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Genomes and Genes
| NKX2-3SummaryGene Symbol: NKX2-3 Description: NK2 homeobox 3 Alias: CSX3, NK2.3, NKX2.3, NKX2C, NKX4-3, NK2 transcription factor related, locus 3, homeobox protein NK-2 homolog C, homeobox protein Nkx-2.3 Species: human Top Publications
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Publications
Differences in genetic background between active smokers, passive smokers, and non-smokers with Crohn's diseaseFrans van der Heide
Department of Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Am J Gastroenterol 105:1165-72. 2010..We studied allelic associations of 19 confirmed variants located in 14 CD-associated genes or loci, in CD patients stratified for active smoking at diagnosis and passive smoking in childhood...
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibilityMiles Parkes
Inflammatory Bowel Disease Research Group, Addenbrooke s Hospital, University of Cambridge, Cambridge CB2 2QQ, UK
Nat Genet 39:830-2. 2007..We obtained replication for the autophagy-inducing IRGM gene on chromosome 5q33.1 (replication P = 6.6 x 10(-4), combined P = 2.1 x 10(-10)) and for nine other loci, including NKX2-3, PTPN2 and gene deserts on chromosomes 1q and 5p13...- Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitisAndre Franke
Institute for Clinical Molecular Biology, Christian Albrechts University, D 24105 Kiel, Germany
Nat Genet 40:713-5. 2008..Among these loci, we identified variants in 3p21.31, NKX2-3 and CCNY as susceptibility factors for both diseases, whereas variants in PTPN2, HERC2 and STAT3 were associated only with ulcerative colitis in our sample collection... - Genes regulated by Nkx2-3 in siRNA-mediated knockdown B cells: implication of endothelin-1 in inflammatory bowel diseaseWei Yu
Department of Surgery, Pennsylvania State University College of Medicine, Hershey, PA 17033, USA
Mol Genet Metab 100:88-95. 2010..05). Our present results demonstrate that a decrease in Nkx2-3 gene expression level can profoundly alter the expression of genes and cellular functions relevant to the pathogenesis and progression of IBD, such as EDN1... - Genes regulated by Nkx2-3 in sporadic and inflammatory bowel disease-associated colorectal cancer cell linesWei Yu
Department of Surgery, Division of Colon and Rectal Surgery, Penn State Milton S Hershey Medical Center, Pennsylvania State University College of Medicine, 500 University Drive, Hershey, PA 17033, USA
Dig Dis Sci 55:3171-80. 2010..Nkx2-3 has been reported to be up-regulated in B cell lines and intestinal tissues from Crohn's disease patients and down-regulated in colorectal cancer... 
NK-2 homeobox genes and heart developmentR P Harvey
Walter and Eliza Hall Institute of Medical Research, Royal Melbourne Hospital, Victoria, Australia
Dev Biol 178:203-16. 1996....- Differential binding of an SRF/NK-2/MEF2 transcription factor complex in normal versus neoplastic smooth muscle tissuesC J Phiel
Department of Pathology, Anatomy, and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
J Biol Chem 276:34637-50. 2001.... - Investigation of multiple susceptibility loci for inflammatory bowel disease in an Italian cohort of patientsAnna Latiano
Gastroenterology Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy a latiano operapadrepio it
PLoS ONE 6:e22688. 2011..In this study we aimed to investigate the influence of SNPs tagging the genes/loci PTGER4, TNFSF15, NKX2-3, ZNF365, IFNG, PTPN2, PSMG1, and HLA in a large pediatric- and adult-onset IBD Italian cohort... - Inflammatory Bowel Diseases: the genetic revolutionC Jung
Hopital Robert Debre, Service de gastroentérologie et nutrition pédiatriques, 48, boulevard Serurier, 75019 Paris, France
Gastroenterol Clin Biol 33:S123-30. 2009..However they clearly demonstrate the importance of innate immunity and autophagy for Crohn's disease and of the TH-17 differentiation for ulcerative colitis, Crohn's disease and other inflammatory disorders... - Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease riskEleonora A M Festen
Department of Gastroenterology and Hepatology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
