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https://www.readbyqxmd.com/read/28526138/gata-factors-master-regulators-of-gene-expression-in-trophoblast-progenitors
#1
Soumen Paul, Pratik Home, Bhaswati Bhattacharya, Soma Ray
Mammalian reproduction is critically dependent on trophoblast cells, which ensure embryo implantation and placentation. Development of trophoblast cell lineages is a multi-step process and relies upon proper spatial and temporal gene expression, which is regulated by multiple transcription factors. However, most of the transcription factors that are implicated in trophoblast development regulate gene expression at a specific developmental stage or in a specific trophoblast subtype. In contrast, recent studies from our group and other laboratories indicate that conserved GATA family of transcription factors, GATA2 and GATA3, are important to regulate gene expression at multiple stages of trophoblast development...
May 10, 2017: Placenta
https://www.readbyqxmd.com/read/28512628/dysplasia-of-granulocytes-in-a-patient-with-hpv-disease-recurrent-infections-and-b-lymphopenia-a-novel-variant-of-whim-syndrome
#2
Giusella M F Moscato, Erica Giacobbi, Lucia Anemona, Silvia Di Cesare, Gigliola Di Matteo, Massimo Andreoni, Alessandro Mauriello, Viviana Moschese
WHIM syndrome is a condition in which affected persons have chronic peripheral neutropenia, lymphopenia, abnormal susceptibility to human papilloma virus infection, and myelokathexis. Myelokathexis refers to the retention of mature neutrophils in the bone marrow (BM), which accounts for degenerative changes and hypersegmentation. Most patients present heterozygous autosomal dominant mutations of the gene encoding CXCR4. Consequently, aberrant CXCL12/CXCR4 signaling impairs the receptor downregulation causing hyperactivation (gain-of-function) that affects BM homing for myelopoiesis and lymphopoiesis and the release of neutrophils in the bloodstream...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28486040/gata2-expression-and-biochemical-recurrence-following-salvage-radiation-therapy-for-relapsing-prostate-cancer
#3
Jessica L Robinson, Katherine S Tzou, Alexander S Parker, Michael G Heckman, Kevin J Wu, Tracy W Hilton, Thomas M Pisansky, Steven E Schild, Jennifer L Peterson, Laura A Vallow, Steven J Buskirk
OBJECTIVES: High GATA2 expression has been associated with an increased risk of poor clinical outcomes after radical prostatectomy (RP), however has not been studied in relation to risk of biochemical recurrence (BCR) after salvage radiation therapy (SRT) for recurrent prostate cancer after RP. Our aim was to evaluate the association between protein expression levels of GATA2 in primary prostate cancer tumor samples and risk of BCR after SRT. METHODS: 109 men who were treated with SRT were included...
May 9, 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28464229/functional-characterization-of-the-neuron-restrictive-silencer-element-in-the-human-tryptophan-hydroxylase-2-gene-expression
#4
Yukino Nawa, Hanae Kaneko, Masayuki Oda, Masaaki Tsubonoya, Tomoko Hiroi, Maria Teresa Gentile, Luca Colucci-D'Amato, Ryoya Takahashi, Hiroaki Matsui
Tryptophan hydroxylase 2 (TPH2) is the key enzyme in the synthesis of neuronal serotonin. Although previous studies suggest that TPH2 NRSE (neuron-restrictive silencer element) functions as a negative regulator dependent on NRSF (neuron-restrictive silencer factor) activity, the underlying mechanisms are yet to be fully elucidated. Here, we show a detailed analysis of the NRSE-mediated repression of the human TPH2 (hTPH2) promoter activity in RN46A cells, a cell line derived from rat raphe neurons. Quantitative real-time RT-PCR analysis revealed the expression of serotonergic marker genes (Mash1, Nkx2...
