NKX2-3

Summary

Gene Symbol: NKX2-3
Description: NK2 homeobox 3
Alias: CSX3, NK2.3, NKX2.3, NKX2C, NKX4-3, homeobox protein Nkx-2.3, NK2 transcription factor related, locus 3, homeobox protein NK-2 homolog C
Species: human

Top Publications

  1. doi Differences in genetic background between active smokers, passive smokers, and non-smokers with Crohn's disease
    Frans 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
  2. doi Genes regulated by Nkx2-3 in sporadic and inflammatory bowel disease-associated colorectal cancer cell lines
    Wei 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
  3. doi Genes regulated by Nkx2-3 in siRNA-mediated knockdown B cells: implication of endothelin-1 in inflammatory bowel disease
    Wei Yu
    Department of Surgery, Pennsylvania State University College of Medicine, Hershey, PA 17033, USA
    Mol Genet Metab 100:88-95. 2010
  4. doi Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis
    Andre Franke
    Institute for Clinical Molecular Biology, Christian Albrechts University, D 24105 Kiel, Germany
    Nat Genet 40:713-5. 2008
  5. pmc Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility
    Miles Parkes
    Inflammatory Bowel Disease Research Group, Addenbrooke s Hospital, University of Cambridge, Cambridge CB2 2QQ, UK
    Nat Genet 39:830-2. 2007
  6. pmc Contribution of NKX2-3 polymorphisms to inflammatory bowel diseases: a meta-analysis of 35358 subjects
    Xiaocheng Lu
    1 Department of Neurosurgery, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, Jiangsu, 210029, China 2
    Sci Rep 4:3924. 2014
  7. doi Detection of Mycobacterium avium subspecies paratuberculosis in patients with Crohn's disease is unrelated to the presence of single nucleotide polymorphisms rs2241880 (ATG16L1) and rs10045431 (IL12B)
    James P Dalton
    Department of Microbiology, University College Cork, Cork, Ireland
    Med Microbiol Immunol 203:195-205. 2014
  8. pmc Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis
    Nicola Whiffin
    Molecular and Population Genetics, Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Hum Mol Genet 23:4729-37. 2014
  9. pmc Global hypomethylation and promoter methylation in small intestinal neuroendocrine tumors: an in vivo and in vitro study
    Omid Fotouhi
    Department of Oncology Pathology Karolinska Institutet Karolinska University Hospital Stockholm, Sweden
    Epigenetics 9:987-97. 2014
  10. pmc Crystal structures of CRISPR-associated Csx3 reveal a manganese-dependent deadenylation exoribonuclease
    Xinfu Yan
    a Department of Biological Sciences and Center for Bioimaging Sciences National University of Singapore Singapore, Singapore
    RNA Biol 12:749-60. 2015

Research Grants

Scientific Experts

  • JUDY CHO
  • Dermot P B McGovern
  • Miles Parkes
  • Isabelle Cleynen
  • Andre Franke
  • Carmen S Tellez
  • Keiko Yamazaki
  • H Kasahara
  • Johan Van Limbergen
  • Rinse K Weersma
  • Charlie W Lees
  • Wei Yu
  • R E Breitbart
  • Devendra Amre
  • Zhenwu Lin
  • Peter Balogh
  • Zoltán Kellermayer
  • Tamas Czompoly
  • Kirk McHugh
  • Sylvia Evans
  • Paul Krieg
  • Daniel L Weeks
  • Hans Henning Arnold
  • Eloy F Robles
  • O Pabst
  • Xingrong Lu
  • Shaotang Li
  • Arpád Lábadi
  • Sheila A Fisher
  • Jeffrey C Barrett
  • Ece Topuzlu
  • Jose A Martinez-Climent
  • Lin Ting Hsia
  • Gitana Pranculiene
  • Chih Hao Hsu
  • Xinfu Yan
  • Omid Fotouhi
  • James P Dalton
  • Xiaocheng Lu
  • Nicola Whiffin
  • Ognoon Mungunsukh
  • J R Shaffer
  • Pan Chi
  • Jie Pan
  • Irina Dinu
  • Anna Latiano
  • Takashi Arai
  • Gerrit John
  • Gerard Dijkstra
  • Frans van der Heide
  • Cisca Wijmenga
  • Eleonora A M Festen
  • Nora Meggyesi
  • C Jung
  • Michihiro Tanaka
  • Barbara Dema
  • Justyna Leja
  • M Tanaka
  • Hazel Drummond
  • Tariq Ahmad
  • Jilur Ghori
  • Christopher G Mathew
  • Clive M Onnie
  • Xiaoliang Wang
  • Panos Deloukas
  • Mark Tremelling
  • Suzannah Bumpstead
  • Rhian Gwilliam
  • Jack Satsangi
  • Natalie J Prescott
  • Carl A Anderson
  • H H Arnold
  • Lon R Cardon
  • Judit Bovári
  • R Seymour
  • Heike Weiss
  • R P Harvey
  • Haruko Hayasaka
  • Jesus Maria Hernández-Rivas
  • Yolanda R Carrasco
  • David G Oscier
  • Laura Macri-Pellizeri
  • Lai Mun Wang
  • Carlos Panizo
  • Ming Qing Du
  • Xabier Agirre
  • Ricardo Garcia-Munoz
  • Gediminas Kiudelis
  • Anton Parker
  • Laura Barrio

