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https://www.readbyqxmd.com/read/29773646/a-blood-capillary-plexus-derived-population-of-progenitor-cells-contributes-to-genesis-of-the-dermal-lymphatic-vasculature-during-embryonic-development
#1
Cathy Pichol-Thievend, Kelly L Betterman, Xiaolei Liu, Wanshu Ma, Renae Skoczylas, Emmanuelle Lesieur, Frank L Bos, Dorte Schulte, Stefan Schulte-Merker, Benjamin M Hogan, Guillermo Oliver, Natasha L Harvey, Mathias Francois
Despite the essential role of the lymphatic vasculature in tissue homeostasis and disease, knowledge of the organ-specific origins of lymphatic endothelial progenitor cells remains limited. The assumption that most murine embryonic lymphatic endothelial cells (LECs) are venous derived has recently been challenged. Here, we show that the embryonic dermal blood capillary plexus constitutes an additional, local source of LECs that contributes to the formation of the dermal lymphatic vascular network. We describe a novel mechanism whereby rare PROX1-positive endothelial cells exit the capillary plexus in a Ccbe1 -dependent manner to establish discrete LEC clusters...
May 17, 2018: Development
https://www.readbyqxmd.com/read/29760808/piasy-antagonizes-ras-driven-nsclc-survival-by-promoting-gata2-sumoylation
#2
Bin Chen, Jie Luo, Yirui Zhou, Xu Xin, Rong Cai, Chunhua Ling
GATA2 regulated transcriptional network has been validated requisite for RAS oncogene-driven non-small cell lung cancer (NSCLC). GATA2 has been reported as a SUMOylated protein. In endothelial cells, its transcriptional activity is attenuated by SUMO-2 conjugation, which is specifically catalyzed by its E3 ligase PIASy. In this study, we found a decreased expression of PIASy in RAS mutant NSCLC cell lines and specimens with RAS mutations. Forced expression of PIASy in NSCLC cells inhibits their viability in vitro , as well as tumorigenesis and growth in vivo ...
2018: Journal of Cancer
https://www.readbyqxmd.com/read/29749400/gata2-monoallelic-expression-underlies-reduced-penetrance-in-inherited-gata2-mutated-mds-aml
#3
Ahad F Al Seraihi, Ana Rio-Machin, Kiran Tawana, Csaba Bödör, Jun Wang, Ai Nagano, James A Heward, Sameena Iqbal, Steven Best, Nicholas Lea, Donal McLornan, Emilia J Kozyra, Marcin W Wlodarski, Charlotte M Niemeyer, Hamish Scott, Chris Hahn, Alicia Ellison, Hemanth Tummala, Shirleny Romualdo Cardoso, Tom Vulliamy, Inderjeet Dokal, Tom Butler, Matthew Smith, Jamie Cavenagh, Jude Fitzgibbon
No abstract text is available yet for this article.
April 19, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29741776/skewed-megakaryopoiesis-in-human-induced-pluripotent-stem-cell-derived-haematopoietic-progenitor-cells-harbouring-calreticulin-mutations
#4
Hiraku Takei, Yoko Edahiro, Shuichi Mano, Nami Masubuchi, Yoshihisa Mizukami, Misa Imai, Soji Morishita, Kyohei Misawa, Tomonori Ochiai, Satoshi Tsuneda, Hiroshi Endo, Sou Nakamura, Koji Eto, Akimichi Ohsaka, Marito Araki, Norio Komatsu
Somatic mutations in the calreticulin (CALR) gene have been found in most patients with JAK2- and MPL-unmutated Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs). It has recently been shown that mutant CALR constitutively activates the thrombopoietin receptor MPL and, thus, plays a causal role in the development of MPNs. However, the roles of mutant CALR in human haematopoietic cell differentiation remain predominantly elusive. To examine the impact of the 5-base insertion mutant CALR gene (Ins5) on haematopoietic cell differentiation, we generated induced pluripotent stem cells from an essential thrombocythaemia (ET) patient harbouring a CALR-Ins5 mutation and from a healthy individual (WT)...
