메뉴 건너뛰기




Volumn 46, Issue 5, 2009, Pages 532-540

Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12)

Author keywords

Association analysis; Balanced chromosomal translocation; BSPRY; CCL2; Cleft lip and palate; Haplotype; HapMap; SLC31A1

Indexed keywords

B BOX AND SPRY DOMAIN CONTAINING PROTEIN; CARRIER PROTEIN; MONOCYTE CHEMOTACTIC PROTEIN 1; SOLUTE CARRIER FAMILY 31 MEMBER 1; SPROUTY PROTEIN; UNCLASSIFIED DRUG;

EID: 69949151719     PISSN: 10556656     EISSN: 15451569     Source Type: Journal    
DOI: 10.1597/08-047.1     Document Type: Article
Times cited : (5)

References (48)
  • 1
    • 33749069523 scopus 로고    scopus 로고
    • SUM01 haploinsufficiency leads to cleft lip and palate
    • DOI 10.1126/science.1128406
    • Alkuraya FS, Saadi I, Lund JJ, Turbe-Doan A, Morton CC, Maas RL. SUMO1 haploinsufficiency leads to cleft lip and palate. Science. 2006;313:1751. (Pubitemid 44461865)
    • (2006) Science , vol.313 , Issue.5794 , pp. 1751
    • Alkuraya, F.S.1    Saadi, I.2    Lund, J.J.3    Turbe-Doan, A.4    Morton, C.C.5    Maas, R.L.6
  • 4
    • 0022963306 scopus 로고
    • Genetic epidemiology and control of genetic expression in van der Woude syndrome
    • Burdick AB. Genetic epidemiology and control of genetic expression in van der Woude syndrome. J Craniofac Genet Dev Biol. 1986;Suppl 2:99-105.
    • (1986) J Craniofac Genet Dev Biol , Issue.SUPPL. 2 , pp. 99-105
    • Burdick, A.B.1
  • 5
    • 0026620226 scopus 로고
    • Cleft lip with or without cleft palate: Associations with transforming growth factor alpha and retinoic acid receptor loci
    • Chenevix-Trench G, Jones K, Green AC, Duffy DL, Martin NG. Cleft lip with or without cleft palate: associations with transforming growth factor alpha and retinoic acid receptor loci. Am J Hum Genet. 1992;51:1377-1385. (Pubitemid 23001097)
    • (1992) American Journal of Human Genetics , vol.51 , Issue.6 , pp. 1377-1385
    • Chenevix-Trench, G.1    Jones, K.2    Green, A.C.3    Duffy, D.L.4    Martin, N.G.5
  • 6
    • 21644469894 scopus 로고    scopus 로고
    • Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q
    • Czako M, Riegel M, Morava E, Bajnoczky K, Kosztolanyi G. Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q. Am J Med Genet A. 2004;131:310-312.
    • (2004) Am J Med Genet A , vol.131 , pp. 310-312
    • Czako, M.1    Riegel, M.2    Morava, E.3    Bajnoczky, K.4    Kosztolanyi, G.5
  • 7
    • 0025280026 scopus 로고
    • Centre d'Etude du Polymorphisme Humain (CEPH): Collaborative genetic mappping of the human genome
    • DOI 10.1016/0888-7543(90)90491-C
    • Dausset J, Cann H, Cohen D, Lathrop M, Lalouel JM, White R. Centre d'Etude du Polymorphisme Humain (CEPH): collaborative genetic mapping of the human genome. Genomics. 1990;6:575-577. (Pubitemid 20168693)
    • (1990) Genomics , vol.6 , Issue.3 , pp. 575-577
    • Dausset, J.1    Cann, H.2    Cohen, D.3    Lathrop, M.4    Lalouel, J.-M.5    White, R.6
  • 10
    • 33644810889 scopus 로고    scopus 로고
    • Interferon regulatory factor-6: A gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population
    • Ghassibe M, Bayet B, Revencu N, Verellen-Dumoulin C, Gillerot Y, Vanwijck R, Vikkula M. Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population. Eur J Hum Genet. 2005;13:1239-1242.
    • (2005) Eur J Hum Genet , vol.13 , pp. 1239-1242
    • Ghassibe, M.1    Bayet, B.2    Revencu, N.3    Verellen-Dumoulin, C.4    Gillerot, Y.5    Vanwijck, R.6    Vikkula, M.7
  • 11
    • 33846021644 scopus 로고    scopus 로고
    • Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly
    • Gurnett CA, Bowcock AM, Dietz FR, Morcuende JA, Murray JC, Dobbs MB. Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly. Am J Med Genet A. 2007;143:27-32.
    • (2007) Am J Med Genet A , vol.143 , pp. 27-32
    • Gurnett, C.A.1    Bowcock, A.M.2    Dietz, F.R.3    Morcuende, J.A.4    Murray, J.C.5    Dobbs, M.B.6
  • 12
    • 0035055544 scopus 로고    scopus 로고
    • The family based association test method: Strategies for studying general genotype-phenotype associations
    • DOI 10.1038/sj.ejhg.5200625
    • Horvath S, Xu X, Laird NM. The family based association test method: strategies for studying general genotype-phenotype associations. Eur J Hum Genet. 2001;9:301-306. (Pubitemid 32366699)
