MSX1

Summary

Gene Symbol: MSX1
Description: msh homeobox 1
Alias: ECTD3, HOX7, HYD1, STHAG1, homeobox protein MSX-1, homeobox 7, homeobox protein Hox-7, msh homeo box 1, msh homeobox 1-like protein, msh homeobox homolog 1
Species: human
Products:     MSX1

Top Publications

  1. Hewitt J, Clark L, Ivens A, Williamson R. Structure and sequence of the human homeobox gene HOX7. Genomics. 1991;11:670-8 pubmed
    A cosmid containing the human sequence HOX7, homologous to the murine Hox-7 gene, was isolated from a genomic library, and the positions of the coding sequences were determined by hybridization...
  2. Houpis C, Tosios K, Papavasileiou D, Christopoulos P, Koutlas I, Sklavounou A, et al. Parathyroid hormone-related peptide (PTHrP), parathyroid hormone/parathyroid hormone-related peptide receptor 1 (PTHR1), and MSX1 protein are expressed in central and peripheral giant cell granulomas of the jaws. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010;109:415-24 pubmed publisher
    ..RANK/RANKL expression has been shown in central giant cell granuloma of the jaws but PTHrP/PTHR1 has not. MSX1 protein is a classical transcription regulator which promotes cell proliferation and inhibits cell differentiation ..
  3. Blin Wakkach C, Lezot F, Ghoul Mazgar S, Hotton D, Monteiro S, Teillaud C, et al. Endogenous Msx1 antisense transcript: in vivo and in vitro evidences, structure, and potential involvement in skeleton development in mammals. Proc Natl Acad Sci U S A. 2001;98:7336-41 pubmed
    b>Msx1 is a key factor for the development of tooth and craniofacial skeleton and has been proposed to play a pivotal role in terminal cell differentiation...
  4. Padanilam B, Stadler H, Mills K, McLeod L, Solursh M, Lee B, et al. Characterization of the human HOX 7 cDNA and identification of polymorphic markers. Hum Mol Genet. 1992;1:407-10 pubmed
    ..Evidence for linkage disequilibrium was found with markers tested. These results place the human HOX 7 gene in a defined position on 4p. ..
  5. Vastardis H, Karimbux N, Guthua S, Seidman J, Seidman C. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet. 1996;13:417-21 pubmed
    We demonstrate that a mutation in the homeobox gene, MSX1, causes a common developmental anomaly, familial tooth agenesis...
  6. Mostowska A, Biedziak B, Jagodzinski P. Novel MSX1 mutation in a family with autosomal-dominant hypodontia of second premolars and third molars. Arch Oral Biol. 2012;57:790-5 pubmed publisher
    ..Direct sequencing of the coding regions including exon-intron boundaries of the MSX1 and PAX9 genes was performed in all affected family members...
  7. Zhang H, Hu G, Wang H, Sciavolino P, Iler N, Shen M, et al. Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism. Mol Cell Biol. 1997;17:2920-32 pubmed
    ..Finally, we show that the expression patterns of representative Msx and Dlx genes (Msx1, Msx2, Dlx2, and Dlx5) overlap in mouse embryogenesis during limb bud and craniofacial development, consistent with ..
  8. van den Boogaard M, Dorland M, Beemer F, van Amstel H. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet. 2000;24:342-3 pubmed
  9. Lee H, Quinn J, Prasanth K, Swiss V, Economides K, Camacho M, et al. PIAS1 confers DNA-binding specificity on the Msx1 homeoprotein. Genes Dev. 2006;20:784-94 pubmed
    ..Here we report that PIAS1 confers DNA-binding specificity on the Msx1 homeoprotein by regulating its subnuclear localization and proximity to target genes...

More Information

Publications93

  1. Lidral A, Reising B. The role of MSX1 in human tooth agenesis. J Dent Res. 2002;81:274-8 pubmed
    b>MSX1 has a critical role in craniofacial development, as indicated by expression assays and transgenic mouse phenotypes. Previously, MSX1 mutations have been identified in three families with autosomal-dominant tooth agenesis...
  2. Beaty T, Hetmanski J, Zeiger J, Fan Y, Liang K, VanderKolk C, et al. Testing candidate genes for non-syndromic oral clefts using a case-parent trio design. Genet Epidemiol. 2002;22:1-11 pubmed
    ..Markers at two of the five candidate genes, transforming growth factor beta3 (TGFbeta3) and MSX1, showed consistent evidence of linkage and disequilibrium due to linkage using several statistical tests (e.g...