May 9, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29730780/toward-deciphering-the-mechanistic-role-of-variations-in-the-rep1-repeat-site-in-the-transcription-regulation-of-snca-gene
#5
A Afek, L Tagliafierro, O C Glenn, D B Lukatsky, R Gordan, O Chiba-Falek
Short structural variants-variants other than single nucleotide polymorphisms-are hypothesized to contribute to many complex diseases, possibly by modulating gene expression. However, the molecular mechanisms by which noncoding short structural variants exert their effects on gene regulation have not been discovered. Here, we study simple sequence repeats (SSRs), a common class of short structural variants. Previously, we showed that repetitive sequences can directly influence the binding of transcription factors to their proximate recognition sites, a mechanism we termed non-consensus binding...
May 5, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29724903/natural-history-of-gata2-deficiency-in-a-survey-of-79-french-and-belgian-patients
#6
Jean Donadieu, Marie Lamant, Claire Fieschi, Flore Sicre de Fontbrune, Aurélie Caye, Marie Ouachee, Blandine Beaupain, Jacinta Bustamante, Hélène A Poirel, Bertrand Isidor, Eric Van Den Neste, Antoine Neel, Stanislas Nimubona, Fabienne Toutain, Vincent Barlogis, Nicolas Schleinitz, Thierry Leblanc, Pierre Rohrlich, Felipe Suarez, Dana Ranta, Wahid Abou Chahla, Bénédicte Bruno, Louis Terriou, Sylvie Francois, Bruno Lioure, Guido Ahle, Françoise Bachelerie, Claude Preudhomme, Eric Delabesse, Hélène Cavé, Christine Bellanné-Chantelot, Marlène Pasquet
Heterozygous germline GATA2 mutations strongly predispose to leukaemia, immunodeficiency, and/or lymphoedema. We now describe a series of 79 patients (53 families) diagnosed since 2011, compiling all patients in France and Belgium, with a follow up of 2249 patients/years. Median age at first clinical symptoms was 18.6 years (range, 0-61 years). Severe infectious diseases (mycobacteria, fungus, and human papilloma virus) and haematological malignancies were the most common first manifestations. The probability of remaining symptom-free was 8% at 40 years old...
May 3, 2018: Haematologica
https://www.readbyqxmd.com/read/29713515/the-role-of-tal1-in-hematopoiesis-and-leukemogenesis
#7
E R Vagapova, P V Spirin, T D Lebedev, V S Prassolov
TAL1 (SCL/TAL1, T-cell acute leukemia protein 1) is a transcription factor that is involved in the process of hematopoiesis and leukemogenesis. It participates in blood cell formation, forms mesoderm in early embryogenesis, and regulates hematopoiesis in adult organisms. TAL1 is essential in maintaining the multipotency of hematopoietic stem cells (HSC) and keeping them in quiescence (stage G0). TAL1 forms complexes with various transcription factors, regulating hematopoiesis (E2A/HEB, GATA1-3, LMO1-2, Ldb1, ETO2 , RUNX1, ERG, FLI1)...
January 2018: Acta Naturae
https://www.readbyqxmd.com/read/29680795/monomac-syndrome-with-associated-neurological-deficits-and-longitudinally-extensive-cord-lesion
#8
Mastura Monif, Aamira Huq, Lynette Chee, Trevor Kilpatrick
We present a case of monocytopaenia and mycobacteria-related infection (MonoMac) syndrome in a 30-year-old man of Indian origin. The clinical diagnosis of GATA2 haploinsufficiency was suspected after an unusual neurological presentation on a background of myelodysplastic syndrome and childhood pulmonary tuberculosis. The patient had a longitudinally extensive spinal cord lesion and a lesion in the medulla. No obvious infective cause for the spinal cord MRI abnormality was found, and the lesions were presumed to be inflammatory in nature...
April 21, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29669757/can-somatic-gata2-mutation-mimic-germ-line-gata2-mutation
#9
Mallika Sekhar, Rachael Pocock, David Lowe, Christopher Mitchell, Teresa Marafioti, Rachel Dickinson, Matthew Collin, Marc Lipman
No abstract text is available yet for this article.
