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Volumn 12, Issue 8, 2016, Pages

Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology

(25)  Shaffer, John R a,b   Orlova, Ekaterina a,b   Lee, Myoung Keun b   Leslie, Elizabeth J b   Raffensperger, Zachary D b   Heike, Carrie L c   Cunningham, Michael L c   Hecht, Jacqueline T d   Kau, Chung How e   Nidey, Nichole L f   Moreno, Lina M g,h   Wehby, George L g   Murray, Jeffrey C f   Laurie, Cecelia A i   Laurie, Cathy C i   Cole, Joanne j   Ferrara, Tracey j   Santorico, Stephanie j,k   Klein, Ophir l,m   Mio, Washington n   more..


Author keywords

[No Author keywords available]

Indexed keywords

HISTONE DEACETYLASE 8; TRANSCRIPTION FACTOR PAX9; TRANSCRIPTION FACTOR;

EID: 84984924942     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1006149     Document Type: Article
Times cited : (123)

References (68)
  • 3
    • 33847735133 scopus 로고    scopus 로고
    • Complex segregation analysis of two principal components derived from horizontal and vertical head size traits
    • 17381053,.;: –.
    • Ermakov S, Kobyliansky E, Livshits G, Complex segregation analysis of two principal components derived from horizontal and vertical head size traits. Ann Hum Biol. 2006;33:546–556. 17381053
    • (2006) Ann Hum Biol , vol.33 , pp. 546-556
    • Ermakov, S.1    Kobyliansky, E.2    Livshits, G.3
  • 4
    • 58149343777 scopus 로고    scopus 로고
    • Heritability of human cranial dimensions: comparing the evolvability of different cranial regions
    • 19166470,.;: –.
    • Martínez-Abadías N, Esparza M, Sjøvold T, González-José R, Santos M, Hernández M, Heritability of human cranial dimensions: comparing the evolvability of different cranial regions. J Anat. 2009;214:19–35. doi: 10.1111/j.1469-7580.2008.01015.x19166470
    • (2009) J Anat , vol.214 , pp. 19-35
    • Martínez-Abadías, N.1    Esparza, M.2    Sjøvold, T.3    González-José, R.4    Santos, M.5    Hernández, M.6
  • 5
    • 84938959067 scopus 로고    scopus 로고
    • Heritability of the human craniofacial complex
    • Šešelj M, Duren DL, Sherwood RJ, Heritability of the human craniofacial complex. Anat Rec. 2015;298:1535–1547.
    • (2015) Anat Rec , vol.298 , pp. 1535-1547
    • Šešelj, M.1    Duren, D.L.2    Sherwood, R.J.3
  • 7
    • 0030271540 scopus 로고    scopus 로고
    • Craniofacial defects in AP-2 null mutant mice
    • 8885715,.;: –.
    • Morriss-Kay GM, Craniofacial defects in AP-2 null mutant mice. Bioessays. 1996;18:785–788. 8885715
    • (1996) Bioessays , vol.18 , pp. 785-788
    • Morriss-Kay, G.M.1
  • 8
    • 33644821667 scopus 로고    scopus 로고
    • The brachymorph mouse and the developmental-genetic basis for canalization and morphological integration
    • 16409383,.;: –.
    • Hallgrimsson B, Brown JJY, Ford-Hutchinson AF, Sheets HD, Zelditch ML, Jirik FR, The brachymorph mouse and the developmental-genetic basis for canalization and morphological integration. Evol Dev. 2006;8:61–73. 16409383
    • (2006) Evol Dev , vol.8 , pp. 61-73
    • Hallgrimsson, B.1    Brown, J.J.Y.2    Ford-Hutchinson, A.F.3    Sheets, H.D.4    Zelditch, M.L.5    Jirik, F.R.6
  • 9
    • 33751228726 scopus 로고    scopus 로고
    • The craniofacial phenotype of the Crouzon mouse: analysis of a model for syndromic craniosynostosis using three-dimensional microCT
    • 17105336,..;: –.
    • Perlyn CA, DeLeon VB, Babbs C, Govier D, Burell L, Darvann T, et al. The craniofacial phenotype of the Crouzon mouse: analysis of a model for syndromic craniosynostosis using three-dimensional microCT. Cleft Palate Craniofac J. 2006;43:740–747. 17105336
    • (2006) Cleft Palate Craniofac J , vol.43 , pp. 740-747
    • Perlyn, C.A.1    DeLeon, V.B.2    Babbs, C.3    Govier, D.4    Burell, L.5    Darvann, T.6
  • 10
    • 0034978346 scopus 로고    scopus 로고
    • The canine homeobox gene MSX2: sequence, chromosome assignment and genetic analysis in dogs of different breeds
    • 11419342,.; (): –.