  3. Park J, Park B, Kim H, Lee J, Suh I, Nam C, et al. MSX1 polymorphism associated with risk of oral cleft in Korea: evidence from case-parent trio and case-control studies. Yonsei Med J. 2007;48:101-8 pubmed
    ..We performed case-parent trio and case- control studies on 6 single nucleotide polymorphisms (SNPs) in the MSX1 gene using a sample of 52 CL/P and CP probands from Korea...
  4. Jezewski P, Vieira A, Nishimura C, Ludwig B, Johnson M, O Brien S, et al. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet. 2003;40:399-407 pubmed
    b>MSX1 has been proposed as a gene in which mutations may contribute to non-syndromic forms of cleft lip and/or cleft palate...
  5. De Muynck S, Schollen E, Matthijs G, Verdonck A, Devriendt K, Carels C. A novel MSX1 mutation in hypodontia. Am J Med Genet A. 2004;128A:401-3 pubmed
    b>MSX1 mutations have been reported in four unrelated families with autosomal dominant tooth agenesis. In one family, some individuals also had cleft lip and/or palate...
  6. Suazo J, Santos J, Carreno H, Jara L, Blanco R. Linkage disequilibrium between MSX1 and non-syndromic cleft lip/palate in the Chilean population. J Dent Res. 2004;83:782-5 pubmed
    ..for this study; from these, we used unrelated trios to evaluate the possible linkage disequilibrium between MSX1 and NSCLP. An intragenic marker, MSX1-CA, and an extragenic marker, D4S432 at a distance of 0...
  7. Wu P, Li Y, Fan G, Wang K. [Association study on microsatellite polymorphisms of MSX1 gene and nonsyndromic cleft lip and palate]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007;24:325-7 pubmed
    To investigate muscle segment homeobox 1 (MSX1) microsatellite marker distribution and the relationship between MSX1 gene and the genetic susceptibility of nonsyndromic cleft lip and palate (NSCLP) in Hunan Hans...
  8. Ingersoll R, Hetmanski J, Park J, Fallin M, McIntosh I, Wu Chou Y, et al. Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations. Eur J Hum Genet. 2010;18:726-32 pubmed publisher
    ..Several candidate gene studies on MSX1 have shown significant association between markers in MSX1 and risk of oral clefts, and re-sequencing studies have ..
  9. Liang J, Zhu L, Meng L, Chen D, Bian Z. Novel nonsense mutation in MSX1 causes tooth agenesis with cleft lip in a Chinese family. Eur J Oral Sci. 2012;120:278-82 pubmed publisher
    ..Previous studies have attributed non-syndromic tooth agenesis to mutations in several genes, including MSX1, PAX9, EDA, and AXIN2. In this study, we investigated a Chinese family with tooth agenesis combined with cleft lip...
  10. Singh V, Ramu D. Association of MSX1 799?G>T variant with nonsyndromic cleft lip/palate in South Indian adolescent patients. Int J Paediatr Dent. 2012;22:228-31 pubmed publisher
    ..The purpose of this study was to test whether MSX1 (799?G>T) gene variant was involved in the aetiology of NSCLP...
  11. Huang Y, Ma J, Ma M, Deng Y, Li Y, Ren H, et al. Association between MSX1 variants and oral clefts in Han Chinese in western China. DNA Cell Biol. 2011;30:1057-61 pubmed publisher
    Previous animal and association studies have shown that the MSX1 gene is associated with oral clefts. Our aim was to investigate association between variants in the MSX1 gene and oral clefts in a Han Chinese population...
  12. Jugessur A, Lie R, Wilcox A, Murray J, Taylor J, Saugstad O, et al. Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: a case-parent triad analysis. Genet Epidemiol. 2003;24:230-9 pubmed
    ..population-based study of orofacial clefts in Norway, and examined variants of developmental genes TGFA, TGFB3, and MSX1 in the etiology of orofacial clefts...
  13. Vieira A, Orioli I, Castilla E, Cooper M, Marazita M, Murray J. MSX1 and TGFB3 contribute to clefting in South America. J Dent Res. 2003;82:289-92 pubmed
    b>MSX1 and TGFB3 have been proposed as genes in which mutations may contribute to non-syndromic forms of oral clefts; however, an interaction between these genes has not been described...
  14. Kamamoto M, Machida J, Yamaguchi S, Kimura M, Ono T, Jezewski P, et al. Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia. Eur J Hum Genet. 2011;19:844-50 pubmed publisher
    Multiple previous reports confirm that several missense alleles of MSX1 exhibit Mendelian inheritance of an oligodontia phenotype (agenesis of more than six secondary teeth besides third molars)...
