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https://www.readbyqxmd.com/read/27913534/myelodysplastic-and-myeloproliferative-disorders-of-childhood
#1
Henrik Hasle
Myelodysplastic syndrome (MDS) and myeloproliferative disorders are rare in children; they are divided into low-grade MDS (refractory cytopenia of childhood [RCC]), advanced MDS (refractory anemia with excess blasts in transformation), and juvenile myelomonocytic leukemia (JMML), each with different characteristics and management strategies. Underlying genetic predisposition is recognized in an increasing number of patients. Germ line GATA2 mutation is found in 70% of adolescents with MDS and monosomy 7. It is challenging to distinguish RCC from aplastic anemia, inherited bone marrow failure, and reactive conditions...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913495/germ-line-mutations-associated-with-leukemias
#2
Christopher C Porter
Several genetic syndromes have long been associated with a predisposition to the development of leukemia, including bone marrow failure syndromes, Down syndrome, and Li Fraumeni syndrome. Recent work has better defined the leukemia risk and outcomes in these syndromes. Also, in the last several years, a number of other germ line mutations have been discovered to define new leukemia predisposition syndromes, including ANKRD26, GATA2, PAX5, ETV6, and DDX41 In addition, data suggest that a substantial proportion of patients with therapy related leukemias harbor germ line mutations in DNA damage response genes such as BRCA1/2 and TP53 Recognition of clinical associations, acquisition of a thorough family history, and high index-of-suspicion are critical in the diagnosis of these leukemia predisposition syndromes...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27899806/preleukemia-one-name-many-meanings
#3
REVIEW
H P Koeffler, G Leong
Definition of preleukemia has evolved. It was first used to describe the myelodysplastic syndrome (MDS) with a propensity to progress to acute myeloid leukemia (AML). Individuals with germline mutations of either RUNX1, CEBPA, or GATA2 can also be called as preleukemic because they have a markedly increased incidence of evolution into AML. Also, alkylating chemotherapy or radiation can cause MDS/preleukemia which nearly always progress to AML. More recently investigators noted that AML patients who achieved complete morphological remission after chemotherapy often have clonal hematopoiesis predominantly marked by either DNMT3A, TET2 or IDH1/2 mutations which were also present at diagnosis of AML...
November 30, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27899395/functional-definition-of-progenitors-versus-mature-endothelial-cells-reveals-key-soxf-dependent-differentiation-process
#4
Jatin Patel, Elke J Seppanen, Mathieu P Rodero, Ho Yi Wong, Prudence Donovan, Zoltan Neufeld, Nicholas M Fisk, Mathias François, Kiarash Khosrotehrani
BACKGROUND: -During adult life, blood vessel formation is thought to occur via angiogenic processes involving branching from existing vessels. An alternate proposal suggests that neo-vessels form from endothelial progenitors able to assemble the intimal layers. We here aimed to define vessel-resident endothelial progenitors in vivo in a variety of tissues in physiological and pathological situations such as normal aorta, lungs, as well as wound healing, tumors and placenta. METHODS: -Based on protein expression levels of common endothelial markers using flow cytometry, three sub-populations of endothelial cells could be identified among VE-Cadherin+ and CD45- cells...
November 29, 2016: Circulation
https://www.readbyqxmd.com/read/27896283/a-potential-founder-variant-in-carmil2-rltpr-in-three-norwegian-families-with-warts-molluscum-contagiosum-and-t-cell-dysfunction
#5
Hanne S Sorte, Liv T Osnes, Børre Fevang, Pål Aukrust, Hans C Erichsen, Paul H Backe, Tore G Abrahamsen, Ole B Kittang, Torstein Øverland, Shalini N Jhangiani, Donna M Muzny, Magnus D Vigeland, Pubudu Samarakoon, Tomasz Gambin, Zeynep H C Akdemir, Richard A Gibbs, Olaug K Rødningen, Robert Lyle, James R Lupski, Asbjørg Stray-Pedersen
BACKGROUND: Four patients from three Norwegian families presented with a common skin phenotype of warts, molluscum contagiosum, and dermatitis since early childhood, and various other immunological features. Warts are a common manifestation of human papilloma virus (HPV), but when they are overwhelming, disseminated and/or persistent, and presenting together with other immunological features, a primary immunodeficiency disease (PIDD) may be suspected. METHODS AND RESULTS: The four patients were exome sequenced as part of a larger study for detecting genetic causes of primary immunodeficiencies...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27894982/multiple-opportunistic-infections-in-a-woman-with-gata2-mutation
#6
Andrea Vila, Juan I Dapás, Cynthia V Rivero, Florencia Bocanegra, Roberto F Furnari, Amy P Hsu, Steven M Holland
GATA2 deficiency is a genetic disorder caused by inherited or sporadic haploinsufficient mutations in the GATA2 gene. Patients have abnormalities in hematopoiesis, lymphangiogenesis and immunity; encompassing a broad range of clinical syndromes, mainly characterized by monocytopenia, B and NK cell cytopenia, severe or recurrent infections, and a high risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).We report a case of an Argentinean woman, who presented with multiple opportunistic infections as her first manifestation of GATA2 deficiency...