April 24, 2018: Blood Advances
https://www.readbyqxmd.com/read/29666442/matrix-stiffness-controls-lymphatic-vessel-formation-through-regulation-of-a-gata2-dependent-transcriptional-program
#10
Maike Frye, Andrea Taddei, Cathrin Dierkes, Ines Martinez-Corral, Matthew Fielden, Henrik Ortsäter, Jan Kazenwadel, Dinis P Calado, Pia Ostergaard, Marjo Salminen, Liqun He, Natasha L Harvey, Friedemann Kiefer, Taija Mäkinen
Tissue and vessel wall stiffening alters endothelial cell properties and contributes to vascular dysfunction. However, whether extracellular matrix (ECM) stiffness impacts vascular development is not known. Here we show that matrix stiffness controls lymphatic vascular morphogenesis. Atomic force microscopy measurements in mouse embryos reveal that venous lymphatic endothelial cell (LEC) progenitors experience a decrease in substrate stiffness upon migration out of the cardinal vein, which induces a GATA2-dependent transcriptional program required to form the first lymphatic vessels...
April 17, 2018: Nature Communications
https://www.readbyqxmd.com/read/29661794/reciprocal-regulation-of-tead4-and-ccn2-for-the-trophectoderm-development-of-the-bovine-blastocyst
#11
Hiroki Akizawa, Ken Kobayashi, Hanako Bai, Masashi Takahashi, Shinjiro Kagawa, Hiroaki Nagatomo, Manabu Kawahara
The first segregation at the blastocyst stage is the symmetry-breaking event to characterize two cell components; namely, inner cell mass (ICM) and trophectoderm (TE). TEA domain transcription factor 4 (TEAD4) is a well-known regulator to determine TE properties of blastomeres in rodent models. However, the roles of bovine TEAD4 in blastocyst development have been unclear. We here aimed to clarify the mechanisms underlining TE characterization by TEAD4 in bovine blastocysts. We first found that the TEAD4 mRNA expression level was greater in TE than in ICM, which was further supported by TEAD4 immunofluorescent staining...
April 16, 2018: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/29620682/gata2-deficiency-due-to-de-novo-complete-monoallelic-deletion-in-an-adolescent-with-myelodysplasia
#12
Donald C Vinh, Laura Palma, John Storring, William D Foulkes
GATA2 deficiency is an inherited bone marrow failure syndrome that can manifest with myelodysplasia (myelodysplastic syndrome) with chromosomal aberrations and high risk of evolution to leukemia (particularly, acute myeloid leukemia); immunodeficiency with opportunistic infections; and/or lymphedema. It can be transmitted in families in autosomal-dominant fashion, or present de novo as sporadic disease in adults or children. The authors report a case of an adolescent male with features of GATA2 deficiency resulting from a complete monoallelic deletion, review chromosomal anomalies associated with this disorder, and discuss the management implications...
April 3, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29618691/-monomac-syndrome-patient-developing-myelodysplastic-syndrome-following-persistent-ebv-infection
#13
Hideyuki Yamamoto, Hikaru Hattori, Erina Takagi, Takanobu Morishita, Yuichi Ishikawa, Seitaro Terakura, Tetsuya Nishida, Yoshinori Ito, Makoto Murata, Hitoshi Kiyoi
An 18-year-old man was diagnosed with Epstein-Barr virus (EBV) -associated hemophagocytic syndrome (HPS) and treated with prednisolone (PSL) at a previous hospital. During PSL tapering, the HPS symptoms reappeared, and the patient was referred to our hospital. Increased PSL improved the symptoms, but the EBV infection remained unresolved. At age 20, he was admitted to our hospital for newly developed pneumonia and diagnosed with myelodysplastic syndrome (refractory cytopenia with multilineage dysplasia) (MDS-RCMD; normal karyotype, IPSS: Int-1) by bone marrow examination...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29595235/spectrum-of-cutaneous-manifestations-among-patients-with-gata2-deficiency
#14
A Nanda
No abstract text is available yet for this article.