    • Haworth K, Breen M, Binns M, Hopkinson DA, Edwards YH, The canine homeobox gene MSX2: sequence, chromosome assignment and genetic analysis in dogs of different breeds. Anim Genet. 2001;32(1):32–6. 11419342
    • (2001) Anim Genet , vol.32 , Issue.1 , pp. 32-36
    • Haworth, K.1    Breen, M.2    Binns, M.3    Hopkinson, D.A.4    Edwards, Y.H.5
  • 11
    • 0035101784 scopus 로고    scopus 로고
    • Genetic architecture of mandible shape in mice: effects of quantitative trait loci analyzed by geometric morphometrics
    • 11156997,.;: –.
    • Klingenberg CP, Leamy LJ, Routman EJ, Cheverud JM, Genetic architecture of mandible shape in mice: effects of quantitative trait loci analyzed by geometric morphometrics. Genetics. 2001;157:785–802. 11156997
    • (2001) Genetics , vol.157 , pp. 785-802
    • Klingenberg, C.P.1    Leamy, L.J.2    Routman, E.J.3    Cheverud, J.M.4
  • 12
    • 56049085611 scopus 로고    scopus 로고
    • A genomewide linkage scan for quantitative trait loci influencing the craniofacial complex in baboons (Papio hamadryas spp.)
    • 18757921,..;: –.
    • Sherwood RJ, Duren DL, Havill LM, Rogers J, Cox LA, Towne B, et al. A genomewide linkage scan for quantitative trait loci influencing the craniofacial complex in baboons (Papio hamadryas spp.). Genetics. 2008;180:619–628. doi: 10.1534/genetics.108.09040718757921
    • (2008) Genetics , vol.180 , pp. 619-628
    • Sherwood, R.J.1    Duren, D.L.2    Havill, L.M.3    Rogers, J.4    Cox, L.A.5    Towne, B.6
  • 13
    • 84926479433 scopus 로고    scopus 로고
    • Quantitative trait loci affecting the 3D skull shape and size in mouse and prioritization of candidate genes in-silico
    • 25859222,.;:.
    • Maga AM, Navarro N, Cunningham ML, Cox TC, Quantitative trait loci affecting the 3D skull shape and size in mouse and prioritization of candidate genes in-silico. Front Physiol. 2015;6:92. doi: 10.3389/fphys.2015.0009225859222
    • (2015) Front Physiol , vol.6 , pp. 92
    • Maga, A.M.1    Navarro, N.2    Cunningham, M.L.3    Cox, T.C.4
  • 14
    • 84949239455 scopus 로고    scopus 로고
    • Mapping of craniofacial traits in outbred mice identifies major developmental genes involved in shape determination
    • 26523602,..;:.
    • Pallares LF, Carbonetto P, Gopalakrishnan S, Parker CC, Ackert-Bicknell CL, Palmer AA, et al. Mapping of craniofacial traits in outbred mice identifies major developmental genes involved in shape determination. PLoS Genet. 2015;11:e1005607. doi: 10.1371/journal.pgen.100560726523602
    • (2015) PLoS Genet , vol.11 , pp. e1005607
    • Pallares, L.F.1    Carbonetto, P.2    Gopalakrishnan, S.3    Parker, C.C.4    Ackert-Bicknell, C.L.5    Palmer, A.A.6
  • 15
    • 70350004686 scopus 로고    scopus 로고
    • Face shape of unaffected parents with cleft affected offspring: combining three-dimensional surface imaging and geometric morphometrics
    • Weinberg SM, Naidoo S, Bardi KM, Brandon CA, Neiswanger K, Resick JM, et al. Face shape of unaffected parents with cleft affected offspring: combining three-dimensional surface imaging and geometric morphometrics. Orthod Craniofacial Res. 2009;12:271–281.
    • (2009) Orthod Craniofacial Res , vol.12 , pp. 271-281
    • Weinberg, S.M.1    Naidoo, S.2    Bardi, K.M.3    Brandon, C.A.4    Neiswanger, K.5    Resick, J.M.6
  • 16
    • 80054814425 scopus 로고    scopus 로고
    • Genetic determination of human facial morphology: links between cleft-lips and normal variation
    • 21694738,..;: –.