  15. Cardoso M, Bezerra J, Oliveira G, Soares C, Oliveira S, de Souza K, et al. MSX1 gene polymorphisms in non-syndromic cleft lip and/or palate. Oral Dis. 2013;19:507-12 pubmed publisher
    The aim of this study was to investigate the contribution of 6 polymorphic variants of the MSX1 gene in non-syndromic cleft lip and/or palate (NSCL/P)...
  16. Tongkobpetch S, Siriwan P, Shotelersuk V. MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population. J Hum Genet. 2006;51:671-6 pubmed
    Previous studies observed that MSX1 mutations could contribute to nonsyndromic cleft lip with or without cleft palate (CL/P) in some populations...
  17. Jumlongras D, Bei M, Stimson J, Wang W, DePalma S, Seidman C, et al. A nonsense mutation in MSX1 causes Witkop syndrome. Am J Hum Genet. 2001;69:67-74 pubmed
    ..We found linkage between TNS and polymorphic markers surrounding the MSX1 locus...
  18. Han J, Ishii M, Bringas P, Maas R, Maxson R, Chai Y. Concerted action of Msx1 and Msx2 in regulating cranial neural crest cell differentiation during frontal bone development. Mech Dev. 2007;124:729-45 pubmed
    The homeobox genes Msx1 and Msx2 function as transcriptional regulators that control cellular proliferation and differentiation during embryonic development...
  19. Otero L, Gutierrez S, Chaves M, Vargas C, Bermudez L. Association of MSX1 with nonsyndromic cleft lip and palate in a Colombian population. Cleft Palate Craniofac J. 2007;44:653-6 pubmed publisher
    To evaluate the association between MSX1 CA polymorphism and nonsyndromic cleft lip with or without cleft palate (CL+/-P) in a group of patients from Operation Smile Colombia...
  20. Blanco R, Chakraborty R, Barton S, Carreno H, Paredes M, Jara L, et al. Evidence of a sex-dependent association between the MSX1 locus and nonsyndromic cleft lip with or without cleft palate in the Chilean population. Hum Biol. 2001;73:81-9 pubmed
    ..an involvement of the Msx1 homeobox gene in cleft palate in mice and its homolog in humans (called MSX1 in the HOX7 gene, located on chromosome 4)...
  21. Mitchell L, Murray J, O BRIEN S, Christensen K. Evaluation of two putative susceptibility loci for oral clefts in the Danish population. Am J Epidemiol. 2001;153:1007-15 pubmed
    ..present study evaluated potential associations between CL+/-P and CP and two putative clefting susceptibility loci, MSX1 and TGFB3, using data from a nationwide case-control study conducted in Denmark from 1991 to 1994...
  22. Sajan S, Rubenstein J, Warchol M, Lovett M. Identification of direct downstream targets of Dlx5 during early inner ear development. Hum Mol Genet. 2011;20:1262-73 pubmed publisher
    ..using a Dlx5 antibody confirmed direct binding of Dlx5 to promoters of seven of these (Atbf1, Bmper, Large, Lrrtm1, Msx1, Ebf1 and Lhx1) in a cell line over-expressing Dlx5...
  23. Mimura S, Suga M, Okada K, Kinehara M, Nikawa H, Furue M. Bone morphogenetic protein 4 promotes craniofacial neural crest induction from human pluripotent stem cells. Int J Dev Biol. 2016;60:21-8 pubmed publisher
    ..growth factor-2 and Wnt3a from day 8 after NC specification induced the expression of cranial NC markers, AP2alpha, MSX1, and DLX1, during NC cell differentiation from human pluripotent stem cells...
  24. Harryman W, Gard J, Pond K, Simpson S, Heppner L, Hernandez Cortes D, et al. Targeting the Cohesive Cluster Phenotype in Chordoma via ?1 Integrin Increases Ionizing Radiation Efficacy. Neoplasia. 2017;19:919-927 pubmed publisher
    ..Conversely, both tumor cell lines were uniformly defective in pATM response. HYD1, a synthetic ECM ligand, inhibited DDR through an unresolved ?H2AX response...
  25. Vieux Rochas M, Bouhali K, Mantero S, Garaffo G, Provero P, Astigiano S, et al. BMP-mediated functional cooperation between Dlx5;Dlx6 and Msx1;Msx2 during mammalian limb development. PLoS ONE. 2013;8:e51700 pubmed publisher
    ..The combined disruption of Msx1 and Msx2, as well as that of Dlx5 and Dlx6, lead to limb patterning defects with anomalies in digit number and ..
  26. Xuan K, Jin F, Liu Y, Yuan L, Wen L, Yang F, et al. Identification of a novel missense mutation of MSX1 gene in Chinese family with autosomal-dominant oligodontia. Arch Oral Biol. 2008;53:773-9 pubmed publisher
    ..poorly understood, but in recent years some cases have been reported where mutations or polymorphisms of PAX9 and MSX1 had been associated with non-syndromic oligodontia...