Detail Information

Publications71

  1. doi Differences in genetic background between active smokers, passive smokers, and non-smokers with Crohn's disease
    Frans 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...
  2. doi Genes regulated by Nkx2-3 in sporadic and inflammatory bowel disease-associated colorectal cancer cell lines
    Wei 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...
  3. doi Genes regulated by Nkx2-3 in siRNA-mediated knockdown B cells: implication of endothelin-1 in inflammatory bowel disease
    Wei 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...
  4. doi Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis
    Andre 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...
  5. pmc Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility
    Miles 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...
  6. pmc Contribution of NKX2-3 polymorphisms to inflammatory bowel diseases: a meta-analysis of 35358 subjects
    Xiaocheng Lu
    1 Department of Neurosurgery, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, Jiangsu, 210029, China 2
    Sci Rep 4:3924. 2014
    ..269). This meta-analysis provided a robust result that persons with a G or T allele may have a moderately increased risk of CD, and suggested that rs10883365 polymorphism was also a candidate gene polymorphism for UC susceptibility. ..
  7. doi Detection of Mycobacterium avium subspecies paratuberculosis in patients with Crohn's disease is unrelated to the presence of single nucleotide polymorphisms rs2241880 (ATG16L1) and rs10045431 (IL12B)
    James P Dalton
    Department of Microbiology, University College Cork, Cork, Ireland
    Med Microbiol Immunol 203:195-205. 2014
    ..The presence of MAP was not related to the status of the SNPs in ATG16L1 or IL12B. We have found no evidence for the contribution of these SNPs to the presence of MAP in CD patients...
  8. pmc Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis
    Nicola Whiffin
    Molecular and Population Genetics, Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Hum Mol Genet 23:4729-37. 2014
    ..Our findings provide further insights into the genetic and biological basis of inherited genetic susceptibility to CRC. ..
  9. pmc Global hypomethylation and promoter methylation in small intestinal neuroendocrine tumors: an in vivo and in vitro study
    Omid Fotouhi
    Department of Oncology Pathology Karolinska Institutet Karolinska University Hospital Stockholm, Sweden
    Epigenetics 9:987-97. 2014
    ..In conclusion, promoter methylation of tumor suppressor genes is associated with suppressed gene expression and DNA copy number alterations in SI-NETs, and may be restored in vitro. ..
  10. pmc Crystal structures of CRISPR-associated Csx3 reveal a manganese-dependent deadenylation exoribonuclease
    Xinfu Yan
    a Department of Biological Sciences and Center for Bioimaging Sciences National University of Singapore Singapore, Singapore
    RNA Biol 12:749-60. 2015
    ..Here we report 3 crystal structures of Archaeoglobus fulgidus Csx3 (AfCsx3) in free form, in complex with manganese ions and in complex with a single-stranded RNA (ssRNA) fragment, ..
  11. doi Associations between NOD2, IRGM and ORMDL3 polymorphisms and pediatric-onset inflammatory bowel disease in the Lithuanian population
    Gitana Pranculiene
    Department of Paediatrics, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania
    Medicina (Kaunas) 52:325-330. 2016
    ..However, only a small number of studies were performed in early-onset IBD. The aim of this study was to assess the association between NOD2, IL23R, ATG16L1, IRGM, IL10, NKX2-3 and ORMDL3 variants and early-onset IBD...
  12. pmc Homeobox NKX2-3 promotes marginal-zone lymphomagenesis by activating B-cell receptor signalling and shaping lymphocyte dynamics
    Eloy F Robles
    Division of Hemato Oncology, Center for Applied Medical Research CIMA, University of Navarra, IdiSNA, Pamplona 31008, Spain
    Nat Commun 7:11889. 2016
    ..This study implicates oncogenic NKX2-3 in lymphomagenesis, and provides a valid experimental mouse model for studying the biology and therapy of human marginal-zone B-cell lymphomas. ..
  13. pmc Myofibroblasts are distinguished from activated skin fibroblasts by the expression of AOC3 and other associated markers
    Lin Ting Hsia
    Cancer and Immunogenetics Laboratory, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom
    Proc Natl Acad Sci U S A 113:E2162-71. 2016
    ..Our results show that colorectal myofibroblasts, as defined by the expression of AOC3, NKX2-3, and other markers, are a distinctly different cell type from TGFβ-activated fibroblasts. ..
  14. pmc Recognition of a pseudo-symmetric RNA tetranucleotide by Csx3, a new member of the CRISPR associated Rossmann fold superfamily