May 2, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28459701/mecom-evi1-rearrangements-a-review-and-case-report-of-two-mds-patients-with-complex-3q-inversion-deletions
#5
Helen Lawce, Elina Szabo, Yumi Torimaru, Craig Davis, Karin Osterberg, Susan Olson, Steve Moore
Acute myelogeneous leukemia (AML) with inv(3)/t(3;3)(q13q25) is associated with aberrant expression of the stem-cell regulator MECOM (aka EVI1). Two bone marrow samples received in the OHSU Knight Diagnostic Laboratories (KDL) Cytogenetics Laboratory for chromosomes and FISH for a question of progression of myelodysplastic syndrome (MDS) to AML showed complex abnormalities including a deletion of chromosome 3q, one with del(3)(q13q25) and the other with del(3)(q22q25). In light of the prognostic importance of the activation of the MECOM oncogene and the concurrent inactivation of the GATA2 tumor suppressor that occurs with the classic inversion of chromosome 3q, fluorescence in situ hybridization (FISH) was performed using two different probe designs to better define the 3q deletions in the two cases...
2017: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/28440875/skin-manifestations-among-gata2-deficient-patients
#6
A Polat, M Dinulescu, S Fraitag, S Nimubona, F Toutain, S Jouneau, E Poullot, C Droitcourt, A Dupuy
GATA2 mutations have been identified in various diseases, such as monoMAC syndrome, Emberger syndrome, familial myelodysplastic syndrome, acute myeloid leukemia, and dendritic cell, monocyte, B and NK cell deficiency. These syndromes present a wide range of clinical features, dominated by severe infections and haematological disorders such as myelodysplastic syndrome. Up to 70% of GATA2-mutated patients have dermatological features, mainly genital or extra-genital warts, panniculitis or erythema nodosum, and lymphedema...
April 25, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28381408/rare-genetic-variants-in-gata-transcription-factors-in-patients-with-hypertrophic-cardiomyopathy
#7
Cristina Alonso-Montes, Julián Rodríguez-Reguero, María Martín, Juan Gómez, Eliecer Coto, Manuel Naves-Díaz, César Morís, Jorge B Cannata-Andía, Isabel Rodríguez
Hypertrophic cardiomyopathy (HCM) is a very heterogeneous disease. Although primarily caused by mutations in genes encoding sarcomeric proteins, other genes might explain that heterogeneity. Potential candidate genes are GATA transcription factors that regulate the expression of proteins associated with HCM. Exons of GATA2, GATA4, and GATA6 genes were sequenced in 212 patients with unrelated HCM previously analyzed for genes encoding the most frequently mutated sarcomeric proteins. Functional effects of variants were predicted by in silico analyses...
April 5, 2017: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
https://www.readbyqxmd.com/read/28373026/wild-syndrome-is-gata2-deficiency-a-novel-deletion-in-the-gata2-gene
#8
Joshua M Dorn, Mrinal S Patnaik, Michelle Van Hee, Matthew J Smith, Susan A Lagerstedt, Catherine C Newman, Thomas G Boyce, Roshini S Abraham
No abstract text is available yet for this article.
March 31, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28367417/lovastatin-reduces-stemness-via-epigenetic-reprograming-of-bmp2-and-gata2-in-human-endometrium-and-endometriosis
#9
Mahdieh Taghizadeh, Mehrdad Noruzinia
OBJECTIVE: The stem cell theory in the endometriosis provides an advanced avenue of targeting these cells as a novel therapy to eliminate endometriosis. In this regard, studies showed that lovastatin alters the cells from a stem-like state to more differentiated condition and reduces stemness. The aim of this study was to investigate whether lovastatin treatment could influence expression and methylation patterns of genes regulating differentiation of endometrial mesenchymal stem cells (eMSCs) such as BMP2, GATA2 and RUNX2 as well as eMSCs markers...
April 2017: Cell Journal
https://www.readbyqxmd.com/read/28357685/familial-acute-myeloid-leukemia-and-myelodysplasia-in-hungary
#10
Attila Péter Király, Krisztián Kállay, Ambrus Gángó, Ádám Kellner, Miklós Egyed, Anita Szőke, Richárd Kiss, István Vályi-Nagy, Judit Csomor, András Matolcsy, Csaba Bödör
Although genetic predisposition to haematological malignancies has long been known, genetic testing is not yet the part of the routine diagnostics. In the last ten years, next generation sequencing based studies identified novel germline mutations in the background of familial aggregation of certain haematologic disorders including myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML). This is supported by the fact that the myeloid neoplasms with genetic predisposition represent a new category in the revised 2016 World Health Organization classification...