  27. Qin H, Xu H, Xuan K. Clinical and genetic evaluation of a Chinese family with isolated oligodontia. Arch Oral Biol. 2013;58:1180-6 pubmed publisher
    ..more than 300 genes have been found to be involved in tooth development, but only a few of these genes, such as MSX1, PAX9 and AXIN2, are related to the condition of non-syndromic oligodontia...
  28. Lopez S, Mundstock K, Paixão Côrtes V, Schuler Faccini L, Mundstock C, Bortolini M, et al. MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis. Twin Res Hum Genet. 2013;16:1112-6 pubmed publisher
    ..We studied the DNA of two genes, paired domain box gene 9 (PAX9) and muscle segment homeodomain-homeobox1 (MSX1), encoding transcription factors that earlier studies found were involved in the manifestation of this condition...
  29. Reddy N, Gopinath A, Reddy J, Devanna R, Saravanan P, Rohra M. MSX ? gene variant and non-syndromic clefting: association or rejection?. Indian J Dent Res. 2014;25:45-9 pubmed publisher
    ..From a genetically diverse etiology MSX 1 799 G >T gene variant may be a good screening marker for NSCL/P in Raichur patients. ..
  30. Li F, Han Y, Shi S, Li X, Zhu X, Zhou J, et al. Characterization of Transcriptional Repressor Gene MSX1 Variations for Possible Associations with Congenital Heart Diseases. PLoS ONE. 2015;10:e0142666 pubmed publisher
    ..The aim of this work was to evaluate variations in MSX1 and MSX2 for their possible associations with CHD...
  31. Deng H, Zhu S, Le W, Yang H, Lv H, Xu H, et al. Examination of the MSX1 gene in patients with Parkinson's disease. Acta Neurol Scand. 2009;120:442-4 pubmed publisher
    ..The muscle segment homeobox drosophila homolog of 1 gene (MSX1) is a major upstream regulator of the dopaminergic neuronal subtype specification...
  32. Song Y, Lee H. YB1/p32, a nuclear Y-box binding protein 1, is a novel regulator of myoblast differentiation that interacts with Msx1 homeoprotein. Exp Cell Res. 2010;316:517-29 pubmed publisher
    ..b>Msx1 is a member of the homeoprotein family implicated in these processes, which inhibits the differentiation of ..
  33. Sun X, Park C, Deng W, Potter S, Dey S. Uterine inactivation of muscle segment homeobox (Msx) genes alters epithelial cell junction proteins during embryo implantation. FASEB J. 2016;30:1425-35 pubmed publisher
    ..We recently found that mice with uterine deletion ofMsxgenes (Msx1(d/d)/Msx2(d/d)) are infertile because of implantation failure associated with heightened apicobasal polarity of ..
  34. Peck S, Peck L, Kataja M. Concomitant occurrence of canine malposition and tooth agenesis: evidence of orofacial genetic fields. Am J Orthod Dentofacial Orthop. 2002;122:657-60 pubmed
    ..new clinical findings with results from recent molecular studies, we suggest that transcription factors such as MSX1 and PAX9, which have been associated with agenesis of molars, might be involved in the genetic control of Mn.I2...
  35. de Araujo T, Secolin R, Félix T, de Souza L, Fontes M, Monlleó I, et al. A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population. J Craniomaxillofac Surg. 2016;44:16-20 pubmed publisher
    ..Twenty-four SNPs in 16 genes were significantly associated with the etiology of NSCLP, including MSX1, SPRY1, MSX2, PRSS35, TFAP2A, SHH, VAX1, TBX10, WNT11, PAX9, BMP4, JAG2, AXIN2, DVL2, KIF7, and TCBE3...
  36. Chen L, Hu M, Xu Z, Liu Y, Shu H. MSX1 Modulates RLR-Mediated Innate Antiviral Signaling by Facilitating Assembly of TBK1-Associated Complexes. J Immunol. 2016;197:199-207 pubmed publisher
    ..In this study, we identified muscle segment homeobox1 (MSX1) as an important modulator of RLR-mediated signaling pathways...
  37. Jia S, Kwon H, Lan Y, Zhou J, Liu H, Jiang R. Bmp4-Msx1 signaling and Osr2 control tooth organogenesis through antagonistic regulation of secreted Wnt antagonists. Dev Biol. 2016;420:110-119 pubmed publisher
    Mutations in MSX1 cause craniofacial developmental defects, including tooth agenesis, in humans and mice. Previous studies suggest that Msx1 activates Bmp4 expression in the developing tooth mesenchyme to drive early tooth organogenesis...
