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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 4954).
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GPI-anchored protein-deficient T cells in patients with aplastic anemia and low-risk myelodysplastic syndrome: implications for the immunopathophysiology of bone marrow failure.Eur J Haematol. 2011 Mar;86(3):226-36. doi: 10.1111/j.1600-0609.2010.01563.x. Epub 2011 Jan 21.
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Eltrombopag maintains human hematopoietic stem and progenitor cells under inflammatory conditions mediated by IFN-.Blood. 2019 May 9;133(19):2043-2055. doi: 10.1182/blood-2018-11-884486. Epub 2019 Feb 25.
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Logic-Gated ROR1 Chimeric Antigen Receptor Expression Rescues T Cell-Mediated Toxicity to Normal Tissues and Enables Selective Tumor Targeting.Cancer Cell. 2019 Mar 18;35(3):489-503.e8. doi: 10.1016/j.ccell.2019.02.003.
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The splicing factor Sf3b1 regulates erythroid maturation and proliferation via TGF signaling in zebrafish.Blood Adv. 2019 Jul 23;3(14):2093-2104. doi: 10.1182/bloodadvances.2018027714.
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Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.Genet Med. 2018 Apr;20(4):452-457. doi: 10.1038/gim.2017.123. Epub 2017 Aug 24.
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Germline Genetic Predisposition to Hematologic Malignancy.J Clin Oncol. 2017 Mar 20;35(9):1018-1028. doi: 10.1200/JCO.2016.70.8644. Epub 2017 Feb 13.
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CSNK1A1 mutations and isolated del(5q) abnormality in myelodysplastic syndrome: a retrospective mutational analysis.Lancet Haematol. 2015 May;2(5):e212-21. doi: 10.1016/S2352-3026(15)00050-2. Epub 2015 May 6.
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A New Zealand White rabbit model of thrombocytopenia and coagulopathy following total body irradiation across the dose range to induce the hematopoietic-subsyndrome of acute radiation syndrome.Int J Radiat Biol. 2021;97(sup1):S19-S31. doi: 10.1080/09553002.2019.1668981. Epub 2020 Oct 5.
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Dysregulated miR34a/diacylglycerol kinase interaction enhances T-cell activation in acquired aplastic anemia.Oncotarget. 2017 Jan 24;8(4):6142-6154. doi: 10.18632/oncotarget.14046.
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Requirement for Dot1l in murine postnatal hematopoiesis and leukemogenesis by MLL translocation.Blood. 2011 May 5;117(18):4759-68. doi: 10.1182/blood-2010-12-327668. Epub 2011 Feb 25.
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dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure. Diabetes. 2017 Apr;66(4):1086-1096. doi: 10.2337/db16-0839. Epub 2017 Jan 10.
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Cholinergic and cytoprotective signaling cascades mediate the mitigative effect of erythropoietin on acute radiation syndrome.Can J Physiol Pharmacol. 2018 May;96(5):442-458. doi: 10.1139/cjpp-2017-0578. Epub 2017 Dec 8.
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Associations of complementation group, ALDH2 genotype, and clonal abnormalities with hematological outcome in Japanese patients with Fanconi anemia.Ann Hematol. 2019 Feb;98(2):271-280. doi: 10.1007/s00277-018-3517-0. Epub 2018 Oct 27.
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Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation.J Pediatr Hematol Oncol. 2010 Aug;32(6):479-85. doi: 10.1097/MPH.0b013e3181e5129d.
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Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.Clin Genet. 2016 May;89(5):574-83. doi: 10.1111/cge.12738. Epub 2016 Feb 9.
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A Relative Deficiency of Lysosomal Acid Lypase Activity Characterizes Non-Alcoholic Fatty Liver Disease.Int J Mol Sci. 2017 May 25;18(6):1134. doi: 10.3390/ijms18061134.
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Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin.Blood. 2017 Aug 17;130(7):875-880. doi: 10.1182/blood-2017-02-768036. Epub 2017 May 30.
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Disruption of Runx1 and Runx3 leads to bone marrow failure and leukemia predisposition due to transcriptional and DNA repair defects.Cell Rep. 2014 Aug 7;8(3):767-82. doi: 10.1016/j.celrep.2014.06.046. Epub 2014 Jul 24.
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A mouse model of hereditary folate malabsorption: deletion of the PCFT gene leads to systemic folate deficiency.Blood. 2011 May 5;117(18):4895-904. doi: 10.1182/blood-2010-04-279653. Epub 2011 Feb 23.