March 29, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28350881/correction-gata2-inhibition-sensitizes-acute-myeloid-leukemia-cells-to-chemotherapy
#11
Li Yang, Hanxiao Sun, Yanan Cao, Binbin Xuan, Yingchao Fan, Huiming Sheng, Wenfang Zhuang
[This corrects the article DOI: 10.1371/journal.pone.0170630.].
2017: PloS One
https://www.readbyqxmd.com/read/28334937/dynamically-and-epigenetically-coordinated-gata-ets-sox-transcription-factor-expression-is-indispensable-for-endothelial-cell-differentiation
#12
Yasuharu Kanki, Ryo Nakaki, Teppei Shimamura, Taichi Matsunaga, Kohei Yamamizu, Shiori Katayama, Jun-Ichi Suehiro, Tsuyoshi Osawa, Hiroyuki Aburatani, Tatsuhiko Kodama, Youichiro Wada, Jun K Yamashita, Takashi Minami
Although studies of the differentiation from mouse embryonic stem (ES) cells to vascular endothelial cells (ECs) provide an excellent model for investigating the molecular mechanisms underlying vascular development, temporal dynamics of gene expression and chromatin modifications have not been well studied. Herein, using transcriptomic and epigenomic analyses based on H3K4me3 and H3K27me3 modifications at a genome-wide scale, we analysed the EC differentiation steps from ES cells and crucial epigenetic modifications unique to ECs...
May 5, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28315013/protective-vaccination-and-blood-stage-malaria-modify-dna-methylation-of-gene-promoters-in-the-liver-of-balb-c-mice
#13
Saleh Al-Quraishy, Mohamed A Dkhil, Abdel-Azeem S Abdel-Baki, Foued Ghanjati, Lars Erichsen, Simeon Santourlidis, Frank Wunderlich, Marcos J Araúzo-Bravo
Epigenetic mechanisms such as DNA methylation are increasingly recognized to be critical for vaccination efficacy and outcome of different infectious diseases, but corresponding information is scarcely available for host defense against malaria. In the experimental blood-stage malaria Plasmodium chabaudi, we investigate the possible effects of a blood-stage vaccine on DNA methylation of gene promoters in the liver, known as effector against blood-stage malaria, using DNA methylation microarrays. Naturally susceptible Balb/c mice acquire, by protective vaccination, the potency to survive P...
March 18, 2017: Parasitology Research
https://www.readbyqxmd.com/read/28299656/roles-of-the-runx1-enhancer-in-normal-hematopoiesis-and-leukemogenesis
#14
Wei-Siang Liau, Phuong Cao Thi Ngoc, Takaomi Sanda
Enhancers are regulatory elements in genomic DNA that contain specific sequence motifs that are bound by DNA-binding transcription factors. The activity of enhancers is tightly regulated in an integrated and combinatorial manner, thus yielding complex patterns of transcription in different tissues. Identifying enhancers is crucial to understanding the physiological and pathogenic roles of their target genes. The RUNX1 intronic enhancer, eR1, acts in cis to regulate RUNX1 gene expression in hematopoietic stem cells (HSCs) and hemogenic endothelial cells...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28280925/a-soxc-gene-related-to-larval-shell-development-and-co-expression-analysis-of-different-shell-formation-genes-in-early-larvae-of-oyster
#15
Gang Liu, Pin Huan, Baozhong Liu
Among the potential larval shell formation genes in mollusks, most are expressed in cells surrounding the shell field during the early phase of shell formation. The only exception (cgi-tyr1) is expressed in the whole larval mantle and thus represents a novel type of expression pattern. This study reports another gene with such an expression pattern. The gene encoded a SoxC homolog of the Pacific oyster Crassostrea gigas and was named cgi-soxc. Whole-mount in situ hybridization revealed that the gene was highly expressed in the whole larval mantle of early larvae...
