Thiếu hụt MKL1 dẫn đến khiếm khuyết nghiêm trọng về tính di động của bạch cầu trung tính do rối loạn polymer hóa actin

Wang, 2002, Potentiation of serum response factor activity by a family of myocardin-related transcription factors, Proc Natl Acad Sci USA, 99, 14855, 10.1073/pnas.222561499 Esnault, 2014, Rho-actin signaling to the MRTF coactivators dominates the immediate transcriptional response to serum in fibroblasts, Genes Dev, 28, 943, 10.1101/gad.239327.114 Posern, 2006, Actin’ together: serum response factor, its cofactors and the link to signal transduction, Trends Cell Biol, 16, 588, 10.1016/j.tcb.2006.09.008 Parmacek, 2007, Myocardin-related transcription factors: critical coactivators regulating cardiovascular development and adaptation, Circ Res, 100, 633, 10.1161/01.RES.0000259563.61091.e8 Olson, 2010, Linking actin dynamics and gene transcription to drive cellular motile functions, Nat Rev Mol Cell Biol, 11, 353, 10.1038/nrm2890 Gualdrini, 2016, SRF co-factors control the balance between cell proliferation and contractility, Mol Cell, 64, 1048, 10.1016/j.molcel.2016.10.016 Cheng, 2009, Role for MKL1 in megakaryocytic maturation, Blood, 113, 2826, 10.1182/blood-2008-09-180596 Sun, 2006, Acute myeloid leukemia-associated Mkl1 (Mrtf-a) is a key regulator of mammary gland function, Mol Cell Biol, 26, 5809, 10.1128/MCB.00024-06 Li, 2006, Requirement of a myocardin-related transcription factor for development of mammary myoepithelial cells, Mol Cell Biol, 26, 5797, 10.1128/MCB.00211-06 Record, 2015, Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1, Blood, 126, 1527, 10.1182/blood-2014-12-611012 Kuijpers, 2007, Natural history and early diagnosis of LAD-1/variant syndrome, Blood, 109, 3529, 10.1182/blood-2006-05-021402 Zhao, 2013, Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations, Blood, 122, 109, 10.1182/blood-2013-03-494039 Wu, 2019, Highly efficient therapeutic gene editing of human hematopoietic stem cells, Nat Med, 25, 776, 10.1038/s41591-019-0401-y Treisman, 1986, Identification of a protein-binding site that mediates transcriptional response of the c-fos gene to serum factors, Cell, 46, 567, 10.1016/0092-8674(86)90882-2 Sun, 2014, Structural and mechanistic insights into Mcm2-7 double-hexamer assembly and function, Genes Dev, 28, 2291, 10.1101/gad.242313.114 Aparicio, 1997, Components and dynamics of DNA replication complexes in S. cerevisiae: redistribution of MCM proteins and Cdc45p during S phase, Cell, 91, 59, 10.1016/S0092-8674(01)80009-X Singh, 2008, A novel Cas family member, HEPL, regulates FAK and cell spreading, Mol Biol Cell, 19, 1627, 10.1091/mbc.e07-09-0953 Zimmerman, 2004, Cytoskeletal restraints regulate homotypic ALCAM-mediated adhesion through PKCalpha independently of Rho-like GTPases, J Cell Sci, 117, 2841, 10.1242/jcs.01139 Park, 2015, EphB/ephrinB signaling in cell adhesion and migration, Mol Cells, 38, 14, 10.14348/molcells.2015.2116 de Saint-Vis, 2003, Human dendritic cells express neuronal Eph receptor tyrosine kinases: role of EphA2 in regulating adhesion to fibronectin, Blood, 102, 4431, 10.1182/blood-2003-02-0500 Xie, 2013, Serum response factor indirectly regulates type I interferon-signaling in macrophages, J Interferon Cytokine Res, 33, 588, 10.1089/jir.2012.0065 Taylor, 2014, SRF is required for neutrophil migration in response to inflammation, Blood, 123, 3027, 