November 25, 2016: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/27872477/the-role-of-gata2-in-lethal-prostate-cancer-aggressiveness
#7
REVIEW
Veronica Rodriguez-Bravo, Marc Carceles-Cordon, Yujin Hoshida, Carlos Cordon-Cardo, Matthew D Galsky, Josep Domingo-Domenech
Advanced prostate cancer is a classic example of the intractability and consequent lethality that characterizes metastatic carcinomas. Novel treatments have improved the survival of men with prostate cancer; however, advanced prostate cancer invariably becomes resistant to these therapies and ultimately progresses to a lethal metastatic stage. Consequently, detailed knowledge of the molecular mechanisms that control prostate cancer cell survival and progression towards this lethal stage of disease will benefit the development of new therapeutics...
November 22, 2016: Nature Reviews. Urology
https://www.readbyqxmd.com/read/27819178/myelodysplastic-syndromes-and-acute-leukemia-with-genetic-predispositions-a-new-challenge-for-hematologists
#8
Nicolas Duployez, Sophie Lejeune, Aline Renneville, Claude Preudhomme
The determination of an underlying genetic predisposition is not automatically part of the diagnosis of hematological malignancies (HM) in routine practice. However, it is assumed that genetic predispositions to HM are currently underestimated due to great variations in disease phenotype, variable latency and incomplete penetrance. Most of patients do not display any biological or clinical signs besides the overt hematological disease and many of them have a lack of personal or family history of malignancies...
December 2016: Expert Review of Hematology
https://www.readbyqxmd.com/read/27789623/gata2-and-gata3-regulate-the-differentiation-of-serotonergic-and-glutamatergic-neuron-subtypes-of-the-dorsal-raphe
#9
Maarja Haugas, Laura Tikker, Kaia Achim, Marjo Salminen, Juha Partanen
Serotonergic and glutamatergic neurons of the dorsal raphe regulate many brain functions and are important for mental health. Their functional diversity is based on molecularly distinct subtypes; however, the development of this heterogeneity is poorly understood. We show that the ventral neuroepithelium of mouse anterior hindbrain is divided into specific subdomains giving rise to serotonergic neurons as well as other types of neurons and glia. The newly born serotonergic precursors are segregated into distinct subpopulations expressing vesicular glutamate transporter 3 (Vglut3) or serotonin transporter (Sert)...
December 1, 2016: Development
https://www.readbyqxmd.com/read/27783953/a-gata2-dependent-transcription-network-regulates-uterine-progesterone-responsiveness-and-endometrial-function
#10
Cory A Rubel, San-Pin Wu, Lin Lin, Tianyuan Wang, Rainer B Lanz, Xilong Li, Ramakrishna Kommagani, Heather L Franco, Sally A Camper, Qiang Tong, Jae-Wook Jeong, John P Lydon, Francesco J DeMayo
Altered progesterone responsiveness leads to female infertility and cancer, but underlying mechanisms remain unclear. Mice with uterine-specific ablation of GATA binding protein 2 (Gata2) are infertile, showing failures in embryo implantation, endometrial decidualization, and uninhibited estrogen signaling. Gata2 deficiency results in reduced progesterone receptor (PGR) expression and attenuated progesterone signaling, as evidenced by genome-wide expression profiling and chromatin immunoprecipitation. GATA2 not only occupies at and promotes expression of the Pgr gene but also regulates downstream progesterone responsive genes in conjunction with the PGR...