March 9, 2017: Development Genes and Evolution
https://www.readbyqxmd.com/read/28271814/gata2-null-mutation-associated-with-incomplete-penetrance-in-a-family-with-emberger-syndrome
#16
Aniel Jessica Leticia Brambila-Tapia, José Elías García-Ortiz, Pascal Brouillard, Ha-Long Nguyen, Miikka Vikkula, Blanca Estela Ríos-González, Roberto de Jesús Sandoval-Muñiz, Ana Karen Sandoval-Talamantes, Lucina Bobadilla-Morales, Jorge Román Corona-Rivera, Lisette Arnaud-Lopez
INTRODUCTION: GATA2 mutations are associated with several conditions, including Emberger syndrome which is the association of primary lymphedema with hematological anomalies and an increased risk for myelodysplasia and leukemia. OBJECTIVE: To describe a family with Emberger syndrome with incomplete penetrance. METHODS: A DNA sequencing of GATA2 gene was performed in the parents and offspring (five individuals in total). RESULTS: The family consisted of 5 individuals with a GATA2 null mutation (c...
March 8, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28264478/crosstalk-of-the-androgen-receptor-with-transcriptional-collaborators-potential-therapeutic-targets-for-castration-resistant-prostate-cancer
#17
REVIEW
Daisuke Obinata, Kenichi Takayama, Satoru Takahashi, Satoshi Inoue
Prostate cancer is the second leading cause of death from cancer among males in Western countries. It is also the most commonly diagnosed male cancer in Japan. The progression of prostate cancer is mainly influenced by androgens and the androgen receptor (AR). Androgen deprivation therapy is an established therapy for advanced prostate cancer; however, prostate cancers frequently develop resistance to low testosterone levels and progress to the fatal stage called castration-resistant prostate cancer (CRPC)...
February 28, 2017: Cancers
https://www.readbyqxmd.com/read/28259234/primary-lymphedema-and-viral-warts-in-gata2-haploinsufficiency
#18
Juliana Perez Botero, Vilmarie Rodriguez
No abstract text is available yet for this article.
March 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28248742/central-retinal-vein-occlusion-in-gata2-deficiency
#19
Duncan Berry, Sharon Fekrat
PURPOSE: To examine the association between GATA2 deficiency-related myelodysplastic syndrome (MDS) and central retinal vein occlusion (CRVO). METHODS: Clinical ophthalmologic examination and laboratory work-up was performed for a patient with GATA2 deficiency-related MDS who experienced a unilateral CRVO. The literature was reviewed for reports of CRVO in the setting of MDS and allogeneic hematopoietic stem cell transplantation. RESULTS: Ophthalmologic examination revealed findings consistent with unilateral CRVO...
February 28, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28209719/adaptive-nk-cells-can-persist-in-patients-with-gata2-mutation-depleted-of-stem-and-progenitor-cells
#20
Heinrich Schlums, Moonjung Jung, Hongya Han, Jakob Theorell, Venetia Bigley, Samuel C C Chiang, David S J Allan, Jan K Davidson-Moncada, Rachel E Dickinson, Tim D Holmes, Amy P Hsu, Danielle Townsley, Thomas Winkler, Weixin Wang, Pål Aukrust, Ingvild Nordøy, Katherine R Calvo, Steve M Holland, Matthew Collin, Cynthia E Dunbar, Yenan T Bryceson
Heterozygous GATA2 mutation is associated with immunodeficiency, lymphedema, and myelodysplastic syndrome. Disease presentation is variable, often coinciding with loss of circulating dendritic cells, monocytes, B cells, and natural killer (NK) cells. Nonetheless, in a proportion of patients carrying GATA2 mutation, NK cells persist. We found that peripheral blood NK cells in symptomatic patients uniformly lacked expression of the transcription factor promyelocytic leukemia zinc finger (PLZF), as well as expression of intracellular signaling proteins FcεRγ, spleen tyrosine kinase (SYK), and EWS/FLI1-Activated Transcript 2 (EAT-2) in a variegated manner...
April 6, 2017: Blood
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