  38. Yuan Q, Zhao M, Tandon B, Maili L, Liu X, Zhang A, et al. Role of WNT10A in failure of tooth development in humans and zebrafish. Mol Genet Genomic Med. 2017;5:730-741 pubmed publisher
    ..levels of additional tooth development genes were directly correlated with wnt10a expression; expression of msx1, dlx2b, eda, and axin2 was decreased upon wnt10a knockdown, and increased upon wnt10a overexpression...
  39. Robert B, Sassoon D, Jacq B, Gehring W, Buckingham M. Hox-7, a mouse homeobox gene with a novel pattern of expression during embryogenesis. EMBO J. 1989;8:91-100 pubmed
    ..The pronounced accumulation and regional localization of Hox-7 transcripts in mandibular and limb processes point to a specific morphogenetic role for this mouse homeobox gene. ..
  40. Zhang H, Catron K, Abate Shen C. A role for the Msx-1 homeodomain in transcriptional regulation: residues in the N-terminal arm mediate TATA binding protein interaction and transcriptional repression. Proc Natl Acad Sci U S A. 1996;93:1764-9 pubmed
  41. Rave Harel N, Miller N, Givens M, Mellon P. The Groucho-related gene family regulates the gonadotropin-releasing hormone gene through interaction with the homeodomain proteins MSX1 and OCT1. J Biol Chem. 2005;280:30975-83 pubmed
    ..Furthermore, GRG proteins interact with two regulators of GnRH transcription, the homeodomain proteins MSX1 and OCT1. Co-transfection experiments indicate that GRG proteins regulate GnRH promoter activity...
  42. Ivens A, Flavin N, Williamson R, Dixon M, Bates G, Buckingham M, et al. The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome. Hum Genet. 1990;84:473-6 pubmed
    A cosmid containing the human sequence (HOX7) homologous to the mouse homeogene Hox-7 was isolated from a genomic cosmid library. There is only one highly conserved homologous gene in the human genome...
  43. Hashmi B, Mammoto T, Weaver J, Ferrante T, Jiang A, Jiang E, et al. Mechanical induction of dentin-like differentiation by adult mouse bone marrow stromal cells using compressive scaffolds. Stem Cell Res. 2017;24:55-60 pubmed publisher
    ..expression of critical markers of tooth differentiation in vitro, including the key transcription factors Pax9 and Msx1. Implantation under the kidney capsule of contracting scaffolds bearing these cells in mice also resulted in local ..
  44. Amri N, Djolé S, Petit S, Babajko S, Coudert A, Castaneda B, et al. Distorted Patterns of Dentinogenesis and Eruption in Msx2 Null Mutants: Involvement of Sost/Sclerostin. Am J Pathol. 2016;186:2577-87 pubmed publisher
    The muscle segment homeogenes Msx1 and Msx2 play a major role in tooth and bone formation...
  45. Bendall A, Rincon Limas D, Botas J, Abate Shen C. Protein complex formation between Msx1 and Lhx2 homeoproteins is incompatible with DNA binding activity. Differentiation. 1998;63:151-7 pubmed
    ..Here we show that Lhx2, a LIM-type homeoprotein, is a protein partner for Msx1 in vitro and in cellular extracts...
  46. Gaczkowska A, Abdalla E, Dowidar K, Elhady G, Jagodzinski P, Mostowska A. De novo EDA mutations: Variable expression in two Egyptian families. Arch Oral Biol. 2016;68:21-8 pubmed publisher
    ..Direct sequencing of the coding regions including exon-intron boundaries of EDA, MSX1, PAX9, WNT10A and EDAR was performed in probands and their available family members...
  47. Fritsch M, Wollesen T, de Oliveira A, Wanninger A. Unexpected co-linearity of Hox gene expression in an aculiferan mollusk. BMC Evol Biol. 2015;15:151 pubmed publisher
    ..In A. crinita the Hox genes Acr-Hox1-5, Hox7 and Post2 are expressed in a co-linear pattern along the antero-posterior axis, but not in molluscan-specific ..
  48. Pawlowska E, Janik Papis K, Wisniewska Jarosinska M, Szczepanska J, Blasiak J. Mutations in the human homeobox MSX1 gene in the congenital lack of permanent teeth. Tohoku J Exp Med. 2009;217:307-12 pubmed
    ..Tooth genesis depends on the complex interactions between environmental and genetic factors. The MSX1 gene, a member of homeobox gene family, encodes a DNA-binding protein, which is involved in many epithelial-..
