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https://www.readbyqxmd.com/read/29143464/mean-platelet-diameter-measurements-to-classify-inherited-thrombocytopenias
#1
K Fixter, D J Rabbolini, B Valecha, M-C Morel-Kopp, S Gabrielli, Q Chen, W S Stevenson, C M Ward
INTRODUCTION: Mean platelet volume (MPV) assists the differential diagnosis of inherited thrombocytopenia (IT) but lacks standardisation and varies between automated analysers. Classification of IT based on mean platelet diameter (MPD) has been proposed by an international collaborative study but has not been validated. METHODS: To assess the applicability of MPD to classify forms of IT, digital images of blood films from patients with established genetic causes for IT were generated, and the MPD measured (ZEISS Axio-scanner and Image J software) by a blinded reviewer...
November 16, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29055225/generation-and-characterization-of-a-human-ipsc-line-sani005-a-containing-the-gray-platelet-associated-heterozygous-mutation-p-q287-in-gfi1b
#2
Marten Hansen, Eszter Varga, Tatjana Wüst, Clemens Mellink, Anne-Marie van der Kevie-Kersemaekers, Anne E Marneth, Marieke von Lindern, Bert van der Reijden, Emile van den Akker
Peripheral blood mononuclear cells were isolated from an individual harboring a heterozygous c.859C→T p.Q287* mutation in GFI1B, causing an autosomal dominant bleeding disorder, platelet type, 17 (BDPLT17). PBMCs were differentiated to erythroblasts and reprogrammed by lentiviral delivery of a self-silencing hOKSM polycistronic vector. Pluripotency of iPSC line was confirmed by expression of associated markers and by in vitro spontaneous differentiation towards the 3 germ layers. Normal karyotype confirmed the genomic integrity of iPSCs and the presence of disease causing mutation was shown by Sanger sequencing...
October 12, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28983615/identification-of-differentially-expressed-genes-in-budd%C3%A2-chiari-syndrome-by-rna%C3%A2-sequencing
#3
Bin Yang, Dong Qu, An-Li Zhao, Yu Li, Ran-Ran Meng, Ji-Xiang Yu, Peng Gao, Hua Peng Lin
Budd‑Chiari syndrome (BCS) is an uncommon disease characterized by the occlusion or obstruction of hepatic venous outflow. The mechanism of BCS is still unclear and there are no accurate and effective diagnostic or therapeutic tools. In the present study, blood samples from BCS patients and healthy controls were used for RNA‑sequencing. The differentially expressed genes (DEGs) in BCS patients compared with healthy controls were identified. Gene Ontology (GO) enrichment analysis, Kyoto Encyclopedia of Genes and Genomes pathway analysis and Protein‑Protein Interaction (PPI) networks construction were performed for DEGs...
December 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28943250/in%C3%A2-vivo-generation-of-engraftable-murine-hematopoietic-stem-cells-by-gfi1b-c-fos-and-gata2-overexpression-within-teratoma
#4
Masao Tsukada, Yasunori Ota, Adam C Wilkinson, Hans J Becker, Motomi Osato, Hiromitsu Nakauchi, Satoshi Yamazaki
Generation of hematopoietic stem cells (HSCs) from pluripotent stem cells (PSCs) could potentially provide unlimited HSCs for clinical transplantation, a curative treatment for numerous blood diseases. However, to date, bona fide HSC generation has been largely unsuccessful in vitro. We have previously described proof of concept for in vivo HSC generation from PSCs via teratoma formation. However, our first-generation system was complex and the output low. Here, we further optimize this technology and demonstrate the following: (1) simplified HSC generation using transcription factor overexpression; (2) improved HSC output using c-Kit-deficient host mice, and (3) that teratomas can be transplanted and cryopreserved...
October 10, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28880435/thrombocytopenia-and-cd34-expression-is-decoupled-from-%C3%AE-granule-deficiency-with-mutation-of-the-first-growth-factor-independent-1b-zinc-finger
#5
D J Rabbolini, M-C Morel-Kopp, Q Chen, S Gabrielli, L C Dunlop, L P Chew, N Blair, T A Brighton, N Singh, A P Ng, C M Ward, W S Stevenson
Essentials The phenotypes of different growth factor-independent 1B (GFI1B) variants are not established. GFI1B variants produce heterogeneous clinical phenotypes dependent on the site of mutation. Mutation of the first non-DNA-binding zinc-finger causes a mild platelet and clinical phenotype. GFI1B regulates the CD34 promoter; platelet CD34 expression is an indicator of GFI1B mutation. SUMMARY: Background Mutation of the growth factor-independent 1B (GFI1B) fifth DNA-binding zinc-finger domain causes macrothrombocytopenia and α-granule deficiency leading to clinical bleeding...