October 25, 2016: Cell Reports
https://www.readbyqxmd.com/read/27780851/microrna-based-therapy-of-gata2-deficient-vascular-disease
#11
Dorothee Hartmann, Jan Fiedler, Kristina Sonnenschein, Annette Just, Angelika Pfanne, Karina Zimmer, Janet Remke, Ariana Foinquinos, Malte Butzlaff, Katharina Schimmel, Lars Maegdefessel, Denise Hilfiker-Kleiner, Nico Lachmann, Andreas Schober, Natali Froese, Joerg Heineke, Johann Bauersachs, Sandor Batkai, Thomas Thum
BACKGROUND: -The transcription factor GATA2 orchestrates the expression of many endothelial-specific genes illustrating its crucial importance for endothelial cell function. The capacity of this transcription factor in orchestrating endothelial important microRNAs (miRNAs/miR) is unknown. METHODS: -Endothelial GATA2 was functionally analyzed in human endothelial cells in vitro. Endogenous siRNA-mediated knockdown and lentiviral-based overexpression were applied to decipher capacity of GATA2 in regulating cell viability and capillary formation...
October 25, 2016: Circulation
https://www.readbyqxmd.com/read/27765362/medicinal-herbs-oenanthe-javanica-blume-dc-casuarina-equisetifolia-l-and-sorghum-bicolor-l-moench-protect-human-cells-from-mpp-damage-via-inducing-fbxo7-expression
#12
Chiung-Mei Chen, I-Cheng Chen, Ying-Lin Chen, Te-Hsien Lin, Wan-Ling Chen, Chih-Ying Chao, Yih-Ru Wu, Yeah-Ting Lu, Cheng-Yu Lee, Hong-Chi Chien, Ting-Shou Chen, Guey-Jen Lee-Chen, Chi-Mei Lee
BACKGROUND: The F-box protein 7 (FBXO7) mutations have been identified in families with early-onset parkinsonism and pyramidal tract signs, and designated as PARK15. In addition, FBXO7 mutations were found in typical and young onset Parkinson's disease (PD). Evidence has also shown that FBXO7 plays an important role in the development of dopaminergic neurons and increased stability and overexpression of FBXO7 may be beneficial to PD. PURPOSE: We screened extracts of medicinal herbs to enhance FBXO7 expression for neuroprotection in MPP(+)-treated cells...
November 15, 2016: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
https://www.readbyqxmd.com/read/27755182/dendritic-cell-analysis-in-primary-immunodeficiency
#13
Venetia Bigley, Dawn Barge, Matthew Collin
PURPOSE OF REVIEW: Dendritic cells are specialized antigen-presenting cells which link innate and adaptive immunity, through recognition and presentation of antigen to T cells. Although the importance of dendritic cells has been demonstrated in many animal models, their contribution to human immunity remains relatively unexplored in vivo.Given their central role in infection, autoimmunity, and malignancy, dendritic cell deficiency or dysfunction would be expected to have clinical consequences...
December 2016: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27746115/generation-and-analysis-of-gata2-w-egfp-human-escs-reveal-itgb3-cd61-as-a-reliable-marker-for-defining-hemogenic-endothelial-cells-during-hematopoiesis
#14
Ke Huang, Jiao Gao, Juan Du, Ning Ma, Yanling Zhu, Pengfei Wu, Tian Zhang, Wenqian Wang, Yuhang Li, Qianyu Chen, Andrew Paul Hutchins, Zhongzhou Yang, Yi Zheng, Jian Zhang, Yongli Shan, Xuejia Li, Baojian Liao, Jiajun Liu, Jinyong Wang, Bing Liu, Guangjin Pan
The transition from hemogenic endothelial cells (HECs) to hematopoietic stem/progenitor cells (HS/PCs), or endothelial to hematopoietic transition (EHT), is a critical step during hematopoiesis. However, little is known about the molecular determinants of HECs due to the challenge in defining HECs. We report here the generation of GATA2(w/eGFP) reporter in human embryonic stem cells (hESCs) to mark cells expressing GATA2, a critical gene for EHT. We show that during differentiation, functional HECs are almost exclusively GATA2/eGFP(+)...
November 8, 2016: Stem Cell Reports
https://www.readbyqxmd.com/read/27709831/gata-binding-protein-3-is-correlated-with-leptin-regulation-of-ppar%C3%AE-1-in-hepatic-stellate-cells
#15
Wei Guan, Fangyun Cheng, Hao Wu, Qing Cao, Xiaofei Zhu, Yan Fan, Huixia Zhu, Yajun Zhou
Accumulating evidence reveals that hormone leptin, mainly produced by adipocyte, plays a unique role in promotion of liver fibrosis. Hepatic stellate cell (HSC) activation is a key step in liver fibrosis and peroxisome-proliferator activated receptor γ (PPARγ) exerts a crucial role in inhibition of HSC activation. Our previous researches demonstrated that leptin reduced PPARγ1 (a major subtype of PPARγ in HSCs) expression through GATA binding protein 2 (GATA2) binding to a site around -2323 in PPARγ1 promoter...