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Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency.Pediatr Blood Cancer. 2018 Jan;65(1). doi: 10.1002/pbc.26777. Epub 2017 Sep 4.
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Emergency or urgent splenectomy in children for non-traumatic reasons.Eur J Pediatr. 2019 Sep;178(9):1363-1367. doi: 10.1007/s00431-019-03424-6. Epub 2019 Jul 16.
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Short Telomere Syndromes in Clinical Practice: Bridging Bench and Bedside.Mayo Clin Proc. 2018 Jul;93(7):904-916. doi: 10.1016/j.mayocp.2018.03.020. Epub 2018 May 24.
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Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. Blood. 2014 Oct 30;124(18):2767-74. doi: 10.1182/blood-2014-08-596445. Epub 2014 Sep 9.
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Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.Am J Hum Genet. 2011 Feb 11;88(2):216-25. doi: 10.1016/j.ajhg.2011.01.004.
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Genotoxicity of tetrahydrofolic acid to hematopoietic stem and progenitor cells.Cell Death Differ. 2018 Nov;25(11):1967-1979. doi: 10.1038/s41418-018-0089-4. Epub 2018 Mar 6.
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A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome.Eur J Haematol. 2015 Jan;94(1):79-82. doi: 10.1111/ejh.12349. Epub 2014 May 13.
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A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.J Bone Miner Res. 2017 Sep;32(9):1853-1859. doi: 10.1002/jbmr.3173. Epub 2017 Jun 26.
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Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBP and C/EBP mRNAs.Nucleic Acids Res. 2016 May 19;44(9):4134-46. doi: 10.1093/nar/gkw005. Epub 2016 Jan 13.
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Congenital hypoplastic bone marrow failure associated with a de novo partial deletion of the MECOM gene at 3q26.2.Gene. 2018 May 20;656:86-94. doi: 10.1016/j.gene.2018.02.061. Epub 2018 Feb 27.
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Perforin gene mutations in patients with acquired aplastic anemia.Blood. 2007 Jun 15;109(12):5234-7. doi: 10.1182/blood-2006-12-063495. Epub 2007 Feb 20.
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Rpl27a mutation in the sooty foot ataxia mouse phenocopies high p53 mouse models.J Pathol. 2011 Aug;224(4):540-52. doi: 10.1002/path.2891. Epub 2011 Jun 14.
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Treatment of CD33-directed chimeric antigen receptor-modified T cells in one patient with relapsed and refractory acute myeloid leukemia.Mol Ther. 2015 Jan;23(1):184-91. doi: 10.1038/mt.2014.164. Epub 2014 Sep 1.
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The PAF1c Subunit CDC73 Is Required for Mouse Hematopoietic Stem Cell Maintenance but Displays Leukemia-Specific Gene Regulation.Stem Cell Reports. 2019 May 14;12(5):1069-1083. doi: 10.1016/j.stemcr.2019.03.010. Epub 2019 Apr 25.
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Impact of germline CTC1 alterations on telomere length in acquired bone marrow failure.Br J Haematol. 2019 Jun;185(5):935-939. doi: 10.1111/bjh.15862. Epub 2019 Mar 19.
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Unbalanced 1;7 translocation in myelodysplastic syndrome following treatment of acute myeloblastic leukemia with an 8;21 translocation.Cancer Genet Cytogenet. 1994 May;74(1):35-9. doi: 10.1016/0165-4608(94)90026-4.
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Refining the phenotype associated with biallelic DNAJC21 mutations.Clin Genet. 2018 Aug;94(2):252-258. doi: 10.1111/cge.13370. Epub 2018 Jun 7.
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Aberrant epigenetic and genetic marks are seen in myelodysplastic leukocytes and reveal Dock4 as a candidate pathogenic gene on chromosome 7q.J Biol Chem. 2011 Jul 15;286(28):25211-23. doi: 10.1074/jbc.M111.235028. Epub 2011 Apr 30.
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E4F1 is a master regulator of CHK1-mediated functions.Cell Rep. 2015 Apr 14;11(2):210-9. doi: 10.1016/j.celrep.2015.03.019. Epub 2015 Apr 2.
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Loss of Faap20 Causes Hematopoietic Stem and Progenitor Cell Depletion in Mice Under Genotoxic Stress.Stem Cells. 2015 Jul;33(7):2320-30. doi: 10.1002/stem.2048. Epub 2015 May 25.