10.1182/blood-2013-06-507582 Selvaraj, 2004, Expression profiling of serum inducible genes identifies a subset of SRF target genes that are MKL dependent, BMC Mol Biol, 5, 13, 10.1186/1471-2199-5-13 Sotiropoulos, 1999, Signal-regulated activation of serum response factor is mediated by changes in actin dynamics, Cell, 98, 159, 10.1016/S0092-8674(00)81011-9 Gilles, 2009, MAL/SRF complex is involved in platelet formation and megakaryocyte migration by regulating MYL9 (MLC2) and MMP9, Blood, 114, 4221, 10.1182/blood-2009-03-209932 Szklarczyk, 2015, STRING v10: protein-protein interaction networks, integrated over the tree of life, Nucleic Acids Res, 43, D447, 10.1093/nar/gku1003 Gazendam, 2016, How neutrophils kill fungi, Immunol Rev, 273, 299, 10.1111/imr.12454 Amulic, 2012, Neutrophil function: from mechanisms to disease, Annu Rev Immunol, 30, 459, 10.1146/annurev-immunol-020711-074942 Velasquez, 2013, Activation of MRTF-A-dependent gene expression with a small molecule promotes myofibroblast differentiation and wound healing, Proc Natl Acad Sci USA, 110, 16850, 10.1073/pnas.1316764110 Lee, 2015, Smooth Muscle Cell Genome Browser: enabling the identification of novel serum response factor target genes, PLoS One, 10, e0133751, 10.1371/journal.pone.0133751 Malmström, 2004, Transforming growth factor-beta 1 specifically induce proteins involved in the myofibroblast contractile apparatus, Mol Cell Proteomics, 3, 466, 10.1074/mcp.M300108-MCP200 Evans, 2003, TGF-beta1-mediated fibroblast-myofibroblast terminal differentiation-the role of Smad proteins, Exp Cell Res, 282, 90, 10.1016/S0014-4827(02)00015-0 Darby, 2014, Fibroblasts and myofibroblasts in wound healing, Clin Cosmet Investig Dermatol, 7, 301 Smith, 2012, MKL1 and MKL2 play redundant and crucial roles in megakaryocyte maturation and platelet formation, Blood, 120, 2317, 10.1182/blood-2012-04-420828 Mokalled, 2010, Myocardin-related transcription factors regulate the Cdk5/Pctaire1 kinase cascade to control neurite outgrowth, neuronal migration and brain development, Development, 137, 2365, 10.1242/dev.047605 Ono, 2004, Microscopic evidence that actin-interacting protein 1 actively disassembles actin-depolymerizing factor/cofilin-bound actin filaments, J Biol Chem, 279, 14207, 10.1074/jbc.M313418200 Chen, 2015, Aip1 promotes actin filament severing by cofilin and regulates constriction of the cytokinetic contractile ring, J Biol Chem, 290, 2289, 10.1074/jbc.M114.612978 Miller, 1971, Lazy-leucocyte syndrome. A new disorder of neutrophil function, Lancet, 1, 665, 10.1016/S0140-6736(71)92679-1 Constantopoulos, 1975, Lazy-leukocyte syndrome. A case report, J Pediatr, 87, 945, 10.1016/S0022-3476(75)80913-9 Kuhns, 2016, Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency, Blood, 128, 2135, 10.1182/blood-2016-03-706028 Pfajfer, 2018, Mutations affecting the actin regulator WD repeat-containing protein 1 lead to aberrant lymphoid immunity, J Allergy Clin Immunol, 142, 1589, 10.1016/j.jaci.2018.04.023 Bos, 2007, GEFs and GAPs: critical elements in the control of small G proteins, Cell, 129, 865, 10.1016/j.cell.2007.05.018 Lawson, 2018, Rho GTPase signaling complexes in cell migration and invasion, J Cell Biol, 217, 447, 10.1083/jcb.201612069 Takefuji, 2010, Mutation of ARHGAP9 in patients with coronary spastic angina, J Hum Genet, 55, 42, 10.1038/jhg.2009.120 Furukawa, 2001, Isolation