    • Boehringer S, van der Lijn F, Liu F, Günther M, Sinigerova S, Nowak S, et al. Genetic determination of human facial morphology: links between cleft-lips and normal variation. Eur J Hum Genet. 2011;19:1192–1197. doi: 10.1038/ejhg.2011.11021694738
    • (2011) Eur J Hum Genet , vol.19 , pp. 1192-1197
    • Boehringer, S.1    van der Lijn, F.2    Liu, F.3    Günther, M.4    Sinigerova, S.5    Nowak, S.6
  • 17
    • 84862777475 scopus 로고    scopus 로고
    • Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position
    • 22341974,..;: –.
    • Paternoster L, Zhurov AI, Toma AM, Kemp JP, St Pourcain B, Timpson NJ, et al. Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position. Am J Hum Genet. 2012;90:478–485. doi: 10.1016/j.ajhg.2011.12.02122341974
    • (2012) Am J Hum Genet , vol.90 , pp. 478-485
    • Paternoster, L.1    Zhurov, A.I.2    Toma, A.M.3    Kemp, J.P.4    St Pourcain, B.5    Timpson, N.J.6
  • 18
    • 84866903278 scopus 로고    scopus 로고
    • A genome-wide association study identifies five loci influencing facial morphology in Europeans
    • 23028347,..;:.
    • Liu F, van der Lijn F, Schurmann C, Zhu G, Chakravarty MM, Hysi PG, et al. A genome-wide association study identifies five loci influencing facial morphology in Europeans. PLoS Genet. 2012;8:e1002932. doi: 10.1371/journal.pgen.100293223028347
    • (2012) PLoS Genet , vol.8 , pp. e1002932
    • Liu, F.1    van der Lijn, F.2    Schurmann, C.3    Zhu, G.4    Chakravarty, M.M.5    Hysi, P.G.6
  • 19
    • 0035377372 scopus 로고    scopus 로고
    • Growth hormone receptor gene variant and mandibular height in the normal Japanese population
    • 11395710,.;: –.
    • Yamaguchi T, Maki K, Shibasaki Y, Growth hormone receptor gene variant and mandibular height in the normal Japanese population. Am J Orthod Dentofacial Orthop. 2001;119:650–653. 11395710
    • (2001) Am J Orthod Dentofacial Orthop , vol.119 , pp. 650-653
    • Yamaguchi, T.1    Maki, K.2    Shibasaki, Y.3
  • 20
    • 16244383218 scopus 로고    scopus 로고
    • Linkage disequilibrium analysis identifies an FGFR1 haplotype-tag SNP associated with normal variation in craniofacial shape
    • 15820308,.;: –.
    • Coussens AK, van Daal A, Linkage disequilibrium analysis identifies an FGFR1 haplotype-tag SNP associated with normal variation in craniofacial shape. Genomics. 2005;85:563–73. 15820308
    • (2005) Genomics , vol.85 , pp. 563-573
    • Coussens, A.K.1    van Daal, A.2
  • 21
    • 67349107165 scopus 로고    scopus 로고
    • Association of the growth hormone receptor gene polymorphisms with mandibular height in a Korean population
    • 19344888,..;: –.
    • Kang EH, Yamaguchi T, Tajima A, Nakajima T, Tomoyasu Y, Watanabe M, et al. Association of the growth hormone receptor gene polymorphisms with mandibular height in a Korean population. Arch Oral Biol. 2009;54:556–562. doi: 10.1016/j.archoralbio.2009.03.00219344888
    • (2009) Arch Oral Biol , vol.54 , pp. 556-562
    • Kang, E.H.1    Yamaguchi, T.2    Tajima, A.3    Nakajima, T.4    Tomoyasu, Y.5    Watanabe, M.6
  • 22
    • 73349083996 scopus 로고    scopus 로고
    • The P561T polymorphism of the growth hormone receptor gene has an inhibitory effect on mandibular growth in young children
    • 19447840,.;: –.
    • Sasaki Y, Satoh K, Hayasaki H, Fukumoto S, Fujiwara T, Nonaka K, The P561T polymorphism of the growth hormone receptor gene has an inhibitory effect on mandibular growth in young children. Eur J Orthod. 2009;31:536–541. doi: 10.1093/ejo/cjp01719447840
    • (2009) Eur J Orthod , vol.31 , pp. 536-541
    • Sasaki, Y.1    Satoh, K.2    Hayasaki, H.3    Fukumoto, S.4    Fujiwara, T.5    Nonaka, K.6
  • 23
    • 70350445090 scopus 로고    scopus 로고
    • Further evidence for an association between mandibular height and the growth hormone receptor gene in a Japanese population
    • 19815155,.;: –.