Am J Gastroenterol 105:395-402. 2010..Genetic susceptibility is known to make a major contribution to the pathogenesis of ulcerative colitis (UC). Recently, three studies, including a genome-wide association study (GWAS), reported novel UC risk loci... - Lack of association of NKX2-3, IRGM, and ATG16L1 inflammatory bowel disease susceptibility variants with celiac diseaseBarbara Dema
Clinical Immunology Department, Hospital Clinico San Carlos, Madrid, Spain
Hum Immunol 70:946-9. 2009..In conclusion, no evidence of association with CD has been reported for the Crohn's disease susceptibility polymorphisms studied in the NKX2-3, ATG16L1, and IRGM genes... - The genetics of Crohn's diseaseJohan Van Limbergen
Department of Pediatric Gastroenterology and Nutrition, Royal Hospital for Sick Children, Edinburgh EH9 1LF, United Kingdom
Annu Rev Genomics Hum Genet 10:89-116. 2009..g., TNFRSF6B). Not only has the identification of these loci improved our understanding of the pathophysiology of CD, this knowledge also holds real promise for clinical practice... - CpG island methylation profiling in human melanoma cell linesCarmen S Tellez
Department of Leukemia, The University of Texas M D Anderson Cancer Center, Houston, Texas, USA
Melanoma Res 19:146-55. 2009..We conclude that aberrant hypermethylation, is frequent in melanoma cell lines, directly correlated with global DNA methylation, and independent of BRAF and NRAS mutations... - Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL)Andre Franke
Institute for Clinical Molecular Biology, University Hospital Schleswig Holstein, Christian Albrechts University, Kiel, Germany
Nat Genet 42:292-4. 2010..81 x 10(-11) and P(rs5771069) = 4.21 x 10(-8), respectively)... - Association between genome-wide association studies reported SNPs and pediatric-onset Crohn's disease in Canadian childrenDevendra K Amre
Department of Pediatrics, University of Montreal, Montreal, QC, Canada
Hum Genet 128:131-5. 2010..Based on the results, we confirmed associations between two of the three novel pediatric-CD loci and other regions reported for associations with either pediatric and/or adult-onset CD... - NKX2-3 variant rs11190140 is associated with IBD and alters binding of NFATGerrit John
Department of Surgery, Pennsylvania State University College of Medicine, 500 University Drive, Hershey, PA 17033, USA
Mol Genet Metab 104:174-9. 2011..The binding of NFAT1 to the NKX2-3 promoter region with rs1190140 was confirmed by ChIP assay. We speculate that the rs11190140 may regulate NKX2-3 expression and have a role in IBD pathogenesis... - Absence of Nkx2-3 homeodomain transcription factor induces the formation of LYVE-1-positive endothelial cysts without lymphatic commitment in the spleenZoltán Kellermayer
Department of Immunology and Biotechnology, University of Pecs, Faculty of Medicine, Hungary
J Histochem Cytochem 59:690-700. 2011..Thus the splenic vascular defects in Nkx2-3 deficiency include the generation of LYVE-1(+) cysts, comprised of endothelial cells without being committed along the LEC lineage... - NKX2-3 transcriptional regulation of endothelin-1 and VEGF signaling in human intestinal microvascular endothelial cellsWei Yu
Department of Surgery, Pennsylvania State University, Hershey, Pennsylvania, United States of America
PLoS ONE 6:e20454. 2011..CONCLUSION/RELEVANCE: NKX2-3 may play an important role in IBD pathogenesis by regulating endothelin-1 and VEGF signaling in HIMECs... - Transcription factor Nkx2-3 controls the vascular identity and lymphocyte homing in the spleenTamas Czompoly
Department of Immunology and Biotechnology, Faculty of Medicine, University of Pecs, H 7624 Pecs, Hungary
J Immunol 186:6981-9. 2011.... - Recent insights into the genetics of inflammatory bowel diseaseJudy H Cho
Department of Medicine and Genetics, Yale University, New Haven, Connecticut, USA
Gastroenterology 140:1704-12. 2011..Future genetic studies will be directed toward identifying uncommon variations with potentially greater statistical effects, defining population differences, and more completely accounting for familial transmission of disease... - Increased expression of NKX2.3 mRNA transcribed from the risk haplotype for ulcerative colitis in the involved colonic mucosaTakashi Arai