of a novel human gene, ARHGAP9, encoding a rho-GTPase activating protein, Biochem Biophys Res Commun, 284, 643, 10.1006/bbrc.2001.5022 Zhang, 2018, ARHGAP9 suppresses the migration and invasion of hepatocellular carcinoma cells through up-regulating FOXJ2/E-cadherin, Cell Death Dis, 9, 916, 10.1038/s41419-018-0976-0 Krishnan, 2009, Structure and functions of profilins, Biophys Rev, 1, 71, 10.1007/s12551-009-0010-y Korenbaum, 1998, The role of profilin in actin polymerization and nucleotide exchange, Biochemistry, 37, 9274, 10.1021/bi9803675 Ding, 2006, Silencing profilin-1 inhibits endothelial cell proliferation, migration and cord morphogenesis, J Cell Sci, 119, 4127, 10.1242/jcs.03178 Joy, 2017, The myocardin-related transcription factor MKL co-regulates the cellular levels of two profilin isoforms, J Biol Chem, 292, 11777, 10.1074/jbc.M117.781104 Rouillard, 2016, The harmonizome: a collection of processed datasets gathered to serve and mine knowledge about genes and proteins, Database (Oxford), 2016, baw100, 10.1093/database/baw100 Evrin, 2009, A double-hexameric MCM2-7 complex is loaded onto origin DNA during licensing of eukaryotic DNA replication, Proc Natl Acad Sci USA, 106, 20240, 10.1073/pnas.0911500106 Gou, 2018, Expression of minichromosome maintenance proteins (MCM) and cancer prognosis: a meta-analysis, J Cancer, 9, 1518, 10.7150/jca.22691 Hoogendijk, 2019, Dynamic transcriptome-proteome correlation networks reveal human myeloid differentiation and neutrophil-specific programming, Cell Rep, 29, 2505, 10.1016/j.celrep.2019.10.082 Grassi, 2018, Dynamics of transcription regulation in human bone marrow myeloid differentiation to mature blood neutrophils, Cell Rep, 24, 2784, 10.1016/j.celrep.2018.08.018 Parsons, 2010, Cell adhesion: integrating cytoskeletal dynamics and cellular tension, Nat Rev Mol Cell Biol, 11, 633, 10.1038/nrm2957 Vicente-Manzanares, 2005, Cell migration at a glance, J Cell Sci, 118, 4917, 10.1242/jcs.02662 Vicente-Manzanares, 2011, Adhesion dynamics at a glance, J Cell Sci, 124, 3923, 10.1242/jcs.095653 Kuijpers, 1997, Leukocyte adhesion deficiency type 1 (LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins, J Clin Invest, 100, 1725, 10.1172/JCI119697 Hayward, 1979, Delayed separation of the umbilical cord, widespread infections, and defective neutrophil mobility, Lancet, 1, 1099, 10.1016/S0140-6736(79)91786-0 Kuijpers, 2017, Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency, J Allergy Clin Immunol, 140, 273, 10.1016/j.jaci.2016.09.061 Gau, 2018, SRF’ing and SAP’ing - the role of MRTF proteins in cell migration, J Cell Sci, 131, jcs218222, 10.1242/jcs.218222 Moulding, 2013, Actin cytoskeletal defects in immunodeficiency, Immunol Rev, 256, 282, 10.1111/imr.12114 Janssen, 2019, Primary immunodeficiencies caused by mutations in actin regulatory proteins, Immunol Rev, 287, 121, 10.1111/imr.12716 Burns, 2017, Primary immunodeficiencies due to abnormalities of the actin cytoskeleton, Curr Opin Hematol, 24, 16, 10.1097/MOH.0000000000000296 Aldrich, 1954, Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea, Pediatrics, 13, 133, 10.1542/peds.13.2.133 Zhang, 2009, Combined immunodeficiency associated with DOCK8 mutations, N Engl J Med, 361, 2046, 10.1056/NEJMoa0905506 Letunic, 2018, 20 years of the SMART protein domain annotation resource, Nucleic Acids Res, 46, D493, 10.1093/nar/gkx922