    • Tomoyasu Y, Yamaguchi T, Tajima A, Nakajima T, Inoue I, Maki K, Further evidence for an association between mandibular height and the growth hormone receptor gene in a Japanese population. Am J Orthod Dentofacial Orthop. 2009;136:536–541. doi: 10.1016/j.ajodo.2007.10.05419815155
    • (2009) Am J Orthod Dentofacial Orthop , vol.136 , pp. 536-541
    • Tomoyasu, Y.1    Yamaguchi, T.2    Tajima, A.3    Nakajima, T.4    Inoue, I.5    Maki, K.6
  • 24
    • 77958586684 scopus 로고    scopus 로고
    • Family-based study of association between ENPP1 genetic variants and craniofacial morphology
    • 20446819,.;: –.
    • Ermakov S, Rosenbaum MG, Malkin I, Livshits G, Family-based study of association between ENPP1 genetic variants and craniofacial morphology. Ann Hum Biol. 2010;37:754–766. doi: 10.3109/0301446100363923120446819
    • (2010) Ann Hum Biol , vol.37 , pp. 754-766
    • Ermakov, S.1    Rosenbaum, M.G.2    Malkin, I.3    Livshits, G.4
  • 25
    • 84871306561 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor 1 (FGFR1) variants and craniofacial variation in Amerindians and related populations
    • 23070782,..;: –.
    • Gómez-Valdés JA, Hünemeier T, Contini V, Acuña-Alonzo V, Macin G, Ballesteros-Romero M, et al. Fibroblast growth factor receptor 1 (FGFR1) variants and craniofacial variation in Amerindians and related populations. Am J Hum Biol. 2013;25:12–19. doi: 10.1002/ajhb.2233123070782
    • (2013) Am J Hum Biol , vol.25 , pp. 12-19
    • Gómez-Valdés, J.A.1    Hünemeier, T.2    Contini, V.3    Acuña-Alonzo, V.4    Macin, G.5    Ballesteros-Romero, M.6
  • 26
    • 84892705958 scopus 로고    scopus 로고
    • Detecting genetic association of common human facial morphological variation using high density 3D image registration
    • Peng S, Tan J, Hu S, Zhou H, Guo J, Jin L, et al. Detecting genetic association of common human facial morphological variation using high density 3D image registration. PLoS Comp Biol. 2013;9:e1003375.
    • (2013) PLoS Comp Biol , vol.9 , pp. e1003375
    • Peng, S.1    Tan, J.2    Hu, S.3    Zhou, H.4    Guo, J.5    Jin, L.6
  • 27
    • 84907011186 scopus 로고    scopus 로고
    • Relationship between P561T and C422F polymorphisms in growth hormone receptor gene and mandibular prognathism
    • 24654940,.; (): –.
    • Bayram S, Basciftci FA, Kurar E, Relationship between P561T and C422F polymorphisms in growth hormone receptor gene and mandibular prognathism. Angle Orthodont. 2014;84(5):803–9. doi: 10.2319/091713-680.124654940
    • (2014) Angle Orthodont , vol.84 , Issue.5 , pp. 803-809
    • Bayram, S.1    Basciftci, F.A.2    Kurar, E.3
  • 29
    • 77952886672 scopus 로고    scopus 로고
    • A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
    • 20436469,..;: –.
    • Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, et al. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet. 2010;42:525–529. doi: 10.1038/ng.58020436469
    • (2010) Nat Genet , vol.42 , pp. 525-529
    • Beaty, T.H.1    Murray, J.C.2    Marazita, M.L.3    Munger, R.G.4    Ruczinski, I.5    Hetmanski, J.B.6
  • 30
    • 84900028184 scopus 로고    scopus 로고
    • Exploratory genotype-phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate
    • 24738728,..;: –.
    • Miller SF, Weinberg SM, Nidey N, Defay D, Marazita ML, Wehby G, et al. Exploratory genotype-phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate. J Anat. 2014;224:688–709. doi: 10.1111/joa.1218224738728
    • (2014) J Anat , vol.224 , pp. 688-709
    • Miller, S.F.1    Weinberg, S.M.2    Nidey, N.3    Defay, D.4    Marazita, M.L.5    Wehby, G.6
  • 31
    • 0035881215 scopus 로고    scopus 로고
    • A population of caudally migrating cranial neural crest cells: functional and evolutionary implications
    • 11476577,.;: –.
    • McGonnell IM, McKay IJ, Graham A, A population of caudally migrating cranial neural crest cells: functional and evolutionary implications. Dev Biol. 2001;236:354–363. 11476577
    • (2001) Dev Biol , vol.236 , pp. 354-363
    • McGonnell, I.M.1    McKay, I.J.2    Graham, A.3
  • 32
    • 0032169255 scopus 로고    scopus 로고
    • Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities
    • 9732271,.;: –.
