메뉴 건너뛰기




Volumn 132, Issue 7, 2004, Pages 816-822

Mutational analysis of the muscle segment homeobox gene 1 (MSX1) in Chilean patients with cleft lip/palate;Análisis mutacional del gen homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales

Author keywords

Abnormalities, multiple; Cleft lip; Genome library; MSX1 gene; Mutation, missense

Indexed keywords

HOMEODOMAIN PROTEIN; MUSCLE SEGMENT HOMEOBOX PROTEIN 1; UNCLASSIFIED DRUG;

EID: 12344300197     PISSN: 00349887     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (8)

References (40)
  • 1
    • 0029862074 scopus 로고    scopus 로고
    • Heterogeneous rates for birth defects in Latin America: Hints on causality
    • LÓPEZ-CAMELO JS, ORIOLI IM. Heterogeneous rates for birth defects in Latin America: hints on causality. Genet Epidemiol 1996; 13: 469-81.
    • (1996) Genet Epidemiol , vol.13 , pp. 469-481
    • López-Camelo, J.S.1    Orioli, I.M.2
  • 2
    • 0035292168 scopus 로고    scopus 로고
    • Incidencia de labio leporino y paladar hendido en la maternidad del Hospital Clínico de la Universidad de Chile y en las maternidades chilenas participantes en el Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC) período 1991-1999
    • NAZER H, HÜBNER G, CATALÁN M, CIFUENTES O. Incidencia de labio leporino y paladar hendido en la maternidad del Hospital Clínico de la Universidad de Chile y en las maternidades chilenas participantes en el Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC) período 1991-1999 - Rev Méd Chile 2001; 129: 285-93.
    • (2001) Rev Méd Chile , vol.129 , pp. 285-293
    • Nazer, H.1    Hübner, G.2    Catalán, M.3    Cifuentes, O.4
  • 3
    • 0027700818 scopus 로고
    • Evidencia de un gen mayor en la susceptibilidad a la fisura labiopalatina mediante análisis segregacional en la población chilena
    • BLANCO R, PALOMINO H, RAMEAU MX, IÑÍGUEZ RUIZ A, JARA L. Evidencia de un gen mayor en la susceptibilidad a la fisura labiopalatina mediante análisis segregacional en la población chilena. Rev Méd Chile 1993; 121: 1258-68.
    • (1993) Rev Méd Chile , vol.121 , pp. 1258-1268
    • Blanco, R.1    Palomino, H.2    Rameau, M.X.3    Iñíguez Ruiz, A.4    Jara, L.5
  • 5
    • 0031752525 scopus 로고    scopus 로고
    • Complex segregation analysis of nonsyndromic cleft lip/palate in a Chilean population
    • BLANCO R, ARCOS-BURGOS M, PAREDES M, PALOMINO H, JARA L, CARREÑO ET AL. Complex segregation analysis of nonsyndromic cleft lip/palate in a Chilean population. Genet Mol Biol 1998; 21: 139-44.
    • (1998) Genet Mol Biol , vol.21 , pp. 139-144
    • Blanco, R.1    Arcos-Burgos, M.2    Paredes, M.3    Palomino, H.4    Jara, L.5    Carreño6
  • 6
    • 0034151427 scopus 로고    scopus 로고
    • Recurrencia familiar de labio leporino con o sin fisura velopalatina de origen no sindrómico en poblaciones de Chile
    • PALOMINO H, GUZMÁN E, BLANCO R. Recurrencia familiar de labio leporino con o sin fisura velopalatina de origen no sindrómico en poblaciones de Chile. Rev Méd Chile 2000; 128: 286-93.
    • (2000) Rev Méd Chile , vol.128 , pp. 286-293
    • Palomino, H.1    Guzmán, E.2    Blanco, R.3
  • 8
    • 0027573783 scopus 로고
    • Fisura labiopalatina en población chilena: Asociación con polimorfismo BamH1 del gen factor transformante del crecimiento alfa (TGFA)