    Ece Topuzlu
    a Department of Chemistry and Biochemistry, Montana State University, Bozeman, MT 59717, USA
    RNA Biol 13:254-7. 2016
    ..Here we revisit the structural analysis of one such protein, Csx3, and show that this homodimeric protein utilizes a Rossmann fold for the recognition of an RNA tetranucleotide...
  15. pmc Transcriptome Profiling of Pediatric Core Binding Factor AML
    Chih Hao Hsu
    Center for Biomedical Informatics and Information Technology, National Cancer Institute, Rockville, MD, 20850, United States of America
    PLoS ONE 10:e0138782. 2015
    ..These data provide comprehensive transcriptome profiling of CBF-AML and delineate genes and pathways that are differentially expressed, providing insights into the shared biology as well as differences in the two CBF subsets...
  16. ncbi Divergence of Vascular Specification in Visceral Lymphoid Organs-Genetic Determinants and Differentiation Checkpoints
    Zoltán Kellermayer
    a Department of Immunology and Biotechnology
    Int Rev Immunol 35:489-502. 2016
    ..3 homeodomain transcription factor...
  17. doi Absence of Nkx2-3 homeodomain transcription factor reprograms the endothelial addressin preference for lymphocyte homing in Peyer's patches
    Zoltán Kellermayer
    Department of Immunology and Biotechnology, Faculty of Medicine, University of Pecs, H 7624 Pecs, Hungary Lymphoid Organogenesis Research Group, Szentágothai János Research Center, University of Pecs, H 7624 Pecs, Hungary
    J Immunol 193:5284-93. 2014
    ....
  18. pmc Establishment of a predictive genetic model for estimating chemotherapy sensitivity of colorectal cancer with synchronous liver metastasis
    Xingrong Lu
    Department of Colorectal Surgery, Union Hospital, Fujian Medical University, Fuzhou, China
    Cancer Biother Radiopharm 28:552-8. 2013
    ..We examined the whole genome expression profile in advanced colorectal cancer (ACC) patients who had received FOLFOX4 chemotherapy to establish a genetic biomarker model predicting chemotherapy sensitivity...
  19. pmc Transforming growth factor-β1 selectively inhibits hepatocyte growth factor expression via a micro-RNA-199-dependent posttranscriptional mechanism
    Ognoon Mungunsukh
    Department of Pharmacology, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA
    Mol Biol Cell 24:2088-97. 2013
    ..the expression of a luciferase reporter harboring the HGF 3' UTR but not a pmirGLO reporter containing the NK2 3' UTR...
  20. pmc SNP-SNP interactions discovered by logic regression explain Crohn's disease genetics
    Irina Dinu
    School of Public Health, University of Alberta, Edmonton, Alberta, Canada
    PLoS ONE 7:e43035. 2012
    ..R codes, data examples, and a ReadMe file are available for download from our website: http://www.ualberta.ca/~yyasui/homepage.html...
  21. pmc GWAS of dental caries patterns in the permanent dentition
    J R Shaffer
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    J Dent Res 92:38-44. 2013
    ..Suggestive genetic associations were also observed for ABCG2, PKD2, the dentin/bone SCPP sub-family, EDNRA, TJFBR1, NKX2-3, IFT88, TWSG1, IL17D, and SMAD7 (p values < 7e-6). We nominate these novel genes for future study...
  22. pmc PTPN2 is associated with Crohn's disease and its expression is regulated by NKX2-3
    Wei Yu
    Department of Surgery, Pennsylvania State University, Hershey, PA, USA
    Dis Markers 32:83-91. 2012
    ..These results suggest that PTPN2 may have an important role in CD pathogenesis and may represent a potential diagnostic and therapeutic target for IBD...
  23. ncbi The murine homeobox genes Nkx2.3 and Nkx2.6 are located on chromosomes 19 and 14, respectively
    N G Copeland
    Mammalian Genetics Laboratory, ABL Basic Research Program, National Cancer Institute, Frederick Cancer Research and Development Center, Maryland 21702
    Genomics 22:655-6. 1994
  24. doi Identification of Nkx2-3 and TGFB1I1 expression levels as potential biomarkers to predict the effects of FOLFOX4 chemotherapy
    Shaotang Li
    Department of Colorectal and Anal Surgery, Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
    Cancer Biol Ther 13:443-9. 2012
    ....
  25. doi Genes differentially regulated by NKX2-3 in B cells between ulcerative colitis and Crohn's disease patients and possible involvement of EGR1
    Wei Yu
    Department of Colon and Rectal Surgery, Pennsylvania State University College of Medicine, Hershey, PA 17033, USA
    Inflammation 35:889-99. 2012
    ..mRNA expressions of NKX2-3 and EGR1 were increased in diseased intestinal tissues from 19 CD patients. NKX2-3 may play different roles in UC and CD pathogenesis by differential regulation of EGR1...
  26. pmc Genome-wide association identifies multiple ulcerative colitis susceptibility loci