    • Peters H, Neubuser A, Kratochwil K, Balling R, Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev. 1998;12:2735–2747. 9732271
    • (1998) Genes Dev , vol.12 , pp. 2735-2747
    • Peters, H.1    Neubuser, A.2    Kratochwil, K.3    Balling, R.4
  • 33
    • 33846303588 scopus 로고    scopus 로고
    • Temporal and spatial expression of Pax9 and Sonic hedgehog during development of normal mouse palates and cleft palates in TGF-beta3 null embryos
    • 17097601,.;: –.
    • Sasaki Y, O'Kane S, Dixon J, Dixon MJ, Ferguson MW, Temporal and spatial expression of Pax9 and Sonic hedgehog during development of normal mouse palates and cleft palates in TGF-beta3 null embryos. Arch Oral Biol. 2007;52:260–267. 17097601
    • (2007) Arch Oral Biol , vol.52 , pp. 260-267
    • Sasaki, Y.1    O'Kane, S.2    Dixon, J.3    Dixon, M.J.4    Ferguson, M.W.5
  • 36
    • 84860748491 scopus 로고    scopus 로고
    • A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome
    • 22560091,..;: –.
    • Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, et al. A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. Am J Hum Genet. 2012;90:907–914. doi: 10.1016/j.ajhg.2012.04.00222560091
    • (2012) Am J Hum Genet , vol.90 , pp. 907-914
    • Rieder, M.J.1    Green, G.E.2    Park, S.S.3    Stamper, B.D.4    Gordon, C.T.5    Johnson, J.M.6
  • 37
    • 84924697136 scopus 로고    scopus 로고
    • Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect
    • 25026904,..;: –.
    • Romanelli Tavares VL, Gordon CT, Zechi-Ceide RM, Kokitsu-Nakata NM, Voisin N, Tan TY, et al. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect. Eur J Hum Genet. 2015;23:481–485. doi: 10.1038/ejhg.2014.13225026904
    • (2015) Eur J Hum Genet , vol.23 , pp. 481-485
    • Romanelli Tavares, V.L.1    Gordon, C.T.2    Zechi-Ceide, R.M.3    Kokitsu-Nakata, N.M.4    Voisin, N.5    Tan, T.Y.6
  • 38
    • 65149104203 scopus 로고    scopus 로고
    • Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene
    • 19409524,..;: –.
    • Twigg SR, Versnel SL, Nürnberg G, Lees MM, Bhat M, Hammond P, et al. Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet. 2009;84:698–705. doi: 10.1016/j.ajhg.2009.04.00919409524
    • (2009) Am J Hum Genet , vol.84 , pp. 698-705
    • Twigg, S.R.1    Versnel, S.L.2    Nürnberg, G.3    Lees, M.M.4    Bhat, M.5    Hammond, P.6
  • 39
    • 0034754798 scopus 로고    scopus 로고
    • Severe nasal clefting and abnormal embryonic apoptosis in Alx3/Alx4 double mutant mice
    • 11641221,.;: –.
    • Beverdam A, Brouwer A, Reijnen M, Korving J, Meijlink F, Severe nasal clefting and abnormal embryonic apoptosis in Alx3/Alx4 double mutant mice. Development. 2001;128:3975–3986. 11641221
    • (2001) Development , vol.128 , pp. 3975-3986
    • Beverdam, A.1    Brouwer, A.2    Reijnen, M.3    Korving, J.4    Meijlink, F.5
  • 40
    • 77952311364 scopus 로고    scopus 로고
    • A primary cilia-dependent etiology for midline facial disorders
    • 20106874,.;: –.
    • Brugmann SA, Allen NC, James AW, Mekonnen Z, Madan E, Helms JA, A primary cilia-dependent etiology for midline facial disorders. Hum Mol Genet. 2010;19:1577–1592. doi: 10.1093/hmg/ddq03020106874
    • (2010) Hum Mol Genet , vol.19 , pp. 1577-1592
    • Brugmann, S.A.1    Allen, N.C.2    James, A.W.3    Mekonnen, Z.4    Madan, E.5    Helms, J.A.6
  • 41
    • 77957666583 scopus 로고    scopus 로고
    • Quantitative analyses link modulation of sonic hedgehog signaling to continuous variation in facial growth and shape
    • 20826528,.;: –.