    • (2001) European Journal of Human Genetics , vol.9 , Issue.4 , pp. 301-306
    • Horvath, S.1    Xu, X.2    Laird, N.M.3
  • 13
    • 0033516614 scopus 로고    scopus 로고
    • Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop
    • DOI 10.1002/(SICI)1096-8628(19990702)85:1<5::AID-AJMG3>3.0.CO;2-A
    • Huie ML, Kasper JS, Arn PH, Greenberg CR, Hirschhorn R. Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop. Am J Med Genet. 1999;85:5-8. (Pubitemid 29256798)
    • (1999) American Journal of Medical Genetics , vol.85 , Issue.1 , pp. 5-8
    • Huie, M.L.1    Kasper, J.S.2    Arn, P.H.3    Greenberg, C.R.4    Hirschhorn, R.5
  • 14
    • 31544449192 scopus 로고    scopus 로고
    • PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: Population-based and family-based candidate gene analyses
    • DOI 10.1007/s10038-005-0319-8
    • Ichikawa E, Watanabe A, Nakano Y, Akita S, Hirano A, Kinoshita A, Kondo S, Kishino T, Uchiyama T, Niikawa N, et al. PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses. J Hum Genet. 2006;51:38-46. (Pubitemid 43162250)
    • (2006) Journal of Human Genetics , vol.51 , Issue.1 , pp. 38-46
    • Ichikawa, E.1    Watanabe, A.2    Nakano, Y.3    Akita, S.4    Hirano, A.5    Kinoshita, A.6    Kondo, S.7    Kishino, T.8    Uchiyama, T.9    Niikawa, N.10    Yoshiura, K.-I.11
  • 15
    • 0035846539 scopus 로고    scopus 로고
    • Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy
    • Jeannet PY, Watts GD, Bird TD, Chance PF. Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy. Neurology. 2001;57:1963-1968.
    • (2001) Neurology , vol.57 , pp. 1963-1968
    • Jeannet, P.Y.1    Watts, G.D.2    Bird, T.D.3    Chance, P.F.4
  • 21
    • 0026608195 scopus 로고
    • A new case of monosomy for 17q25 - Qter due to a maternal translocation [t(3;17)(p12;q24)]
    • Luke S, Bennett HS, Pitter JH, Verma RS. A new case of monosomy for 17q25 - qter due to a maternal translocation [t(3;17)(p12;q24)]. Ann Genet. 1992;35:48-50..
    • (1992) Ann Genet , vol.35 , pp. 48-50
    • Luke, S.1    Bennett, H.S.2    Pitter, J.H.3    Verma, R.S.4
  • 24
    • 33646925202 scopus 로고    scopus 로고
    • Fetus with two identical reciprocal translocations: Description of a rare complication of consanguinity
    • Martinet D, Vial Y, Thonney F, Beckmann JS, Meagher-Villemure K, Unger S. Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity. Am J Med Genet A. 2006;140:769-774.
    • (2006) Am J Med Genet A , vol.140 , pp. 769-774
    • Martinet, D.1    Vial, Y.2    Thonney, F.3    Beckmann, J.S.4    Meagher-Villemure, K.5    Unger, S.6
  • 27
    • 0242670655 scopus 로고    scopus 로고
    • Epidemiology of oral clefts: An international perspective
    • Wyszynski DF, ed. New York: Oxford University Press
    • Mossey P, Little J. Epidemiology of oral clefts: an international perspective. In: Wyszynski DF, ed. Cleft Lip and Palate: From Origin to Treatment. New York: Oxford University Press; 2002:127-157.
    • (2002) Cleft Lip and Palate: From Origin to Treatment , pp. 127-157
    • Mossey, P.1    Little, J.2
  • 28
    • 0036556368 scopus 로고    scopus 로고
    • Gene/environment causes of cleft lip and/or palate
    • DOI 10.1034/j.1399-0004.2002.610402.x
    • Murray JC. Gene/environment causes of cleft lip and/or palate. Clin Genet. 2002;61:248-256. (Pubitemid 36372641)
    • (2002) Clinical Genetics , vol.61 , Issue.4 , pp. 248-256
    • Murray, J.C.1
  • 31
    • 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;25:2745-2751.
    • (1997) Nucleic Acids Res , vol.25 , pp. 2745-2751
    • Nickerson, D.A.1    Tobe, V.O.2    Taylor, S.L.3
  • 32
    • 0031424145 scopus 로고    scopus 로고
    • Assignment of MARK3 alias KP78 to human chromosome band 14q32.3 by in situ hybridization
    • Ono T, Kawabe T, Sonta S, Okamoto T. Assignment of MARK3 alias KP78 to human chromosome band 14q32.3 by in situ hybridization. Cytogenet Cell Genet. 1997;79:101-102. (Pubitemid 28107826)
    • (1997) Cytogenetics and Cell Genetics , vol.79 , Issue.1-2 , pp. 101-102
    • Ono, T.1    Kawabe, T.2    Sonta, S.-I.3    Okamoto, T.4
  • 33
    • 0028980029 scopus 로고
    • The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24