    Dermot P B McGovern
    Inflammatory Bowel and Immunobiology Research Institute, Cedars Sinai Medical Center, Los Angeles, California, USA
    Nat Genet 42:332-7. 2010
    ..These data implicate approximately 30 loci in ulcerative colitis, thereby providing insight into disease pathogenesis...
  27. ncbi NK-2 homeobox genes and heart development
    R P Harvey
    Walter and Eliza Hall Institute of Medical Research, Royal Melbourne Hospital, Victoria, Australia
    Dev Biol 178:203-16. 1996
    ....
  28. ncbi Abnormal lymphoid organ development in immunodeficient mutant mice
    R Seymour
    Department of Veterinary Pathobiology, Purdue University, Veterinary Pathology Building, 725 Harrison Street, West Lafayette, IN 47907 2027 USA
    Vet Pathol 43:401-23. 2006
    ....
  29. ncbi Differential binding of an SRF/NK-2/MEF2 transcription factor complex in normal versus neoplastic smooth muscle tissues
    C J Phiel
    Department of Pathology, Anatomy, and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Biol Chem 276:34637-50. 2001
    ....
  30. pmc NKX2-3 transcriptional regulation of endothelin-1 and VEGF signaling in human intestinal microvascular endothelial cells
    Wei Yu
    Department of Surgery, Pennsylvania State University, Hershey, Pennsylvania, United States of America
    PLoS ONE 6:e20454. 2011
    ..To understand the cellular function of NKX2-3 and its potential role underlying IBD pathogenesis, we investigated the genes regulated by NKX2-3 in HIMEC using cDNA microarray...
  31. doi Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort
    Rinse 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...
  32. pmc Absence of Nkx2-3 homeodomain transcription factor induces the formation of LYVE-1-positive endothelial cysts without lymphatic commitment in the spleen
    Zoltán 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...
  33. doi NKX2-3 variant rs11190140 is associated with IBD and alters binding of NFAT
    Gerrit 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...
  34. pmc Investigation of multiple susceptibility loci for inflammatory bowel disease in an Italian cohort of patients
    Anna 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...
  35. pmc Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease
    Sheila 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...
  36. ncbi Complex organizational defects of fibroblast architecture in the mouse spleen with Nkx2.3 homeodomain deficiency
    Judit 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...
  37. ncbi Distinct roles of lymphotoxin-beta signaling and the homeodomain transcription factor Nkx2.3 in the ontogeny of endothelial compartments in spleen
    Peter 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...
  38. ncbi Genetic analysis of the LEW.1AR1-iddm rat: an animal model for spontaneous diabetes mellitus
    Heike 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...
  39. ncbi Zebrafish foxi one modulates cellular responses to Fgf signaling required for the integrity of ear and jaw patterning
    Robert 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...
  40. ncbi 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 responses
    David 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...
  41. ncbi NK-2 class homeobox genes and pharyngeal/oral patterning: Nkx2-3 is required for salivary gland and tooth morphogenesis
    Christine 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...
  42. ncbi Characterization of homo- and heterodimerization of cardiac Csx/Nkx2.5 homeoprotein
    H 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...
  43. pmc NKX2.3 is required for MAdCAM-1 expression and homing of lymphocytes in spleen and mucosa-associated lymphoid tissue
    O 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...
  44. pmc Phenotypic characterization of the murine Nkx2.6 homeobox gene by gene targeting
    M 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...
  45. ncbi NKX2 gene expression in neuroectoderm but not in mesendodermally derived structures depends on sonic hedgehog in mouse embryos
    O 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...
  46. ncbi Targeted disruption of the homeobox transcription factor Nkx2-3 in mice results in postnatal lethality and abnormal development of small intestine and spleen
    O 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...
  47. ncbi Vertebrate homologs of tinman and bagpipe: roles of the homeobox genes in cardiovascular development
    M 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...
  48. ncbi The mouse Nkx2-3 homeodomain gene is expressed in gut mesenchyme during pre- and postnatal mouse development
    O Pabst
    Department of Cell and Molecular Biology, University of Braunschweig, Federal Republic of Germany