    • JARA L, BLANCO R, CHIFFELLE I, PALOMINO H, CURTIS D. Fisura labiopalatina en población chilena: asociación con polimorfismo BamH1 del gen factor transformante del crecimiento alfa (TGFA). Rev Méd Chile 1993; 121: 390-5.
    • (1993) Rev Méd Chile , vol.121 , pp. 390-395
    • Jara, L.1    Blanco, R.2    Chiffelle, I.3    Palomino, H.4    Curtis, D.5
  • 9
    • 0029043080 scopus 로고
    • Association between alleles of the transforming growth factor alpha locus and cleft lip and palate in the Chilean population
    • JARA L, BLANCO R, CHIFFELLE I, PALOMINO H, CARREÑO H. Association between alleles of the transforming growth factor alpha locus and cleft lip and palate in the Chilean population. Am J Med Genet 1995; 57: 548-51.
    • (1995) Am J Med Genet , vol.57 , pp. 548-551
    • Jara, L.1    Blanco, R.2    Chiffelle, I.3    Palomino, H.4    Carreño, H.5
  • 10
    • 0028852485 scopus 로고
    • Evidence for an association between RFLPs at the transforming growth factor alpha (locus) and nonsyndromic cleft lip/palate in a South American population
    • JARA L, BLANCO R, CHIFFELLE I, PALOMINO H, CARREÑO H. Evidence for an association between RFLPs at the transforming growth factor alpha (locus) and nonsyndromic cleft lip/palate in a South American population. Am J Hum Genet 1995; 56: 339-41.
    • (1995) Am J Hum Genet , vol.56 , pp. 339-341
    • Jara, L.1    Blanco, R.2    Chiffelle, I.3    Palomino, H.4    Carreño, H.5
  • 11
    • 3643120541 scopus 로고    scopus 로고
    • Cleft lip/palate: Allele frequencies of MSX-1, TGFA and D17S579 in cases their relatives and controls in the Chilean population
    • BLANCO R, JARA L, VILLASECA C, OBREQUE V, CARREÑO H. Cleft lip/palate: allele frequencies of MSX-1, TGFA and D17S579 in cases their relatives and controls in the Chilean population. Rev Bras Genet 1996; 19: 219.
    • (1996) Rev Bras Genet , vol.19 , pp. 219
    • Blanco, R.1    Jara, L.2    Villaseca, C.3    Obreque, V.4    Carreño, H.5
  • 12
    • 3643070934 scopus 로고    scopus 로고
    • Asociación entre la variación genética de MSX1 (Hox-7) y la fisura labiopalatina no sindrómica en población chilena
    • BLANCO R, JARA L, VILLASECA MC. Asociación entre la variación genética de MSX1 (Hox-7) y la fisura labiopalatina no sindrómica en población chilena. Rev Méd Chile 1998; 126: 637-45.
    • (1998) Rev Méd Chile , vol.126 , pp. 637-645
    • Blanco, R.1    Jara, L.2    Villaseca, M.C.3
  • 13
    • 0032128807 scopus 로고    scopus 로고
    • La variación genética de MSX1 presenta un dismorfismo sexual en la fisura labiopalatina no sindrómica en la población chilena
    • BLANCO R, JARA L, VILLASECA C, PALOMINO H, CARREÑO H. La variación genética de MSX1 presenta un dismorfismo sexual en la fisura labiopalatina no sindrómica en la población chilena. Rev Méd Chile 1998; 126: 781-7.
    • (1998) Rev Méd Chile , vol.126 , pp. 781-787
    • Blanco, R.1    Jara, L.2    Villaseca, C.3    Palomino, H.4    Carreño, H.5
  • 14
    • 0347040428 scopus 로고    scopus 로고
    • Estudio de asociación entre la fisura labiopalatina no sindrómica y marcadores de microsatélite ubicados en 6p
    • CARREÑO H, PAREDES M, TELLEZ G, PALOMINO H, BLANCO R. Estudio de asociación entre la fisura labiopalatina no sindrómica y marcadores de microsatélite ubicados en 6p. Rev Méd Chile 1999; 127: 1189-98.