  49. Nagel S, Ehrentraut S, Meyer C, Kaufmann M, Drexler H, MacLeod R. Aberrantly Expressed OTX Homeobox Genes Deregulate B-Cell Differentiation in Hodgkin Lymphoma. PLoS ONE. 2015;10:e0138416 pubmed publisher
    In Hodgkin lymphoma (HL) we recently reported that deregulated homeobox gene MSX1 mediates repression of the B-cell specific transcription factor ZHX2. In this study we investigated regulation of MSX1 in this B-cell malignancy...
  50. Farzanehfar P, Horne M, Aumann T. Can Valproic Acid Regulate Neurogenesis from Nestin+ Cells in the Adult Midbrain?. Neurochem Res. 2017;42:2127-2134 pubmed publisher
    ..study, we conducted bioinformatics analyses to identify signalling pathways that control expression of Pax6 and Msx1 genes, which have been identified as potentially important neurogenic regulators in the adult midbrain...
  51. Seo Y, Park J, Kim Y, Baek S. Associations between the risk of tooth agenesis and single-nucleotide polymorphisms of MSX1 and PAX9 genes in nonsyndromic cleft patients. Angle Orthod. 2013;83:1036-42 pubmed publisher
    To investigate the association between the risk of tooth agenesis and single-nucleotide polymorphisms (SNPs) of MSX1 and PAX9 genes in nonsyndromic cleft patients. The subjects were 126 Korean nonsyndromic cleft patients...
  52. Mostowska A, Hozyasz K, Wojcicki P, Biedziak B, Paradowska P, Jagodzinski P. Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population. Birth Defects Res A Clin Mol Teratol. 2010;88:538-45 pubmed publisher
    ..We performed an analysis of 18 polymorphisms of FOXE1, IRF6, MSX1, PAX9, TBX10, FGF10, FGFR1, TGFalpha, TGFbeta3, SUMO1, and the chromosomal region 8q24 in a group of 175 patients ..
  53. Boeira Junior B, Echeverrigaray S. Polymorphism in the MSX1 gene in a family with upper lateral incisor agenesis. Arch Oral Biol. 2012;57:1423-8 pubmed publisher
    The MSX1 gene plays a key role in odontogenesis regulation, particularly during early stages...
  54. Chetcuti A, Aktas S, Mackie N, Ulger C, Toruner G, Alkan M, et al. Expression profiling reveals MSX1 and EphB2 expression correlates with the invasion capacity of Wilms tumors. Pediatr Blood Cancer. 2011;57:950-7 pubmed publisher
    ..Immunohistochemical analysis was performed on 25 Wilms tumor cases to confirm expression for Bcl2A1, EphB2, MSX1, and RIN1. Using microarray analysis 14 genes showed differential expression (P < 0...
  55. Kantaputra P, Kapoor S, Verma P, Kaewgahya M, Kawasaki K, Ohazama A, et al. Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation. Eur J Med Genet. 2017;60:695-700 pubmed publisher
    ..of the patient and his parents ruled out mutations in 11 known hypodontia-associated genes including WNT10A, MSX1, EDA, EDAR, EDARADD, PAX9, AXIN2, GREM2, NEMO, KRT17, and TFAP2B...
  56. Paixão Côrtes V, Braga T, Salzano F, Mundstock K, Mundstock C, Bortolini M. PAX9 and MSX1 transcription factor genes in non-syndromic dental agenesis. Arch Oral Biol. 2011;56:337-44 pubmed publisher
    ..we also decided to examine the influence of another transcription factor, muscle segment homeodomain-homeobox 1 (MSX1) on it...
  57. Wattanarat O, Kantaputra P. Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations. Am J Med Genet A. 2016;170A:254-9 pubmed publisher
    We report two novel heterozygous missense MSX1 mutations in two Thai families (c.739C>T; p.Pro247Ser and c.607G>A; p.Ala203Thr). The p...
  58. Ibarra Arce A, Albavera Giles T, Zavaleta Villa B, Ortiz de Zárate Alarcón G, Flores Peña L, Sierra Romero M, et al. MSX1 gene polymorphisms in Mexican patients with non-syndromic cleft lip/palate. Int J Pediatr Otorhinolaryngol. 2016;90:119-124 pubmed publisher
    ..Mutations in the MSX1 gene are critical during craniofacial development...
  59. Wang H, Wang L, Pan Y, Ma J, Zhang W. [Msh homebox-1 polymorphisms and susceptibility to 198 sporadic tooth agenesis: a case-control study]. Zhonghua Kou Qiang Yi Xue Za Zhi. 2010;45:135-40 pubmed
    ..The haplotypes constructed with these 2 SNP sites may be linked with the susceptibility gene of non-mandibular incisor agenesis. ..