September 7, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28821283/gene-expression-profiling-of-idiopathic-interstitial-pneumonias-iips-identification-of-potential-diagnostic-markers-and-therapeutic-targets
#6
Yasushi Horimasu, Nobuhisa Ishikawa, Masaya Taniwaki, Kakuhiro Yamaguchi, Kosuke Hamai, Hiroshi Iwamoto, Shinichiro Ohshimo, Hironobu Hamada, Noboru Hattori, Morihito Okada, Koji Arihiro, Yuji Ohtsuki, Nobuoki Kohno
BACKGROUND: Chronic fibrosing idiopathic interstitial pneumonia (IIP) is characterized by alveolar epithelial damage, activation of fibroblast proliferation, and loss of normal pulmonary architecture and function. This study aims to investigate the genetic backgrounds of IIP through gene expression profiling and pathway analysis, and to identify potential biomarkers that can aid in diagnosis and serve as novel therapeutic targets. METHODS: RNA extracted from lung specimens of 12 patients with chronic fibrosing IIP was profiled using Illumina Human WG-6 v3 BeadChips, and Ingenuity Pathway Analysis was performed to identify altered functional and canonical signaling pathways...
August 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28667074/lsd1-inhibitor-t-3775440-inhibits-sclc-cell-proliferation-by-disrupting-lsd1-interactions-with-snag-domain-proteins-insm1-and-gfi1b
#7
Shinji Takagi, Yoshinori Ishikawa, Akio Mizutani, Shinji Iwasaki, Satoru Matsumoto, Yusuke Kamada, Toshiyuki Nomura, Kazuhide Nakamura
T-3775440 is an irreversible inhibitor of the chromatin demethylase LSD1, which exerts antiproliferative effects by disrupting the interaction between LSD1 and GFI1B, a SNAG domain transcription factor, inducing leukemia cell transdifferentiation. Here, we describe the anticancer effects and mechanism of action of T-3775440 in small-cell lung cancer (SCLC). T-3775440 inhibited proliferation of SCLC cells in vitro and retarded SCLC tumor growth in vivo T-3775440 disrupted the interaction between LSD1 and the transcriptional repressor INSM1, thereby inhibiting expression of neuroendocrine-associated genes, such as ASCL1 INSM1 silencing phenocopied the effects of T-3775440 on gene expression and cell proliferation, consistent with the likelihood T-3775440 mediated its effects in SCLC by inhibiting INSM1...
September 1, 2017: Cancer Research
https://www.readbyqxmd.com/read/28580815/gfi1b-variants-associated-with-thrombocytopenia
#8
David J Rabbolini, Marie-Christine Morel-Kopp, Christopher M Ward, William S Stevenson
No abstract text is available yet for this article.
July 2017: Platelets
https://www.readbyqxmd.com/read/28550182/recessive-grey-platelet-like-syndrome-with-unaffected-erythropoiesis-in-the-absence-of-the-splice-isoform-gfi1b-p37
#9
Harald Schulze, Axel Schlagenhauf, Georgi Manukjan, Christine Beham-Schmid, Oliver Andres, Eva Klopocki, Eva-Maria König, Harald Haidl, Simon Panzer, Karina Althaus, Wolfgang E Muntean, Wolfgang Schwinger, Christian Urban, Andreas Greinacher, Tamam Bakchoul, Markus G Seidel
No abstract text is available yet for this article.
May 26, 2017: Haematologica
https://www.readbyqxmd.com/read/28457011/diagnosis-of-inherited-platelet-disorders-on-a-blood-smear-a-tool-to-facilitate-worldwide-diagnosis-of-platelet-disorders
#10
A Greinacher, A Pecci, S Kunishima, K Althaus, P Nurden, C L Balduini, T Bakchoul
Essentials There are many hereditary platelet disorders (HPD) but diagnosing these is challenging. We provide a method to diagnose several HPDs using standard blood smears requiring < 100 µL blood. By this approach, the underlying cause of HPD was characterized in ~25-30% of referred individuals. The method facilitates diagnosis of HPD for patients of all ages around the world. SUMMARY: Background Many hereditary thrombocytopenias and/or platelet function disorders have been identified, but diagnosis of these conditions remains challenging...
July 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28416505/hematopoietic-transcription-factor-mutations-important-players-in-inherited-platelet-defects
#11
REVIEW
Natthapol Songdej, A Koneti Rao
Transcription factors (TFs) are proteins that bind to specific DNA sequences and regulate expression of genes. The molecular and genetic mechanisms in most patients with inherited platelet defects are unknown. There is now increasing evidence that mutations in hematopoietic TFs are an important underlying cause for defects in platelet production, morphology, and function. The hematopoietic TFs implicated in patients with impaired platelet function and number include runt-related transcription factor 1, Fli-1 proto-oncogene, E-twenty-six (ETS) transcription factor (friend leukemia integration 1), GATA-binding protein 1, growth factor independent 1B transcriptional repressor, ETS variant 6, ecotropic viral integration site 1, and homeobox A11...