    • (1999) Rev Méd Chile , vol.127 , pp. 1189-1198
    • Carreño, H.1    Paredes, M.2    Tellez, G.3    Palomino, H.4    Blanco, R.5
  • 15
    • 0033289826 scopus 로고    scopus 로고
    • Asociación entre el fenotipo fisura labiopalatina no sindrómico y marcadores de microsatélite ubicados en 4q
    • PAREDES M, CARREÑO H, SOLÁ JA, SEGU J, PALOMINO H, BLANCO R. Asociación entre el fenotipo fisura labiopalatina no sindrómico y marcadores de microsatélite ubicados en 4q. Rev Méd Chile 1999; 127: 1431-8.
    • (1999) Rev Méd Chile , vol.127 , pp. 1431-1438
    • Paredes, M.1    Carreño, H.2    Solá, J.A.3    Segu, J.4    Palomino, H.5    Blanco, R.6
  • 16
    • 0035058579 scopus 로고    scopus 로고
    • Evidence of a sex-dependent association between the MSX1 locus and nonsyndromic cleft lip with or without cleft palate in the Chilean population
    • BLANCO R, CHAKRABORTY R, BARTON SA, CARREÑO 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.
    • (2001) Hum Biol , vol.73 , pp. 81-89
    • Blanco, R.1    Chakraborty, R.2    Barton, S.A.3    Carreño, H.4    Paredes, M.5    Jara, L.6
  • 17
    • 0036366914 scopus 로고    scopus 로고
    • Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélites ubicados en 6p, 17q y 19q
    • CARREÑO H, SUAZO J, PAREDES M, SOLÁ J, VALENZUELA J, BLANCO R. Asociación entre el fenotipo fisura labiopalatina no sindrómica y marcadores de microsatélites ubicados en 6p, 17q y 19q. Rev Méd Chile 2002; 130: 35-44.
    • (2002) Rev Méd Chile , vol.130 , pp. 35-44
    • Carreño, H.1    Suazo, J.2    Paredes, M.3    Solá, J.4    Valenzuela, J.5    Blanco, R.6
  • 19
    • 0028292605 scopus 로고
    • Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development
    • SATOKATA I, MAAS R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nature Genet 1994; 6: 348-55.
    • (1994) Nature Genet , vol.6 , pp. 348-355
    • Satokata, I.1    Maas, R.2
  • 20
    • 0030671069 scopus 로고    scopus 로고
    • Application of transmission disequilibrium tests to nonsyndromic oral clefts: Including candidate genes and environmental exposures in the models
    • MAESTRI NE, BEATY TH, HETMANSKI J, SMITH EA, MSINTOSH I, WYSZYNSKI DF ET AL. Application of transmission disequilibrium tests to nonsyndromic oral clefts: including candidate genes and environmental exposures in the models. Am J Med Genet 1997; 73: 337-44.
    • (1997) Am J Med Genet , vol.73 , pp. 337-344
    • Maestri, N.E.1    Beaty, T.H.2    Hetmanski, J.3    Smith, E.A.4    Msintosh, I.5    Wyszynski, D.F.6
  • 22
    • 0032989710 scopus 로고    scopus 로고
    • Candidate genes for nonsynsyndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: Evaluation of genotype-environment interactions from a population-based case-control study of orofacial clefts
    • ROMITTI PA, LIDRAL AC, MUNGER RG, DAACK-HIHSCH S, BURNS TL, MURRAY JM. Candidate genes for nonsynsyndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: evaluation of genotype-environment interactions from a population-based case-control study of orofacial clefts. Teratology 1999; 59: 39-50.
    • (1999) Teratology , vol.59 , pp. 39-50
    • Romitti, P.A.1    Lidral, A.C.2    Munger, R.G.3    Daack-Hihsch, S.4    Burns, T.L.5    Murray, J.M.6
  • 25
  • 26
  • 27
  • 28
    • 0030872838 scopus 로고    scopus 로고
    • PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
    • NICKERSON DA, TOBE VO, TAYLOR SL. PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res 1997; 25: 2745-51.
    • (1997) Nucleic Acids Res , vol.25 , pp. 2745-2751
    • Nickerson, D.A.1    Tobe, V.O.2    Taylor, S.L.3
  • 30
    • 0034161419 scopus 로고    scopus 로고
    • Exonic splicing enhancers: Mechanism of action, diversity and role in human genetic diseases
    • BLENCOWE BJ. Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases. Trends Biochem Sci 2000; 25: 106-10.
    • (2000) Trends Biochem Sci , vol.25 , pp. 106-110
    • Blencowe, B.J.1
  • 31
    • 0033835333 scopus 로고    scopus 로고
    • Sorting out the complexity of SR protein functions
    • GRAVELEY BR. Sorting out the complexity of SR protein functions. RNA 2000; 6: 1197-211.
    • (2000) RNA , vol.6 , pp. 1197-1211
    • Graveley, B.R.1
  • 32
    • 0027477526 scopus 로고
    • Structural analysis based on state-space modeling
    • STULTZ CM, WHITE JV, SMITH TF. Structural analysis based on state-space modeling. Protein Sci 1993; 2: 305-14.
    • (1993) Protein Sci , vol.2 , pp. 305-314
    • Stultz, C.M.1    White, J.V.2    Smith, T.F.3
  • 33
    • 0028181528 scopus 로고
    • Protein classification by stochastic modeling and optimal filtering of amino-acid sequences
    • WHITE JV, STULTZ CM, SMITH TF. Protein classification by stochastic modeling and optimal filtering of amino-acid sequences. Mathematical Biosci 1994; 119: 35-75.
    • (1994) Mathematical Biosci , vol.119 , pp. 35-75
    • White, J.V.1    Stultz, C.M.2    Smith, T.F.3
  • 35
    • 0032881718 scopus 로고    scopus 로고
    • The many faces and factors of orofacial clefts
    • SCHUTTE BC, MURRAY JC. The many faces and factors of orofacial clefts. Hum Mol Genet 1999; 8: 1853-9.
    • (1999) Hum Mol Genet , vol.8 , pp. 1853-1859
    • Schutte, B.C.1    Murray, J.C.2
  • 37
    • 0031715996 scopus 로고    scopus 로고
    • Polymorphic variants within the homeobox gene MSX1: A candidate gene for developmental disorders
    • HOLLWAY GE, MULLEY JC. Polymorphic variants within the homeobox gene MSX1: a candidate gene for developmental disorders. Clin Genetics 1998; 54: 152-4.
    • (1998) Clin Genetics , vol.54 , pp. 152-154
    • Hollway, G.E.1    Mulley, J.C.2
  • 39
    • 0035880416 scopus 로고    scopus 로고
    • Quantitative effects on gene silencing by allelic variation at a tetranucleotide microsatellite
    • ALBANESE V, BIGUET NF, KIEFER H, BAYARD E, MALLET J, MELONI R. Quantitative effects on gene silencing by allelic variation at a tetranucleotide microsatellite. Hum Mol Genet 2001; 10; 1785-92.
    • (2001) Hum Mol Genet , vol.10 , pp. 1785-1792
    • Albanese, V.1    Biguet, N.F.2    Kiefer, H.3    Bayard, E.4    Mallet, J.5    Meloni, R.6
  • 40
    • 0035979178 scopus 로고    scopus 로고
    • A polymorphic dinucleotide repeat in the rat nucleolin gene forms Z-DNA and inhibits promoter activity
    • ROTHENBURG S, KOCH-NOLTE F, RICH A, HAAG F. A polymorphic dinucleotide repeat in the rat nucleolin gene forms Z-DNA and inhibits promoter activity. Proc Nat Acad SCI 2001; 98: 8985-90.
    • (2001) Proc Nat Acad SCI , vol.98 , pp. 8985-8990
    • Rothenburg, S.1    Koch-Nolte, F.2    Rich, A.3    Haag, F.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.