Division of Gastroenterology, Tohoku University Graduate School of Medicine, Sendai 980 8574, Japan
Hum Immunol 72:587-91. 2011..The demonstrated allelic expression imbalance supports the idea that the risk haplotype of NKX2.3 confers susceptibility to UC through increasing expression of NKX2.3 mRNA in the colonic mucosa... - New IBD genetics: common pathways with other diseasesC W Lees
Gastrointestinal Unit, Molecular Medicine Centre, University of Edinburgh, Edinburgh, UK
Gut 60:1739-53. 2011..This arena will move forwards very quickly in the next few years. Ultimately, we anticipate that these genetic insights will transform the landscape of common complex diseases such as IBD... - Association of a Nkx2-3 polymorphism with Crohn's disease and expression of Nkx2-3 is up-regulated in B cell lines and intestinal tissues with Crohn's diseaseWei Yu
Department of Surgery, The Pennsylvania State University College of Medicine, Hershey, PA, USA
J Crohns Colitis 3:189-95. 2009..To replicate the association of Nkx2-3 rs10883365 SNP with Crohn's disease in patients from a familial IBD registry from the central Pennsylvania area and study mRNA and protein expression of Nkx2-3 in CD patients... - NKX2-3 and IRGM variants are associated with disease susceptibility to IBD in Eastern European patientsNora Meggyesi
Department of Molecular Diagnostics, Hungarian National Blood Transfusion Service, H 1113 Budapest, Hungary
World J Gastroenterol 16:5233-40. 2010..To investigate variants of immunity-related GTPase family M (IRGM) and NKX2-3 genes and genotype-phenotype in Eastern European patients with inflammatory bowel disease (IBD)... - Molecular reclassification of Crohn's disease by cluster analysis of genetic variantsIsabelle Cleynen
Department of Gastroenterology, KU Leuven, Leuven, Belgium
PLoS ONE 5:e12952. 2010..We hypothesized that the large number of confirmed genetic variants enables (better) classification of CD patients... - Genetic variants in surfactant, pulmonary-associated protein D (SFTPD) and Japanese susceptibility to ulcerative colitisMichihiro Tanaka
First Department of Internal Medicine, Sapporo Medical University, Chuo Ku, Sapporo, Japan
Inflamm Bowel Dis 15:918-25. 2009.... - Screening of new tumor suppressor genes in sporadic colorectal cancer patientsXiaoliang Wang
Department of General Surgery, Shanghai Jiao Tong University Affiliated First People s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200080, China
Hepatogastroenterology 55:2039-44. 2008..The purpose of this study was to screen for unknown tumor suppressor genes (TSGs) in patients with sporadic CRC... - NK-2 class homeobox genes and pharyngeal/oral patterning: Nkx2-3 is required for salivary gland and tooth morphogenesisChristine Biben
Victor Chang Cardiac Research Institute, St Vincent s Hospital, Darlinghurst, NSW, Australia
Int J Dev Biol 46:415-22. 2002..These data suggest roles for Nkx2-3 during pharyngeal organogenesis, although the considerable potential for genetic redundancy within and outside of this gene family may mask earlier functions in organ specification... - Characterization of homo- and heterodimerization of cardiac Csx/Nkx2.5 homeoproteinH Kasahara
Cardiovascular Division, Beth Israel Deaconess Medical Center, Department of Medicine, Harvard Medical School, Boston, Massachusetts 02215, USA
J Biol Chem 276:4570-80. 2001..These results suggest that complex protein-protein interactions of Csx/Nkx2.5 play a role in its transcriptional regulatory function... - NKX2.3 is required for MAdCAM-1 expression and homing of lymphocytes in spleen and mucosa-associated lymphoid tissueO Pabst
Department of Cell and Molecular Biology, Institute for Biochemistry and Biotechnology, Technical University of Braunschweig, 38106 Braunschweig, Germany
EMBO J 19:2015-23. 2000..Therefore, expression of MAdCAM-1 seems to be required for building functional structures in spleen and MALT, a prerequisite for unimpaired migration and segregation of B and T cells to and within these organs... - Phenotypic characterization of the murine Nkx2.6 homeobox gene by gene targetingM Tanaka