October 6, 2016: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/27693352/enhancer-variants-synergistically-drive-dysfunction-of-a-gene-regulatory-network-in-hirschsprung-disease
#16
Sumantra Chatterjee, Ashish Kapoor, Jennifer A Akiyama, Dallas R Auer, Dongwon Lee, Stacey Gabriel, Courtney Berrios, Len A Pennacchio, Aravinda Chakravarti
Common sequence variants in cis-regulatory elements (CREs) are suspected etiological causes of complex disorders. We previously identified an intronic enhancer variant in the RET gene disrupting SOX10 binding and increasing Hirschsprung disease (HSCR) risk 4-fold. We now show that two other functionally independent CRE variants, one binding Gata2 and the other binding Rarb, also reduce Ret expression and increase risk 2- and 1.7-fold. By studying human and mouse fetal gut tissues and cell lines, we demonstrate that reduced RET expression propagates throughout its gene regulatory network, exerting effects on both its positive and negative feedback components...
October 6, 2016: Cell
https://www.readbyqxmd.com/read/27680514/mutational-profiling-of-a-monomac-syndrome-family-with-gata2-deficiency
#17
L-W Ding, T Ikezoe, K-T Tan, M Mori, A Mayakonda, W Chien, D-C Lin, Y-Y Jiang, M Lill, H Yang, Q-Y Sun, H P Koeffler
No abstract text is available yet for this article.
October 21, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27633996/tril-targets-smad7-for-degradation-to-allow-for-hematopoietic-specification-in-xenopus-embryos
#18
Yangsook Song Green, Sunjong Kwon, Mizuho S Mimoto, Yuanyuan Xie, Jan L Christian
In Xenopus laevis, Bone morphogenetic proteins induce expression of the transcription factor Gata2 during gastrulation, and Gata2 is required in both ectodermal and mesodermal cells to enable mesoderm to commit to a hematopoietic fate. In the current studies, we identify tril as a Gata2 target gene that is required in both ectoderm and mesoderm for primitive hematopoiesis to occur. Tril is a transmembrane protein that functions as a co-receptor for Toll like receptors to mediate innate immune responses in the adult brain, but developmental roles for this molecule have not been identified...
September 15, 2016: Development
https://www.readbyqxmd.com/read/27628325/the-new-clinicopathologic-and-molecular-findings-in-myeloid-neoplasms-with-inv-3-q21q26-t-3-3-q21-q26-2
#19
Huan-You Wang, Hooman H Rashidi
CONTEXT: - Inv(3)(q21q26)/t(3;3)(q21;q26.2) is the most common form of genetic abnormality of the so-called 3q21q26 syndrome. Myeloid neoplasms with 3q21q26 aberrancies include acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and blast crisis of myeloproliferative neoplasms. Recent advances on myeloid neoplasms with inv(3)/t(3;3) with regard to clinicopathologic features and novel molecular or genomic findings warrant a comprehensive review on this topic. OBJECTIVE: - To review the clinicopathologic features and molecular as well as genomic alterations in myeloid neoplasms with inv(3)/t(3;3)...
December 2016: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/27625068/characterization-of-human-mitochondrial-ferritin-promoter-identification-of-transcription-factors-and-evidences-of-epigenetic-control
#20
Michela Guaraldo, Paolo Santambrogio, Elisabetta Rovelli, Augusta Di Savino, Giuseppe Saglio, Davide Cittaro, Antonella Roetto, Sonia Levi
Mitochondrial ferritin (FtMt) is an iron storage protein belonging to the ferritin family but, unlike the cytosolic ferritin, it has an iron-unrelated restricted tissue expression. FtMt appears to be preferentially expressed in cell types characterized by high metabolic activity and oxygen consumption, suggesting a role in protecting mitochondria from iron-dependent oxidative damage. The human gene (FTMT) is intronless and its promoter region has not been described yet. To analyze the regulatory mechanisms controlling FTMT expression, we characterized the 5' flanking region upstream the transcriptional starting site of FTMT by in silico enquiry of sequences conservation, DNA deletion analysis, and ChIP assay...
2016: Scientific Reports
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