  60. Wehrhan F, Hyckel P, Ries J, Stockmann P, Nkenke E, Schlegel K, et al. Expression of Msx-1 is suppressed in bisphosphonate associated osteonecrosis related jaw tissue-etiopathology considerations respecting jaw developmental biology-related unique features. J Transl Med. 2010;8:96 pubmed publisher
    ..Further research on developmental biology-related unique features of jaw bone structures will help to elucidate pathologies restricted to maxillofacial tissue. ..
  61. Haddaji Mastouri M, De Coster P, Zaghabani A, Jammali F, Raouahi N, Ben Salem A, et al. Genetic study of non-syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case-series. Eur J Oral Sci. 2018;126:24-32 pubmed publisher
    ..We focused on four genes - paired box 9 (PAX9), Wnt family member 10A (WNT10A), msh homeobox 1 (MSX1), and axin 2 (AXIN2) - using direct Sanger sequencing of the exons and intron-exon boundaries...
  62. Gupta P, Chaturvedi T, Sharma V. Expressional Analysis of MSX1 (Human) Revealed its Role in Sagittal Jaw Relationship. J Clin Diagn Res. 2017;11:ZC71-ZC77 pubmed publisher
    ..Abnormal skeletal jaw relationships is an important factor causing difficulty in speech, mastication, sleep and social interaction, thus affect the overall well being of an individual...
  63. Daw E, Saliba C, Grech G, Camilleri S. A novel PAX9 mutation causing oligodontia. Arch Oral Biol. 2017;84:100-105 pubmed publisher
    ..presenting with several members affected by developmentally missing teeth was investigated by analysis of the MSX1 and PAX9 genes. Saliva samples were collected and DNA extracted...
  64. Guerrero Flores G, Bastidas Ponce A, Collazo Navarrete O, Guerra Crespo M, Covarrubias L. Functional determination of the differentiation potential of ventral mesencephalic neural precursor cells during dopaminergic neurogenesis. Dev Biol. 2017;429:56-70 pubmed publisher
    ..g., Lmx1a, Foxa2, Msx1/2)...
  65. Wong S, Liu H, Han D, Chang H, Zhao H, Wang Y, et al. A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia. Mutagenesis. 2014;29:319-23 pubmed publisher
    ..Msh homeobox 1 (MSX1) was the first gene identified as causing non-syndromic oligodontia...
  66. Zhang W, Qu H, Zhang Y. Association of MSX1 and TGF-β1 genetic polymorphisms with hypodontia: meta-analysis. Genet Mol Res. 2014;13:10007-16 pubmed publisher
    ..meta-analysis of 4 case-control studies to explore the association between polymorphisms of Msh homeobox 1 (MSX1) and transforming growth factor-β1 (TGF-β1) genes and hypodontia...
  67. Seifi M, Kazemi B, Golkar P. The role of MSX1 in tooth agenesis in Iranians. Int J Paediatr Dent. 2007;17:254-8 pubmed
    b>MSX1 gene has a critical role in craniofacial development, the aim of this case-control study is to test the hypothesis that MSX1 mutation contributes to congenital tooth agenesis in Iranians...
  68. Doi T, Puri P, Bannigan J, Thompson J. Msx1 and Msx2 gene expression is downregulated in the cadmium-induced omphalocele in the chick model. J Pediatr Surg. 2010;45:1187-91 pubmed publisher
    ..The molecular mechanism by which Cd acts still remains unclear. Msx1 and Msx2 are expressed in the developing body wall and regulate cellular proliferation and differentiation...
  69. Song Y, Lee H. PIAS1 negatively regulates ubiquitination of Msx1 homeoprotein independent of its SUMO ligase activity. Mol Cells. 2011;32:221-6 pubmed publisher
    ..Here we report that PIAS1 negatively regulates ubiquitination of Msx1 homeoprotein, a regulator of myogenic differentiation, in a SUMO-independent manner...
  70. Kachhap S, Singh B. Role of DNA conformation & energetic insights in Msx-1-DNA recognition as revealed by molecular dynamics studies on specific and nonspecific complexes. J Biomol Struct Dyn. 2015;33:2069-82 pubmed publisher
    ..The changes in amino acid sequence of protein are accommodated and stabilized around TAAT core region of DNA having variation in nucleotides. ..
  71. Djousse L, Knowlton B, Hayden M, Almqvist E, Brinkman R, Ross C, et al. Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16. Neurogenetics. 2004;5:109-14 pubmed
    ..cohort and the HD MAPS cohort to assess whether AO was influenced by any of the three markers in the 4p16 region: MSX1 (Drosophila homeo box homologue 1, formerly known as homeo box 7, HOX7), Delta2642 (within the HD coding sequence), ..