Cardiovascular Division, Beth Israel Deaconess Medical Center, and Department of Medicine, Harvard Medical School, Boston, Massachusetts 02215, USA
Mol Cell Biol 20:2874-9. 2000..3 in the pharynx. Interestingly, in mutant embryos homozygous for Nkx2.6, Nkx2.5 expression extended to the lateral side of the pharynx, suggesting a compensatory function of Nkx2.5 in the mutant pharyngeal pouches... - NKX2 gene expression in neuroectoderm but not in mesendodermally derived structures depends on sonic hedgehog in mouse embryosO Pabst
Department of Cell and Molecular Biology, Technical University of Braunschweig, Spielmannstrasse 7, D 38106 Braunschweig, Germany
Dev Genes Evol 210:47-50. 2000..We found that expression of NKX2.1, NKX2.2, and NKX2.9 in neural domains requires Shh signaling, whereas NKX2.3, NKX2.5 and NKX2.6 expression in endoderm and mesoderm is independent of Shh... - Targeted disruption of the homeobox transcription factor Nkx2-3 in mice results in postnatal lethality and abnormal development of small intestine and spleenO Pabst
Department of Cell and Molecular Biology, University of Braunschweig, Spielmannstrasse 7, Germany
Development 126:2215-25. 1999..Moreover, some of the Nkx2-3 mutants exhibit asplenia. Taken together these observations indicate that Nkx2-3 is essential for normal development and functions of the small intestine and spleen... - Vertebrate homologs of tinman and bagpipe: roles of the homeobox genes in cardiovascular developmentM Tanaka
Beth Israel Deaconess Medical Center, Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA
Dev Genet 22:239-49. 1998..In this paper, we discuss molecular mechanisms of cardiovascular development with particular emphasis on roles of transcription factors... - The mouse Nkx2-3 homeodomain gene is expressed in gut mesenchyme during pre- and postnatal mouse developmentO Pabst
Department of Cell and Molecular Biology, University of Braunschweig, Federal Republic of Germany
Dev Dyn 209:29-35. 1997.... - A new tinman-related gene, nkx2.7, anticipates the expression of nkx2.5 and nkx2.3 in zebrafish heart and pharyngeal endodermK H Lee
Department of Cardiology, Children s Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA
Dev Biol 180:722-31. 1996..The results provide a framework in which to analyze potential changes in tinman-related gene expression during abnormal zebrafish development... - Zebrafish foxi one modulates cellular responses to Fgf signaling required for the integrity of ear and jaw patterningRobert M Nissen
Center for Cancer Research and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
Development 130:2543-54. 2003..We propose that correct placement of survival/proliferation cues is essential for shaping the pharyngeal cartilages and that evolutionary links between jaw and ear formation can be traced to Fgf-Foxi1-Pax8 pathways... - Genetic analysis of the LEW.1AR1-iddm rat: an animal model for spontaneous diabetes mellitusHeike Weiss
Institute of Clinical Biochemistry, Hannover Medical School, 30623 Hannover, Germany
Mamm Genome 16:432-41. 2005..1AR1-iddm rat strain will pave the way toward a detailed characterization of the loci conferring diabetes development as well as their functional relevance for the pathogenesis of type 1 diabetes mellitus... - Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohortRinse K Weersma
Department of Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, The Netherlands
Am J Gastroenterol 104:630-8. 2009..A genome-wide association scan by the Wellcome Trust Case Control Consortium (WTCCC) recently identified several novel susceptibility loci... - Novel markers for enterochromaffin cells and gastrointestinal neuroendocrine carcinomasJustyna Leja
Division of Clinical Immunology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
Mod Pathol 22:261-72. 2009..We verified six novel marker genes that may be developed as biomarkers and/or therapeutic targets... - Positive association of genetic variants in the upstream region of NKX2-3 with Crohn's disease in Japanese patientsK Yamazaki
Laboratory for Gastrointestinal Diseases, SNP Research Center, The Institute of Physical and Chemical Research, Kanagawa, Japan