March 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29589201/the-potential-role-of-toll-like-receptor-4-in-mediating-dopaminergic-cell-loss-and-alpha-synuclein-expression-in-the-acute-mptp-mouse-model-of-parkinson-s-disease
#15
Giuseppina Mariucci, Rita Pagiotti, Francesco Galli, Luigina Romani, Carmela Conte
Toll-like receptors (TLRs) may have a role in Parkinson's disease (PD). In this study, we aimed at investigating the dopaminergic cell loss and alpha-synuclein (α-SYN) expression in TLR4-deficient mice (TLR4-/- ) acutely exposed to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), a pharmacological PD model. TLR4 ablation restrained the number of dopaminergic neurons in the substantia nigra (SN), as assessed by tyrosine hydroxylase (TH) protein expression. Intriguingly, TLR4-/- mice showed massive α-SYN protein accumulation in the midbrain along with high α-SYN mRNA levels in cerebral cortex, striatum, hippocampus, and cerebellum...
April 2018: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29588856/diagnosis-of-gata2-haplo-insufficiency-in-a-young-woman-prompted-by-pancytopenia-with-deficiencies-of-b-cell-and-dendritic-cell-development
#16
Allen Sanyi, David L Jaye, Cecilia B Rosand, Amanda Box, Chandrakasan Shanmuganathan, Edmund K Waller
Background: GATA2 deficiency presents with a spectrum of phenotypes including increased susceptibility to viral and bacterial infections, multi-lineage cytopenias, aplastic anemia, leukemic transformation and lymphedema. Allogeneic transplantation is only curative therapy for GATA2 deficiency, but is associated with significant treatment related morbidity and mortality. Given the spectrum of clinical presentation, accurate diagnosis of GATA2 deficiency is necessary to identify patients early in their disease course when allogeneic bone marrow transplantation may be of clinical benefit...
2018: Biomarker Research
https://www.readbyqxmd.com/read/29581184/loss-of-the-hematopoietic-stem-cell-factor-gata2-in-the-osteogenic-lineage-impairs-trabecularization-and-mechanical-strength-of-bone
#17
Alexander Tolkachov, Cornelius Fischer, Thomas H Ambrosi, Melissa Bothe, Chung-Ting Han, Matthias Muenzner, Susanne Mathia, Marjo Salminen, Georg Seifert, Mario Thiele, Georg N Duda, Sebastiaan H Meijsing, Sascha Sauer, Tim J Schulz, Michael Schupp
The transcription factor GATA2 is required for expansion and differentiation of hematopoietic stem cells (HSCs). In mesenchymal stem cells (MSCs) GATA2 blocks adipogenesis, but its biological relevance and underlying genomic events are unknown. We report a dual function of GATA2 in bone homeostasis. GATA2 in MSCs binds near genes involved in skeletal system development and co-localizes with motifs for FOX and HOX transcription factors, known regulators of skeletal development. Ectopic GATA2 blocks osteoblastogenesis by interfering with SMAD1/5/8 activation...
March 26, 2018: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29573577/mutation-profile-and-associated-clinical-features-in-chinese-patients-with-cytogenetically-normal-acute-myeloid-leukemia
#18
S Wang, Y-X Zhang, T Huang, J-N Sui, J Lu, X-J Chen, K-K Wang, X-D Xi, J-M Li, J-Y Huang, B Chen
INTRODUCTION: Cytogenetically normal acute myeloid leukemia (CN-AML), which accounted for nearly half of total AML patients, is a highly heterogeneous subset of AML. The specific genetic profile and the ethnic features of CN-AML are worth to be studied. METHODS: Using deep sequencing technology, we detected the mutation pattern of 39 genes in 152 Chinese CN-AML patients and analyzed their clinical features. RESULTS: A total of 503 mutations of 39 genes were identified in 145 (95...
March 24, 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29570792/genomics-studies-on-musical-aptitude-music-perception-and-practice
#19
REVIEW
Irma Järvelä
When searching for genetic markers inherited together with musical aptitude, genes affecting inner ear development and brain function were identified. The alpha-synuclein gene (SNCA), located in the most significant linkage region of musical aptitude, was overexpressed when listening and performing music. The GATA-binding protein 2 gene (GATA2) was located in the best associated region of musical aptitude and regulates SNCA in dopaminergic neurons, thus linking DNA- and RNA-based studies of music-related traits together...
March 23, 2018: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29567757/hsct-for-gata2-deficiency-across-the-pond
#20
Dennis Hickstein
No abstract text is available yet for this article.
March 22, 2018: Blood
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