    • Paavola P, Salonen R, Weissenbach J, Peltonen L. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet. 1995;11:213-215.
    • (1995) Nat Genet , vol.11 , pp. 213-215
    • Paavola, P.1    Salonen, R.2    Weissenbach, J.3    Peltonen, L.4
  • 36
    • 0034054165 scopus 로고    scopus 로고
    • A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information
    • Rabinowitz D, Laird N. A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information. Hum Hered. 2000;50:211-223. (Pubitemid 30232624)
    • (2000) Human Heredity , vol.50 , Issue.4 , pp. 211-223
    • Rabinowitz, D.1    Laird, N.2
  • 38
    • 11144322225 scopus 로고    scopus 로고
    • Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population
    • DOI 10.1086/427344
    • Scapoli L, Palmieri A, Martinelli M, Pezzetti F, Carinci P, Tognon M, Carinci F. Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population. Am J Hum Genet. 2005;76:180-183. (Pubitemid 40023778)
    • (2005) American Journal of Human Genetics , vol.76 , Issue.1 , pp. 180-183
    • Scapoli, L.1    Palmieri, A.2    Martinelli, M.3    Pezzetti, F.4    Carinci, P.5    Tognon, M.6    Carinci, F.7
  • 39
    • 0035500596 scopus 로고    scopus 로고
    • Dominant transmission of a previously unidentified 13/17 translocation in a five-generation family with Robin cleft and other skeletal defects
    • Stalker HJ, Gray BA, Zori RT. Dominant transmission of a previously unidentified 13/17 translocation in a five-generation family with Robin cleft and other skeletal defects. Am J Med Genet. 2001;103:339-341.
    • (2001) Am J Med Genet , vol.103 , pp. 339-341
    • Stalker, H.J.1    Gray, B.A.2    Zori, R.T.3
  • 41
    • 0034028899 scopus 로고    scopus 로고
    • MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans
    • DOI 10.1038/74155
    • van den Boogaard MJ, Dorland M, Beemer FA, van Amstel HK. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet. 2000;24:342-343. (Pubitemid 30187429)
    • (2000) Nature Genetics , vol.24 , Issue.4 , pp. 342-343
    • Van Den Boogaard, M.-J.H.1    Dorland, M.2    Beemer, F.A.3    Van Amstel, H.K.P.4
  • 44
    • 34548537913 scopus 로고    scopus 로고
    • A dosage-dependent role for Spry2 in growth and patterning during palate development
    • DOI 10.1016/j.mod.2007.06.007, PII S0925477307001074
    • Welsh IC, Hagge-Greenberg A, O'Brien TP. A dosage-dependent role for Spry2 in growth and patterning during palate development. Mech Dev. 2007;124:746-761. (Pubitemid 47385140)
    • (2007) Mechanisms of Development , vol.124 , Issue.9-10 , pp. 746-761
    • Welsh, I.C.1    Hagge-Greenberg, A.2    O'Brien, T.P.3
  • 45
    • 0034648496 scopus 로고    scopus 로고
    • Tandem duplication/deletion in a maternally derived chromosome 9 supernumerary derivative resulting in 9p trisomy and partial 9q tetrasomy
    • Wyandt HE, Lebo RV, Fenerci EY, Sadhu DN, Milunsky JM. Tandem duplication/deletion in a maternally derived chromosome 9 supernumerary derivative resulting in 9p trisomy and partial 9q tetrasomy. Am J Med Genet. 2000;93:305-312.
    • (2000) Am J Med Genet , vol.93 , pp. 305-312
    • Wyandt, H.E.1    Lebo, R.V.2    Fenerci, E.Y.3    Sadhu, D.N.4    Milunsky, J.M.5
  • 46
    • 0032400979 scopus 로고    scopus 로고
    • Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate
    • DOI 10.1006/geno.1998.5577
    • Yoshiura K, Machida J, Daack-Hirsch S, Patil SR, Ashworth LK, Hecht JT, Murray JC. Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate. Genomics. 1998;54:231-240. (Pubitemid 28553632)
    • (1998) Genomics , vol.54 , Issue.2 , pp. 231-240
    • Yoshiura, K.-I.1    Machida, J.2    Daack-Hirsch, S.3    Patil, S.R.4    Ashworth, L.K.5    Hecht, J.T.6    Murray, J.C.7
  • 47
    • 0027176020 scopus 로고
    • Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: Prenatal and postnatal late replication studies
    • Zori RT, Gray BA, Bent-Williams A, Driscoll DJ, Williams CA, Zackowski JL. Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies. Am J Med Genet. 1993;46:379-383. (Pubitemid 23149677)
    • (1993) American Journal of Medical Genetics , vol.46 , Issue.4 , pp. 379-383
    • Zori, R.T.1    Gray, B.A.2    Bent-Williams, A.3    Driscoll, D.J.4    Williams, C.A.5    Zackowski, J.L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.