    • Young NM, Chong HJ, Hu D, Hallgrimsson B, Marcucio RS, Quantitative analyses link modulation of sonic hedgehog signaling to continuous variation in facial growth and shape. Development. 2010;137:3405–3409. doi: 10.1242/dev.05234020826528
    • (2010) Development , vol.137 , pp. 3405-3409
    • Young, N.M.1    Chong, H.J.2    Hu, D.3    Hallgrimsson, B.4    Marcucio, R.S.5
  • 42
    • 67650572769 scopus 로고    scopus 로고
    • Epigenetic control of skull morphogenesis by histone deacetylase 8
    • 19605684,.; (): –.
    • Haberland M, Mokalled MH, Montgomery RL, Olson EN, Epigenetic control of skull morphogenesis by histone deacetylase 8. Genes Dev. 2009;23(14):1625–30. doi: 10.1101/gad.180920919605684
    • (2009) Genes Dev , vol.23 , Issue.14 , pp. 1625-1630
    • Haberland, M.1    Mokalled, M.H.2    Montgomery, R.L.3    Olson, E.N.4
  • 43
    • 84866183822 scopus 로고    scopus 로고
    • HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
    • 22885700,..;: –.
    • Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, et al. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature. 2012;489:313–317. doi: 10.1038/nature1131622885700
    • (2012) Nature , vol.489 , pp. 313-317
    • Deardorff, M.A.1    Bando, M.2    Nakato, R.3    Watrin, E.4    Itoh, T.5    Minamino, M.6
  • 44
    • 84984866874 scopus 로고    scopus 로고
    • Expanding the clinical spectrum of the "HDAC8-phenotype"—Implications for molecular diagnostics, counselling and risk prediction
    • ..;in press.
    • Parenti I, Gervasini C, Pozojevic J, Wendt KS, Watrin E, Azzollini J, et al. Expanding the clinical spectrum of the "HDAC8-phenotype"—Implications for molecular diagnostics, counselling and risk prediction. Clin Genet. 2015;in press.
    • (2015) Clin Genet
    • Parenti, I.1    Gervasini, C.2    Pozojevic, J.3    Wendt, K.S.4    Watrin, E.5    Azzollini, J.6
  • 45
    • 84866329518 scopus 로고    scopus 로고
    • X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face
    • 22889856,..;: –.
    • Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, et al. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. J Med Genet. 2012;49:539–543. doi: 10.1136/jmedgenet-2012-10092122889856
    • (2012) J Med Genet , vol.49 , pp. 539-543
    • Harakalova, M.1    van den Boogaard, M.J.2    Sinke, R.3    van Lieshout, S.4    van Tuil, M.C.5    Duran, K.6
  • 46
    • 84888311437 scopus 로고    scopus 로고
    • A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome
    • 23851939,..;: –.
    • Pohl E, Aykut A, Beleggia F, Karaca E, Durmaz B, Keupp K, et al. A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome. Hum Genet. 2013;132:1311–1320. doi: 10.1007/s00439-013-1337-923851939
    • (2013) Hum Genet , vol.132 , pp. 1311-1320
    • Pohl, E.1    Aykut, A.2    Beleggia, F.3    Karaca, E.4    Durmaz, B.5    Keupp, K.6
  • 47
    • 84887173946 scopus 로고    scopus 로고
    • Pax1 acts as a negative regulator of chondrocyte maturation
    • 24080012,.;: –.
    • Takimoto A, Mohri H, Kokubu C, Hiraki Y, Shukunami C, Pax1 acts as a negative regulator of chondrocyte maturation. Exp Cell Res. 2013;319:3128–3139. doi: 10.1016/j.yexcr.2013.09.01524080012
    • (2013) Exp Cell Res , vol.319 , pp. 3128-3139
    • Takimoto, A.1    Mohri, H.2    Kokubu, C.3    Hiraki, Y.4    Shukunami, C.5
  • 48
    • 84885711722 scopus 로고    scopus 로고
    • The AERO system: a 3D-like approach for recording gene expression patterns in the whole mouse embryo
    • 24146773,..;:.
    • Shimizu H, Kubo A, Uchibe K, Hashimoto M, Yokoyama S, Takada S, et al. The AERO system: a 3D-like approach for recording gene expression patterns in the whole mouse embryo. PLoS One. 2013;8:e75754. doi: 10.1371/journal.pone.007575424146773
    • (2013) PLoS One , vol.8 , pp. e75754
    • Shimizu, H.1    Kubo, A.2    Uchibe, K.3    Hashimoto, M.4    Yokoyama, S.5    Takada, S.6
  • 49
    • 78149348443 scopus 로고    scopus 로고
    • The transcription factor Znf219 regulates chondrocyte differentiation by assembling a transcription factory with Sox9
    • 20940257,..;: –.
    • Takigawa Y, Hata K, Muramatsu S, Amano K, Ono K, Wakabayashi M, et al. The transcription factor Znf219 regulates chondrocyte differentiation by assembling a transcription factory with Sox9. J Cell Sci. 2010;123:3780–3788. doi: 10.1242/jcs.07137320940257
    • (2010) J Cell Sci , vol.123 , pp. 3780-3788
    • Takigawa, Y.1    Hata, K.2    Muramatsu, S.3    Amano, K.4    Ono, K.5    Wakabayashi, M.6
  • 50
    • 84904635209 scopus 로고    scopus 로고
    • Disruptive CHD8 mutations define a subtype of autism early in development
    • 24998929,..;: –.
    • Bernier R, Golzio C, Xiong B, Stessman H, Coe BP, Penn O, et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell. 2014;158:263–276. doi: 10.1016/j.cell.2014.06.01724998929
    • (2014) Cell , vol.158 , pp. 263-276
    • Bernier, R.1    Golzio, C.2    Xiong, B.3    Stessman, H.4    Coe, B.P.5    Penn, O.6
  • 51
    • 20844461826 scopus 로고    scopus 로고
    • A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis
    • 15879175,..;: –.
    • Winn MP, Conlon PJ, Lynn KL, Farrington MK, Creazzo T, Hawkins AF, et al. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science. 2005;308:1801–1804. 15879175
    • (2005) Science , vol.308 , pp. 1801-1804
    • Winn, M.P.1    Conlon, P.J.2    Lynn, K.L.3    Farrington, M.K.4    Creazzo, T.5    Hawkins, A.F.6
  • 52
    • 84893759891 scopus 로고    scopus 로고
    • Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects
    • 24462371,..;: –.
    • Williamson KA, Rainger J, Floyd JA, Ansari M, Meynert A, Aldridge KV, et al. Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. Am J Hum Genet. 2014;94:295–302. doi: 10.1016/j.ajhg.2014.01.00124462371
    • (2014) Am J Hum Genet , vol.94 , pp. 295-302
    • Williamson, K.A.1    Rainger, J.2    Floyd, J.A.3    Ansari, M.4    Meynert, A.5    Aldridge, K.V.6
  • 53
    • 13144306071 scopus 로고    scopus 로고
    • Genome-wide association studies for common diseases and complex traits
    • 15716906,.;: –.
    • Hirschhorn JN, Daly MJ, Genome-wide association studies for common diseases and complex traits. Nat Rev Genet. 2005;6:95–108. 15716906
    • (2005) Nat Rev Genet , vol.6 , pp. 95-108
    • Hirschhorn, J.N.1    Daly, M.J.2
  • 54
    • 84912127714 scopus 로고    scopus 로고
    • Let’s face it—complex traits are just not that simple
    • 25375250,.;:.
    • Hallgrimsson B, Mio W, Marcucio RS, Spritz R, Let’s face it—complex traits are just not that simple. PLoS Genet. 2014;10:e1004724. doi: 10.1371/journal.pgen.100472425375250
    • (2014) PLoS Genet , vol.10 , pp. e1004724
    • Hallgrimsson, B.1    Mio, W.2    Marcucio, R.S.3    Spritz, R.4
  • 56
    • 38849091429 scopus 로고    scopus 로고
    • Three-dimensional morphometric analysis of craniofacial shape in the unaffected relatives of individuals with nonsyndromic orofacial clefts: a possible marker for genetic susceptibility
    • 18203157,..;: –.
    • Weinberg SM, Neiswanger K, Richtsmeier JT, Maher BS, Mooney MP, Siegel MI, et al. Three-dimensional morphometric analysis of craniofacial shape in the unaffected relatives of individuals with nonsyndromic orofacial clefts: a possible marker for genetic susceptibility. Am J Med Genet Part A. 2008;146A:409–420. doi: 10.1002/ajmg.a.3217718203157
    • (2008) Am J Med Genet Part A , vol.146A , pp. 409-420
    • Weinberg, S.M.1    Neiswanger, K.2    Richtsmeier, J.T.3    Maher, B.S.4    Mooney, M.P.5    Siegel, M.I.6
  • 57
    • 84978651819 scopus 로고    scopus 로고
    • The 3D Facial Norms Database: Part 1. A web-based craniofacial anthropometric and image repository for the clinical and research community
    • ..;in press.
    • Weinberg SM, Raffensperger ZD, Kesterke MJ, Heike CL, Cunningham ML, Hecht JT, et al. The 3D Facial Norms Database: Part 1. A web-based craniofacial anthropometric and image repository for the clinical and research community. Cleft Palate Craniofac J. 2015;in press.