    Dev Dyn 209:29-35. 1997
    ....
  49. ncbi A new tinman-related gene, nkx2.7, anticipates the expression of nkx2.5 and nkx2.3 in zebrafish heart and pharyngeal endoderm
    K 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...
  50. pmc Recent insights into the genetics of inflammatory bowel disease
    Judy 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...
  51. doi Novel markers for enterochromaffin cells and gastrointestinal neuroendocrine carcinomas
    Justyna 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...
  52. ncbi Screening of new tumor suppressor genes in sporadic colorectal cancer patients
    Xiaoliang 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...
  53. doi Genetic variants in surfactant, pulmonary-associated protein D (SFTPD) and Japanese susceptibility to ulcerative colitis
    Michihiro Tanaka
    First Department of Internal Medicine, Sapporo Medical University, Chuo Ku, Sapporo, Japan
    Inflamm Bowel Dis 15:918-25. 2009
    ....
  54. ncbi CpG island methylation profiling in human melanoma cell lines
    Carmen 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...
  55. doi The genetics of Crohn's disease
    Johan 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...
  56. doi Lack of association of NKX2-3, IRGM, and ATG16L1 inflammatory bowel disease susceptibility variants with celiac disease
    Barbara 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...
  57. doi Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk
    Eleonora 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...
  58. doi Inflammatory Bowel Diseases: the genetic revolution
    C 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...
  59. doi Positive association of genetic variants in the upstream region of NKX2-3 with Crohn's disease in Japanese patients
    K 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...
  60. doi 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)...
  61. doi The genetics and immunopathogenesis of inflammatory bowel disease
    Judy 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...
  62. doi Association between genome-wide association studies reported SNPs and pediatric-onset Crohn's disease in Canadian children
    Devendra 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...
  63. pmc Molecular reclassification of Crohn's disease by cluster analysis of genetic variants
    Isabelle 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...
  64. pmc NKX2-3 and IRGM variants are associated with disease susceptibility to IBD in Eastern European patients
    Nora 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)...
  65. ncbi 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 disease
    Wei 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...
  66. doi New IBD genetics: common pathways with other diseases
    C 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...
  67. doi Increased expression of NKX2.3 mRNA transcribed from the risk haplotype for ulcerative colitis in the involved colonic mucosa
    Takashi 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...
  68. doi Transcription factor Nkx2-3 controls the vascular identity and lymphocyte homing in the spleen
    Tamas Czompoly
    Department of Immunology and Biotechnology, Faculty of Medicine, University of Pecs, H 7624 Pecs, Hungary
    J Immunol 186:6981-9. 2011
    ....
  69. ncbi Regional expression of the homeobox gene Nkx-2.2 in the developing mammalian forebrain
    M Price
    European Molecular Biology Laboratory, Heidelberg, Germany
    Neuron 8:241-55. 1992
    ..Nkx-2.2 may be involved in specifying diencephalic neuromeric boundaries...
  70. pmc Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
    Jeffrey 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 Grants6

  1. Nkx2-5 and congenital heart defects in Xenopus
    Daniel L Weeks; Fiscal Year: 2013
    ..These studies aim at identifying the genes and developmental processes that depend upon these transcription factors to better understand how misregulation can be mitigated. ..
  2. Co-regulatory Model of Smooth Muscle Myogenesis
    Kirk McHugh; Fiscal Year: 2006
    ..abstract_text> ..
  3. REGULATION OF MYOCARDIAL DEVELOPMENT
    Paul Krieg; Fiscal Year: 1999
    ..This information will improve our knowledge of the causes of congenital heart defects and thereby aid in devising strategies for prevention and cure. ..
  4. TINMAN HOMOLOGUES AND CARDIAC DEVELOPMENT
    Sylvia Evans; Fiscal Year: 2001
    ....
  5. IDENTIFYING MAJOR SUSCEPTIBILITY GENES OF IBD
    JUDY 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. ..
  6. Mapping Chromosome 3q Inflammatory Bowel Disease Genes
    JUDY CHO; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..