Gut 58:228-32. 2009..The purpose of this study was to study the possible association of the variants reported by the WTCCC with CD in a Japanese population... - Architectural defects in the spleens of Nkx2-3-deficient mice are intrinsic and associated with defects in both B cell maturation and T cell-dependent immune responsesDavid Tarlinton
Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia
J Immunol 170:4002-10. 2003..Collectively, these data indicate a substantial role for Nkx2-3 in the correct association of lymphocytes and splenic stromal elements that is independent of chemokine expression... - The genetics and immunopathogenesis of inflammatory bowel diseaseJudy H Cho
Inflammatory Bowel Disease Center, Section of Digestive Diseases, Yale University, 333 Cedar Street, LMP 1080, New Haven, Connecticut 06520, USA
Nat Rev Immunol 8:458-66. 2008..Comparative analyses of gene associations between these two inflammatory bowel diseases reveal common and unique mechanisms of their immunopathogenesis... - Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's diseaseSheila A Fisher
Department of Medical and Molecular Genetics, King s College London School of Medicine, 8th Floor Guy s Tower, Guy s Hospital, London SE1 9RT, UK
Nat Genet 40:710-2. 2008..These data provide the first detailed illustration of the genetic relationship between these common inflammatory bowel diseases... - Complex organizational defects of fibroblast architecture in the mouse spleen with Nkx2.3 homeodomain deficiencyJudit Bovári
Department of Immunology and Biotechnology, Faculty of Medicine, University of Pecs, Pecs, Hungary
Pathol Oncol Res 13:227-35. 2007..3 activity, possibly also influencing their role in various immune functions linked with complement activation and deposition... - Distinct roles of lymphotoxin-beta signaling and the homeodomain transcription factor Nkx2.3 in the ontogeny of endothelial compartments in spleenPeter Balogh
Department of Immunology and Biotechnology, Faculty of Medicine, University of Pecs, Szigeti ut 12, H 7624, Pecs, Hungary
Cell Tissue Res 328:473-86. 2007..3, whereas the marginal sinus is controlled by both pathways... - Regional expression of the homeobox gene Nkx-2.2 in the developing mammalian forebrainM Price
European Molecular Biology Laboratory, Heidelberg, Germany
Neuron 8:241-55. 1992..Nkx-2.2 may be involved in specifying diencephalic neuromeric boundaries... - Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's diseaseJeffrey C Barrett
Bioinformatics and Statistical Genetics, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
Nat Genet 40:955-62. 2008..The expanded molecular understanding of the basis of this disease offers promise for informed therapeutic development...
Research Grants
- Co-regulatory Model of Smooth Muscle MyogenesisKirk McHugh; Fiscal Year: 2006..abstract_text> ..
- Nkx2-5 and congenital heart defects in XenopusDaniel L Weeks; Fiscal Year: 2010..These studies aim at identifying the genes and developmental processes that depend upon these transcription factors to better understand how misregulation can be mitigated. ..
- Systems Biology of Crohn's DiseaseRAMNIK J contact XAVIER; Fiscal Year: 2010..Aim 3: To delineate proteins required for ATG16L1 and IRGM autophagy response to bacteria using RNAi loss of function analysis ..
- TINMAN HOMOLOGUES AND CARDIAC DEVELOPMENTSylvia Evans; Fiscal Year: 2001....
- IBD Genetics Consortium Data Coordinating CenterJUDY CHO; Fiscal Year: 2007....
- Yale University IBD Genetics Research CenterJUDY CHO; Fiscal Year: 2007..Well-powered gene-gene interactions along the Nod2 and IL23R pathways will be examined based on biologic and genetic models. ..
- Mapping Chromosome 3q Inflammatory Bowel Disease GenesJUDY CHO; Fiscal Year: 2006..Genotyping of all putative functional SNPs in the region will be performed in Jewish and non-Jewish CD and UC to comprehensively define the nature of IBD association contributed by functional variants in this region. ..
- IDENTIFYING MAJOR SUSCEPTIBILITY GENES OF IBDJUDY CHO; Fiscal Year: 2003..Once risk alleles are identified in multiplex families, characterization of the nature and broad significance of specific risk alleles for IBD in a variety of populations will be performed. ..