  72. Dey A, Farzanehfar P, Gazina E, Aumann T. Electrophysiological and gene expression characterization of the ontogeny of nestin-expressing cells in the adult mouse midbrain. Stem Cell Res. 2017;23:143-153 pubmed publisher
    ..also differentiated from eYFP- cells by increased expression of 'immature' pro-neuronal genes (Pax6, Ngn2 and/or Msx1)...
  73. Mues G, Kapadia H, Wang Y, D Souza R. Genetics and human malformations. J Craniofac Surg. 2009;20 Suppl 2:1652-4 pubmed publisher
    ..In this report, we briefly review the roles of the PAX9, MSX1, AXIN2, and EDA genes in the causation of congenital tooth agenesis and the promise of molecular genetic research ..
  74. Pinho T, Silva Fernandes A, Bousbaa H, Maciel P. Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis. Eur J Orthod. 2010;32:582-8 pubmed publisher
    ..The aim of this study was to search for mutations in the PAX9 and MSX1 genes and to investigate their potential association with the maxillary lateral incisor agenesis (MLIA) phenotype ..
  75. Menezes M, Mitra A, Shevde L, Samant R. DNAJB6 governs a novel regulatory loop determining Wnt/?-catenin signalling activity. Biochem J. 2012;444:573-80 pubmed publisher
    ..for its up-regulation by DNAJB6 revealed the presence of two binding sites for a transcriptional repressor, MSX1 (muscle segment homeobox 1)...
  76. Park K, Kim K, Rho S, Choi K, Kim D, Oh S, et al. Homeobox Msx1 interacts with p53 tumor suppressor and inhibits tumor growth by inducing apoptosis. Cancer Res. 2005;65:749-57 pubmed
    ..Here, we identify homeobox Msx1 as a p53-interacting protein and show its novel function as a p53 regulator...
  77. Slayton R, Williams L, Murray J, Wheeler J, Lidral A, Nishimura C. Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region. Cleft Palate Craniofac J. 2003;40:274-9 pubmed
    ..hypodontia outside the cleft region (compared with noncleft controls) and both muscle segment homeo box homolog 1 (MSX1) (p =.029) and transforming growth factor beta 3 (TGFB3) (p =.024)...
  78. Yang Q, Wang J, Li Z. [Differentially expressed genes between the human mandible- and ilium- derived mesenchymal cells]. Shanghai Kou Qiang Yi Xue. 2017;26:180-183 pubmed
    ..After the analysis from Gene MANIA database, the molecular networks of MSX1, MSX2, HAND2, SIX1, PITX2, OSR2, PAX3 and PRRX1 were built to show that these eight genes exhibited interactions, ..
  79. Bergendal B, Klar J, Stecksen Blicks C, Norderyd J, Dahl N. Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes. Am J Med Genet A. 2011;155A:1616-22 pubmed publisher
    ..lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes...
  80. Kero D, Vukojevic K, Stazic P, Sundov D, Mardesic Brakus S, Saraga Babic M. Regulation of proliferation in developing human tooth germs by MSX homeodomain proteins and cyclin-dependent kinase inhibitor p19INK4d. Organogenesis. 2017;13:141-155 pubmed publisher
    ..Expression domains of genes encoding for murine Msx1/2 during development are observed in tissues containing highly proliferative progenitor cells...
  81. Sliwinski T, Synowiec E, Czarny P, Gomulak P, Forma E, Morawiec Z, et al. The c.469+46_56del mutation in the homeobox MSX1 gene--a novel risk factor in breast cancer?. Cancer Epidemiol. 2010;34:652-5 pubmed publisher
    ..469+46_56del mutation, in the intron of the homeobox MSX1 gene and breast cancer occurrence and characteristics...
  82. Suazo J, Santos J, Jara L, Blanco R. Parent-of-origin effects for MSX1 in a Chilean population with nonsyndromic cleft lip/palate. Am J Med Genet A. 2010;152A:2011-6 pubmed publisher
    Based on association and sequencing studies, investigators have postulated muscle segment homeobox 1 (MSX1) as a strong candidate gene involved in the causation of nonsyndromic cleft lip with or without cleft palate (NSCLP)...
  83. Mehra Chaudhary R, Matsui H, Raghow R. Msx3 protein recruits histone deacetylase to down-regulate the Msx1 promoter. Biochem J. 2001;353:13-22 pubmed
    b>Msx1 promoter is known to be repressed by Msx1 protein [Shetty, Takahashi, Matsui, Iyengar and Raghow (1999) Biochem. J. 339, 751-758]...
  84. Souza L, Kowalski T, Collares M, Felix T. MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population. Braz J Med Biol Res. 2013;46:555-8 pubmed publisher
    ..For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting...