene expression was considered as significantly changed between conditions if adjusted P -value<0.05 and the absolute value of fold change>=2...
February 25, 2018: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/29496554/congenital-hypoplastic-bone-marrow-failure-associated-with-a-de-novo-partial-deletion-of-the-mecom-gene-at-3q26-2
#11
Eigil Kjeldsen, Christopher Veigaard, Anni Aggerholm, Henrik Hasle
Congenital hypoplastic bone marrow failure is a rare condition in neonates. The genetics and mechanisms behind are largely obscure. Here we characterize a neonate presenting with congenital thrombocytopenia and anemia. During the first 2-4 weeks after birth the neonate developed severe neutropenia while the lymphoid lineages were unaffected. The neonate was without dysmorphic signs. A de novo mono-allelic constitutional microdeletion of 175.1 kb at 3q26.2 affecting exon 2 of MECOM, involving MDS1 but not EVI1, was identified as the only copy number alteration by oligo-based array-CGH analysis...
May 20, 2018: Gene
https://www.readbyqxmd.com/read/29439187/lethal-neonatal-bone-marrow-failure-syndrome-with-multiple-congenital-abnormalities-including-limb-defects-due-to-a-constitutional-deletion-of-3-mecom
#12
LETTER
Lars T van der Veken, Merel C Maiburg, Floris Groenendaal, Mariëlle E van Gijn, Andries C Bloem, Claudia Erpelinck, Stefan Gröschel, Mathijs A Sanders, Ruud Delwel, Marc B Bierings, Arjan Buijs
No abstract text is available yet for this article.
April 2018: Haematologica
https://www.readbyqxmd.com/read/29405993/molecular-approaches-identify-a-cryptic-mecom-rearrangement-in-a-child-with-a-rapidly-progressive-myeloid-neoplasm
#13
Roberto R Capela de Matos, Moneeb A K Othman, Gerson M Ferreira, Elaine S Costa, Joana B Melo, Isabel M Carreira, Mariana T de Souza, Bruno A Lopes, Mariana Emerenciano, Marcelo G P Land, Thomas Liehr, Raul C Ribeiro, Maria Luiza M Silva
Myeloid neoplasms are a heterogeneous group of hematologic disorders with divergent patterns of cell differentiation and proliferation, as well as divergent clinical courses. Rare recurrent genetic abnormalities related to this group of cancers are associated with poor outcomes. One such abnormality is the MECOM gene rearrangement that typically occurs in cases with chromosome 7 abnormalities. MECOM encodes a transcription factor that plays an essential role in cell proliferation and maintenance and also in epigenetic regulation...
February 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29290959/circulating-tumor-cells-potential-markers-of-minimal-residual-disease-in-ovarian-cancer-a-study-of-the-ovcad-consortium
#14
Eva Obermayr, Natalia Bednarz-Knoll, Beatrice Orsetti, Heinz-Ulrich Weier, Sandrina Lambrechts, Dan Cacsire Castillo-Tong, Alexander Reinthaller, Elena Ioana Braicu, Sven Mahner, Jalid Sehouli, Ignace Vergote, Charles Theillet, Robert Zeillinger, Burkhard Brandt
Purpose: In 75% of ovarian cancer patients the tumor mass is completely eradicated by established surgical and cytotoxic treatment; however, the majority of the tumors recur within 24 months. Here we investigated the role of circulating tumor cells (CTCs) indicating occult tumor load, which remains inaccessible by established diagnostics. Experimental design: Blood was taken at diagnosis (baseline samples, n = 102) and six months after completion of adjuvant first-line chemotherapy (follow-up samples; n = 78)...
December 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/29222283/hereditary-thrombocytopenias-a-growing-list-of-disorders
#15
REVIEW
Patrizia Noris, Alessandro Pecci
The introduction of high throughput sequencing (HTS) techniques greatly improved the knowledge of inherited thrombocytopenias (ITs) over the last few years. A total of 33 different forms caused by molecular defects affecting at least 32 genes have been identified; along with the discovery of new disease-causing genes, pathogenetic mechanisms of thrombocytopenia have been better elucidated. Although the clinical picture of ITs is heterogeneous, bleeding has been long considered the major clinical problem for patients with IT...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29209123/prediction-of-early-stage-hepatocellular-carcinoma-using-oncoscan-chromosomal-copy-number-aberration-data
#16
Ming-Chin Yu, Chao-Wei Lee, Yun-Shien Lee, Jang-Hau Lian, Chia-Lung Tsai, Yi-Ping Liu, Chun-Hsing Wu, Chi-Neu Tsai
AIM: To identify chromosomal copy number aberrations (CNAs) in early-stage hepatocellular carcinoma (HCC) and analyze whether they are correlated with patient prognosis. METHODS: One hundred and twenty patients with early-stage HCC were enrolled in our study, with the collection of formalin fixed, paraffin-embedded (FFPE) specimens and clinicopathological data. Tumor areas were marked by certified pathologists on a hematoxylin and eosin-stained slide, and cancer and adjacent non-cancerous tissues underwent extraction of DNA, which was analyzed with the Affymetrix OncoScan platform to assess CNAs and loss of heterozygosity (LOH)...