    • (2015) Cleft Palate Craniofac J
    • Weinberg, S.M.1    Raffensperger, Z.D.2    Kesterke, M.J.3    Heike, C.L.4    Cunningham, M.L.5    Hecht, J.T.6
  • 58
    • 79959258560 scopus 로고    scopus 로고
    • The FaceBase Consortium: A comprehensive program to facilitate craniofacial research
    • 21458441,..;: –.
    • Hochheiser H, Aronow BJ, Artinger K, Beaty TH, Brinkley JF, Chai Y, et al. The FaceBase Consortium: A comprehensive program to facilitate craniofacial research. Dev Biol. 2011;355:175–182. doi: 10.1016/j.ydbio.2011.02.03321458441
    • (2011) Dev Biol , vol.355 , pp. 175-182
    • Hochheiser, H.1    Aronow, B.J.2    Artinger, K.3    Beaty, T.H.4    Brinkley, J.F.5    Chai, Y.6
  • 59
    • 41649113715 scopus 로고    scopus 로고
    • Completing the 3-dimensional picture
    • 18405826,.;: –.
    • Lane C, Harrell W, Completing the 3-dimensional picture. Am J Orthod Dentofacial Orthop. 2008;133:612–620. doi: 10.1016/j.ajodo.2007.03.02318405826
    • (2008) Am J Orthod Dentofacial Orthop , vol.133 , pp. 612-620
    • Lane, C.1    Harrell, W.2
  • 62
    • 77956242566 scopus 로고    scopus 로고
    • Quality control and quality assurance in genotypic data for genome-wide association studies
    • 20718045,..;: –.
    • Laurie CC, Doheny KF, Mirel DB, Pugh EW, Bierut LJ, Bhangale T, et al. Quality control and quality assurance in genotypic data for genome-wide association studies. Genet Epidemiol. 2010;34:591–602. doi: 10.1002/gepi.2051620718045
    • (2010) Genet Epidemiol , vol.34 , pp. 591-602
    • Laurie, C.C.1    Doheny, K.F.2    Mirel, D.B.3    Pugh, E.W.4    Bierut, L.J.5    Bhangale, T.6
  • 63
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • 23128226,..;: –.
    • 1000 Genomes Project ConsortiumAbecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491:56–65. doi: 10.1038/nature1163223128226
    • (2012) Nature , vol.491 , pp. 56-65
    • Abecasis, G.R.1    Auton, A.2    Brooks, L.D.3    DePristo, M.A.4    Durbin, R.M.5
  • 64
    • 84871952176 scopus 로고    scopus 로고
    • Improved whole-chromosome phasing for disease and population genetic studies
    • 23269371,.;: –.
    • Delaneau O, Zagury JF, Marchini J, Improved whole-chromosome phasing for disease and population genetic studies. Nat Methods. 2013;10:5–6. doi: 10.1038/nmeth.230723269371
    • (2013) Nat Methods , vol.10 , pp. 5-6
    • Delaneau, O.1    Zagury, J.F.2    Marchini, J.3
  • 65
    • 67651222400 scopus 로고    scopus 로고
    • A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
    • 19543373,.;:.
    • Howie B, Donnelly P, Marchini J, A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet. 2009;5:e1000529. doi: 10.1371/journal.pgen.100052919543373
    • (2009) PLoS Genet , vol.5 , pp. e1000529
    • Howie, B.1    Donnelly, P.2    Marchini, J.3
  • 66
    • 84863845193 scopus 로고    scopus 로고
    • Genotype imputation with thousands of genomes
    • 22384356,.;: –.
    • Howie B, Marchini J, Stephens M, Genotype imputation with thousands of genomes. G3. 2011;1:457–470. doi: 10.1534/g3.111.00119822384356
    • (2011) G3 , vol.1 , pp. 457-470
    • Howie, B.1    Marchini, J.2    Stephens, M.3
  • 67
    • 30744434862 scopus 로고    scopus 로고
    • Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix
    • 16077740,.;: –.
    • Li J, Ji L, Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix. Heredity. 2005;95:221–227. 16077740
    • (2005) Heredity , vol.95 , pp. 221-227
    • Li, J.1    Ji, L.2
  • 68
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: a tool set for whole-genome association and population-based linkage analyses
    • 17701901,..;: –.
    • Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559–575. 17701901
    • (2007) Am J Hum Genet , vol.81 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3    Thomas, L.4    Ferreira, M.A.5    Bender, D.6


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