May 25, 2017: Blood
https://www.readbyqxmd.com/read/28401061/transcription-factor-gfi1b-in-health-and-disease
#12
REVIEW
Eduardo Anguita, Francisco J Candel, Alberto Chaparro, Juan J Roldán-Etcheverry
Many human diseases arise through dysregulation of genes that control key cell fate pathways. Transcription factors (TFs) are major cell fate regulators frequently involved in cancer, particularly in leukemia. The GFI1B gene, coding a TF, was identified by sequence homology with the oncogene growth factor independence 1 (GFI1). Both GFI1 and GFI1B have six C-terminal C2H2 zinc fingers and an N-terminal SNAG (SNAIL/GFI1) transcriptional repression domain. Gfi1 is essential for neutrophil differentiation in mice...
2017: Frontiers in Oncology
https://www.readbyqxmd.com/read/28212192/genetic-control-of-erythropoiesis
#13
REVIEW
Laxminath Tumburu, Swee Lay Thein
PURPOSE OF REVIEW: The discovery of several genetic variants associated with erythroid traits and subsequent elucidation of their functional mechanisms are exemplars of the power of the new genetic and genomic technology. The present review highlights findings from recent genetic studies related to the control of erythropoiesis and dyserythropoiesis, and fetal hemoglobin, an erythroid-related trait. RECENT FINDINGS: Identification of the genetic modulators of erythropoiesis involved two approaches: genome-wide association studies (GWASs) using single nucleotide polymorphism (SNP) arrays that revealed the common genetic variants associated with erythroid phenotypes (hemoglobin, red cell count, MCV, MCH) and fetal hemoglobin; and massive parallel sequencing such as whole genome sequencing (WGS) and whole exome sequencing (WES) that led to the discovery of the rarer variants (GFI1B, SBDS, RPS19, PKLR, EPO, EPOR, KLF1, GATA1)...
May 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28096094/platelet-cd34-expression-and-%C3%AE-%C3%AE-granule-abnormalities-in-gfi1b-and-runx1-related-familial-bleeding-disorders
#14
LETTER
Anna E Marneth, Waander L van Heerde, Konnie M Hebeda, Britta A P Laros-van Gorkom, Wideke Barteling, Brigith Willemsen, Aniek O de Graaf, Annet Simons, Joop H Jansen, Frank Preijers, Marjolijn C Jongmans, Bert A van der Reijden
No abstract text is available yet for this article.
March 23, 2017: Blood
https://www.readbyqxmd.com/read/28060340/reprogramming-mouse-embryonic-fibroblasts-with-transcription-factors-to-induce-a-hemogenic-program
#15
Michael G Daniel, Carlos-Filipe Pereira, Jeffrey M Bernitz, Ihor R Lemischka, Kateri Moore
This protocol details the induction of a hemogenic program in mouse embryonic fibroblasts (MEFs) via overexpression of transcription factors (TFs). We first designed a reporter screen using MEFs from human CD34-tTA/TetO-H2BGFP (34/H2BGFP) double transgenic mice. CD34(+) cells from these mice label H2B histones with GFP, and cease labeling upon addition of doxycycline (DOX). MEFS were transduced with candidate TFs and then observed for the emergence of GFP(+) cells that would indicate the acquisition of a hematopoietic or endothelial cell fate...
December 16, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28056107/autophagy-is-an-innate-mechanism-associated-with-leprosy-polarization
#16
Bruno Jorge de Andrade Silva, Mayara Garcia de Mattos Barbosa, Priscila Ribeiro Andrade, Helen Ferreira, José Augusto da Costa Nery, Suzana Côrte-Real, Gilberto Marcelo Sperandio da Silva, Patricia Sammarco Rosa, Mario Fabri, Euzenir Nunes Sarno, Roberta Olmo Pinheiro
Leprosy is a chronic infectious disease that may present different clinical forms according to the immune response of the host. Levels of IFN-γ are significantly raised in paucibacillary tuberculoid (T-lep) when compared with multibacillary lepromatous (L-lep) patients. IFN-γ primes macrophages for inflammatory activation and induces the autophagy antimicrobial mechanism. The involvement of autophagy in the immune response against Mycobacterium leprae remains unexplored. Here, we demonstrated by different autophagic assays that LC3-positive autophagosomes were predominantly observed in T-lep when compared with L-lep lesions and skin-derived macrophages...