November 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29200407/a-mecom-variant-in-an-african-american-child-with-radioulnar-synostosis-and-thrombocytopenia
#17
Steven V Lord, Joaquin E Jimenez, Zachary A Kroeger, Cory S Patrick, Isalis Sanchez-Pena, Edward Ziga, Guney Bademci, Mustafa Tekin
No abstract text is available yet for this article.
January 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29146883/a-landscape-of-germ-line-mutations-in-a-cohort-of-inherited-bone-marrow-failure-patients
#18
Olivier Bluteau, Marie Sebert, Thierry Leblanc, Régis Peffault de Latour, Samuel Quentin, Elodie Lainey, Lucie Hernandez, Jean-Hugues Dalle, Flore Sicre de Fontbrune, Etienne Lengline, Raphael Itzykson, Emmanuelle Clappier, Nicolas Boissel, Nadia Vasquez, Mélanie Da Costa, Julien Masliah-Planchon, Wendy Cuccuini, Anna Raimbault, Louis De Jaegere, Lionel Adès, Pierre Fenaux, Sébastien Maury, Claudine Schmitt, Marc Muller, Carine Domenech, Nicolas Blin, Bénédicte Bruno, Isabelle Pellier, Mathilde Hunault, Stéphane Blanche, Arnaud Petit, Guy Leverger, Gérard Michel, Yves Bertrand, André Baruchel, Gérard Socié, Jean Soulier
Bone marrow (BM) failure (BMF) in children and young adults is often suspected to be inherited, but in many cases diagnosis remains uncertain. We studied a cohort of 179 patients (from 173 families) with BMF of suspected inherited origin but unresolved diagnosis after medical evaluation and Fanconi anemia exclusion. All patients had cytopenias, and 12.0% presented ≥5% BM blast cells. Median age at genetic evaluation was 11 years; 20.7% of patients were aged ≤2 years and 36.9% were ≥18 years. We analyzed genomic DNA from skin fibroblasts using whole-exome sequencing, and were able to assign a causal or likely causal germ line mutation in 86 patients (48...
February 15, 2018: Blood
https://www.readbyqxmd.com/read/29100304/germline-variations-at-jak2-tert-hbs1l-myb-and-mecom-and-the-risk-of-myeloproliferative-neoplasms-in-taiwanese-population
#19
Yi-Hao Chiang, Yu-Cheng Chang, Huan-Chau Lin, Ling Huang, Chun-Chia Cheng, Wei-Ting Wang, Hung-I Cheng, Nai-Wen Su, Caleb Gon-Shen Chen, Johnson Lin, Yi-Fang Chang, Ming-Chih Chang, Ruey-Kuen Hsieh, Wen-Chien Chou, Ken-Hong Lim, Yuan-Yeh Kuo
Germline variations at JAK2 , TERT , HBS1L - MYB and MECOM have been found to associate with myeloproliferative neoplasms (MPNs) in European populations. Whether these germline variations are associated with MPNs in Taiwanese population is obscure. Here we aimed to evaluate the association of five germline variations ( JAK2 46/1 haplotype tagged by rs12343867, JAK2 intron 8 rs12339666, TERT rs2736100, HBS1L - MYB rs9376092 and MECOM rs2201862) and the risk of MPNs in Taiwanese population. A total of 178 MPN patients (109 essential thrombocythemia, 54 polycythemia vera and 15 primary myelofibrosis) were enrolled into this study...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29097497/-mds1-and-evi1-complex-locus-mecom-a-novel-candidate-gene-for-hereditary-hematological-malignancies
#20
LETTER
Tim Ripperger, Winfried Hofmann, Jan C Koch, Katayoon Shirneshan, Detlef Haase, Gerald Wulf, Peter R Issing, Matthias Karnebogen, Gunnar Schmidt, Bernd Auber, Brigitte Schlegelberger, Thomas Illig, Birgit Zirn, Doris Steinemann
No abstract text is available yet for this article.
February 2018: Haematologica
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