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Discussing and managing hematologic germ line variants.Blood. 2016 Nov 24;128(21):2497-2503. doi: 10.1182/blood-2016-06-716704.
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Kinetics of plasma FLT3 ligand concentration in hematopoietic stem cell transplanted patients.Leuk Lymphoma. 2006 Jan;47(1):77-80. doi: 10.1080/10428190500175122.
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Fancd2-deficient hematopoietic stem and progenitor cells depend on augmented mitochondrial translation for survival and proliferation.Stem Cell Res. 2019 Oct;40:101550. doi: 10.1016/j.scr.2019.101550. Epub 2019 Aug 23.
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Quantitative and qualitative impairments in GATA2 and myeloid neoplasms.IUBMB Life. 2020 Jan;72(1):142-150. doi: 10.1002/iub.2188. Epub 2019 Nov 1.
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Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature.BMC Pediatr. 2019 Oct 11;19(1):346. doi: 10.1186/s12887-019-1724-z.
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Biallelic inactivation of REV7 is associated with Fanconi anemia. J Clin Invest. 2016 Sep 1;126(9):3580-4. doi: 10.1172/JCI88010. Epub 2016 Aug 8.
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Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II). Toxicol Appl Pharmacol. 2018 Aug 15;353:102-108. doi: 10.1016/j.taap.2018.06.015. Epub 2018 Jun 20.
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Case report of a novel MPIG6B gene mutation in a Chinese boy with pancytopenia and splenomegaly.Gene. 2019 Oct 5;715:143957. doi: 10.1016/j.gene.2019.143957. Epub 2019 Jul 2.
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Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations.J Allergy Clin Immunol. 2017 Oct;140(4):1112-1119. doi: 10.1016/j.jaci.2016.10.053. Epub 2017 Jan 21.
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Ssb1 and Ssb2 cooperate to regulate mouse hematopoietic stem and progenitor cells by resolving replicative stress.Blood. 2017 May 4;129(18):2479-2492. doi: 10.1182/blood-2016-06-725093. Epub 2017 Mar 7.
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Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).J Med Genet. 2015 Nov;52(11):738-48. doi: 10.1136/jmedgenet-2015-103292. Epub 2015 Sep 4.
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VPS 45-associated primary infantile myelofibrosis--successful treatment with hematopoietic stem cell transplantation.Pediatr Transplant. 2013 Dec;17(8):820-5. doi: 10.1111/petr.12169.
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Occult hepatosplenic T-gamma delta lymphoma. Value of genotypic analysis in the differential diagnosis.Virchows Arch. 1995;426(6):629-34. doi: 10.1007/BF00192119.
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Acquired ribosomopathies in leukemia and solid tumors.Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):716-719. doi: 10.1182/asheducation-2017.1.716.
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Development and current use of in hematopoietic stem cell transplantation in children and adolescents in Poland: Report of the Polish pediatric study group for hematopoietic stem cell transplantation of the Polish society for pediatric oncology and hematology.Transfus Apher Sci. 2018 Jun;57(3):316-322. doi: 10.1016/j.transci.2018.05.012. Epub 2018 May 16.
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Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations.Biol Blood Marrow Transplant. 2019 Nov;25(11):2186-2196. doi: 10.1016/j.bbmt.2019.07.007. Epub 2019 Jul 12.
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Human uncoupling protein 2 and 3 genes are associated with obesity in Japanese.Endocrine. 2008 Aug-Dec;34(1-3):87-95. doi: 10.1007/s12020-008-9111-9. Epub 2008 Oct 28.
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Mesenchymal cell differentiation and diseases: involvement of translin/TRAX complexes and associated proteins.Ann N Y Acad Sci. 2018 Jun;1421(1):37-45. doi: 10.1111/nyas.13690. Epub 2018 May 8.
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Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening.Hum Mol Genet. 2017 May 15;26(10):1900-1914. doi: 10.1093/hmg/ddx098.
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Increased Reactive Oxygen Species and Cell Cycle Defects Contribute to Anemia in the RASA3 Mutant Mouse Model scat.Front Physiol. 2018 Jun 5;9:689. doi: 10.3389/fphys.2018.00689. eCollection 2018.
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ATP-dependent helicase activity is dispensable for the physiological functions of Recql4.PLoS Genet. 2019 Jul 5;15(7):e1008266. doi: 10.1371/journal.pgen.1008266. eCollection 2019 Jul.
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