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2014 1
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Page 1
GATA factor mutations in hematologic disease.
Crispino JD, Horwitz MS. Crispino JD, et al. Blood. 2017 Apr 13;129(15):2103-2110. doi: 10.1182/blood-2016-09-687889. Epub 2017 Feb 8. Blood. 2017. PMID: 28179280 Free PMC article. Review.
The first three factors, GATAs 1, 2, and 3, are essential for normal hematopoiesis, and their mutations are responsible for a variety of blood disorders. Acquired and inherited GATA1 mutations contribute to Diamond-Blackfan anemia, acute megakaryoblastic leukemia, transien …
The first three factors, GATAs 1, 2, and 3, are essential for normal hematopoiesis, and their mutations are responsible for a variety of blo …
Regulation of GATA1 levels in erythropoiesis.
Gutiérrez L, Caballero N, Fernández-Calleja L, Karkoulia E, Strouboulis J. Gutiérrez L, et al. IUBMB Life. 2020 Jan;72(1):89-105. doi: 10.1002/iub.2192. Epub 2019 Nov 25. IUBMB Life. 2020. PMID: 31769197 Free article. Review.
GATA1 is considered as the "master" transcription factor in erythropoiesis. ...The importance of maintaining proper GATA1 protein homeostasis in erythropoiesis is demonstrated by the fact that both GATA1 loss and its overexpression result in lethal anemia. .. …
GATA1 is considered as the "master" transcription factor in erythropoiesis. ...The importance of maintaining proper GATA1 prot …
New germline GATA1 variant in females with anemia and thrombocytopenia.
Svidnicki MCCM, Filho MAF, Brandão MM, Dos Santos M, de Oliveira Dias R, Tavares RS, Assis-Mendonça GR, Traina F, Saad STO. Svidnicki MCCM, et al. Blood Cells Mol Dis. 2021 May;88:102545. doi: 10.1016/j.bcmd.2021.102545. Epub 2021 Feb 3. Blood Cells Mol Dis. 2021. PMID: 33611093
We analyzed the coding regions of 78 myeloid neoplasms-related genes and 16 encoding xenobiotic metabolizing genes using Next-Generation Sequencing. The GATA1 variant c.788C > T, p.T263M, located in the C-terminal zinc finger domain of GATA1, was detected in the …
We analyzed the coding regions of 78 myeloid neoplasms-related genes and 16 encoding xenobiotic metabolizing genes using Next-Generation Seq …
Megakaryocyte polyploidization: role in platelet production.
Vainchenker W, Raslova H. Vainchenker W, et al. Platelets. 2020 Aug 17;31(6):707-716. doi: 10.1080/09537104.2019.1667497. Epub 2019 Sep 22. Platelets. 2020. PMID: 31544577 Review.
MK polyploidization is regulated by extrinsic factors, more particularly by thrombopoietin (TPO), which during a platelet stress increases first polyploidization before enhancing the MK number and by transcription factors such as RUNX1, GATA1, and FLI1 that regulate MK dif …
MK polyploidization is regulated by extrinsic factors, more particularly by thrombopoietin (TPO), which during a platelet stress increases f …
Inherited platelet dysfunction and hematopoietic transcription factor mutations.
Songdej N, Rao AK. Songdej N, et al. Platelets. 2017 Jan;28(1):20-26. doi: 10.1080/09537104.2016.1203400. Epub 2016 Jul 27. Platelets. 2017. PMID: 27463948 Free PMC article. Review.
The hematopoietic TFs implicated in the patients with impaired platelet function include Runt related TF 1 (RUNX1), Fli-1 proto-oncogene, ETS TF (FLI1), GATA-binding protein 1 (GATA1), and growth factor independent 1B transcriptional repressor (GFI1B). ...Mutations involvi …
The hematopoietic TFs implicated in the patients with impaired platelet function include Runt related TF 1 (RUNX1), Fli-1 proto-oncogene, ET …
GATA Transcription Factors: Basic Principles and Related Human Disorders.
Fujiwara T. Fujiwara T. Tohoku J Exp Med. 2017 Jun;242(2):83-91. doi: 10.1620/tjem.242.83. Tohoku J Exp Med. 2017. PMID: 28566565 Free article. Review.
Mutations in GATA-1 are associated with acute megakaryoblastic leukemia (AMKL), congenital erythroid hypoplasia (Diamond-Blackfan anemia; DBA), and X-linked anemia and/or thrombocytopenia. Conversely, GATA-2 functions early in hematopoiesis and is required for maintenance …
Mutations in GATA-1 are associated with acute megakaryoblastic leukemia (AMKL), congenital erythroid hypoplasia (Diamond-Blackfan anemia; DB …
GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis.
Saultier P, Cabantous S, Puceat M, Peiretti F, Bigot T, Saut N, Bordet JC, Canault M, van Agthoven J, Loosveld M, Payet-Bornet D, Potier D, Falaise C, Bernot D, Morange PE, Alessi MC, Poggi M. Saultier P, et al. J Thromb Haemost. 2021 Sep;19(9):2287-2301. doi: 10.1111/jth.15412. Epub 2021 Jul 10. J Thromb Haemost. 2021. PMID: 34060193 Free article.
The polyploidization defect observed in GATA1 variant carriers is not well understood. OBJECTIVE: To extensively phenotype two pedigrees displaying different variants in the GATA1 gene and determine if GATA1 controls MYH10 expression levels, a key modulator o …
The polyploidization defect observed in GATA1 variant carriers is not well understood. OBJECTIVE: To extensively phenotype two pedigr …
Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.
Zaninetti C, Rivera J, Vater L, Ohlenforst S, Leinøe E, Böckelmann D, Freson K, Thiele T, Makhloufi H, Rath M, Eberl W, Wolff M, Freyer C, Wesche J, Zieger B, Felbor U, Heidel FH, Greinacher A. Zaninetti C, et al. J Thromb Haemost. 2024 Apr;22(4):1179-1186. doi: 10.1016/j.jtha.2023.12.007. Epub 2023 Dec 15. J Thromb Haemost. 2024. PMID: 38103735
GATA1-related thrombocytopenia (GATA1-RT) is a rare X-linked inherited platelet disorder (IPD) characterized by macrothrombocytopenia and dyserythropoiesis. Enlarged platelet size, reduced platelet granularity, and noticeable red blood cell anisopoikilocytosi …
GATA1-related thrombocytopenia (GATA1-RT) is a rare X-linked inherited platelet disorder (IPD) characterized by macroth …
Genetic Profiling of Idiopathic Antenatal Intracranial Haemorrhage: What We Know?
Cavaliere AF, Turrini I, Pallottini M, Vidiri A, Marchi L, Perelli F, Zaami S, Scambia G, Signore F. Cavaliere AF, et al. Genes (Basel). 2021 Apr 15;12(4):573. doi: 10.3390/genes12040573. Genes (Basel). 2021. PMID: 33920939 Free PMC article. Review.
Infectious disease, maternal drug exposure, alloimmune thrombocytopenia, maternal trauma, coagulation disorders and twin-to-twin transfusion syndrome can cause fetal ICH. ...
Infectious disease, maternal drug exposure, alloimmune thrombocytopenia, maternal trauma, coagulation disorders and twin-to-twin tran …
31 results