January 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28041820/combined-alpha-delta-platelet-storage-pool-deficiency-is-associated-with-mutations-in-gfi1b
#17
Carlos R Ferreira, Dong Chen, Shirley M Abraham, David R Adams, Karen L Simon, May C Malicdan, Thomas C Markello, Meral Gunay-Aygun, William A Gahl
Combined alpha-delta platelet storage pool deficiency is characterized by the absence or reduction in the number of both alpha granules and dense bodies. This disorder can have variable severity as well as a variable inheritance pattern. We describe two patients from unrelated families with combined alpha-delta storage pool deficiency due to mutations in GFI1B, a zinc finger protein known to act as a transcriptional repressor of various genes. We demonstrate that this disease is associated with either a heterozygous mutation (de novo or familial) abrogating the binding of the zinc fingers with the promoter of its target genes, or by hypomorphic biallelic mutations in GFI1B leading to autosomal recessive inheritance...
March 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27903753/a-novel-lsd1-inhibitor-t-3775440-disrupts-gfi1b-containing-complex-leading-to-transdifferentiation-and-impaired-growth-of-aml-cells
#18
Yoshinori Ishikawa, Kanae Gamo, Masato Yabuki, Shinji Takagi, Kosei Toyoshima, Kazuhide Nakayama, Akiko Nakayama, Megumi Morimoto, Hitoshi Miyashita, Ryo Dairiki, Yukiko Hikichi, Naoki Tomita, Daisuke Tomita, Shinichi Imamura, Misa Iwatani, Yusuke Kamada, Satoru Matsumoto, Ryujiro Hara, Toshiyuki Nomura, Ken Tsuchida, Kazuhide Nakamura
Dysregulation of lysine (K)-specific demethylase 1A (LSD1), also known as KDM1A, has been implicated in the development of various cancers, including leukemia. Here, we describe the antileukemic activity and mechanism of action of T-3775440, a novel irreversible LSD1 inhibitor. Cell growth analysis of leukemia cell lines revealed that acute erythroid leukemia (AEL) and acute megakaryoblastic leukemia cells (AMKL) were highly sensitive to this compound. T-3775440 treatment enforced transdifferentiation of erythroid/megakaryocytic lineages into granulomonocytic-like lineage cells...
February 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/27768697/cooperative-stimulation-of-megakaryocytic-differentiation-by-gfi1b-gene-targets-kindlin3-and-talin1
#19
Divya Singh, Ghanshyam Upadhyay, Ananya Sengupta, Mohammed A Biplob, Shaleen Chakyayil, Tiji George, Shireen Saleque
Understanding the production and differentiation of megakaryocytes from progenitors is crucial for realizing the biology and functions of these vital cells. Previous gene ablation studies demonstrated the essential role of the transcriptional repressor Gfi1b (growth factor independence 1b) in the generation of both erythroid and megakaryocytic cells. However, our recent work has demonstrated the down-regulation of this factor during megakaryocytic differentiation. In this study we identify two new gene targets of Gfi1b, the cytoskeletal proteins Kindlin3 and Talin1, and demonstrate the inverse expression and functions of these cytoskeletal targets relative to Gfi1b, during megakaryocytic differentiation...
2016: PloS One
https://www.readbyqxmd.com/read/27588453/whole-exome-sequencing-identifies-loci-associated-with-blood-cell-traits-and-reveals-a-role-for-alternative-gfi1b-splice-variants-in-human-hematopoiesis
#20
Linda M Polfus, Rajiv K Khajuria, Ursula M Schick, Nathan Pankratz, Raha Pazoki, Jennifer A Brody, Ming-Huei Chen, Paul L Auer, James S Floyd, Jie Huang, Leslie Lange, Frank J A van Rooij, Richard A Gibbs, Ginger Metcalf, Donna Muzny, Narayanan Veeraraghavan, Klaudia Walter, Lu Chen, Lisa Yanek, Lewis C Becker, Gina M Peloso, Aoi Wakabayashi, Mart Kals, Andres Metspalu, Tõnu Esko, Keolu Fox, Robert Wallace, Nora Franceschini, Nena Matijevic, Kenneth M Rice, Traci M Bartz, Leo-Pekka Lyytikäinen, Mika Kähönen, Terho Lehtimäki, Olli T Raitakari, Ruifang Li-Gao, Dennis O Mook-Kanamori, Guillaume Lettre, Cornelia M van Duijn, Oscar H Franco, Stephen S Rich, Fernando Rivadeneira, Albert Hofman, André G Uitterlinden, James G Wilson, Bruce M Psaty, Nicole Soranzo, Abbas Dehghan, Eric Boerwinkle, Xiaoling Zhang, Andrew D Johnson, Christopher J O'Donnell, Jill M Johnsen, Alexander P Reiner, Santhi K Ganesh, Vijay G Sankaran
No abstract text is available yet for this article.
September 1, 2016: American Journal of Human Genetics
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