Yu Q, He
S, Zeng N, Ma J, Zhang B, Shi B, Jia Z. BMP7 Gene involved in nonsyndromic
orofacial clefts in Western
han Chinese.
Med
Oral Patol Oral Cir Bucal. 2015 May 1;20
(3):e298-304.
doi:10.4317/medoral.20335
http://dx.doi.org/doi:10.4317/medoral.20335
|
1.
Murray JC. Gene/environment causes of cleft lip and/or palate. Clin
Genet. 2002;61:248-56. |
|
|
|
|
|
2.
Hashmi SS, Waller DK, Langlois P, Canfield M, Hecht JT. Prevalence of nonsyndromic oral clefts in
Texas: 1995–1999. Am J Med Genet A. 2005;134:368-72. |
|
|
|
|
|
3.
Dai L, Zhu J, Mao M, Li
Y, Deng Y, Wang Y, et al. Time trends
in oral clefts in Chinese
newborns: data from the Chinese National
Birth Defects Monitoring Network. Birth Defects Res A Clin Mol Teratol. 2010;88:41-7. |
|
|
|
|
|
4.
Zucchero TM, Cooper ME, Maher
BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, et al.
Interferon regulatory
factor 6 (IRF6) gene variants and the risk of isolated
cleft lip or palate. N Engl J Med. 2004;351:769-80. |
|
|
|
|
|
5.
Chen Q, Wang H, Hetmanski
JB, Zhang T, Ruczinski I, Schwender
H, et al. BMP4 was associated
with NSCL/P in an Asian population. PLoS One. 2012;7:e35347. |
|
|
|
|
|
6.
Marazita ML. The evolution of human genetic studies of cleft lip and cleft palate. Annu Rev Genomics Hum Genet. 2012;13:263-83. |
|
|
|
|
|
7.
Mangold E, Ludwig KU, Nothen
MM. Breakthroughs in the genetics of orofacial clefting. Trends Mol Med. 2011;17:725-33. |
|
|
|
|
|
8.
Kouskoura T, Fragou N, Alexiou M, John N, Sommer L,
Graf D, et al. The genetic
basis of craniofacial and
dental abnormalities. Schweiz
Monatsschr Zahnmed.
2011;121:636-46. |
|
|
|
|
|
9.
Grosen D, Bille C, Petersen I, Skytthe A, Hjelmborg JV, Pedersen JK, et
al. Risk of oral clefts
in twins. Epidemiology.
2011;22:313-9. |
|
|
|
|
|
10.
Wozney JM, Rosen V, Celeste AJ, Mitsock
LM, Whitters MJ, Kriz RW,
et al. Novel regulators of bone
formation: molecular clones and activities.
Science. 1988;242:1528-34. |
|
|
|
|
|
11.
Ashique AM, Fu K, Richman
JM. Endogenous bone morphogenetic proteins regulate outgrowth and epithelial survival during avian lip fusion. Development.
2002;129:4647-60. |
|
|
|
|
|
12.
Liu W, Sun X, Braut A, Mishina Y, Behringer RR, Mina M, et al. Distinct
functions for Bmp signaling in lip and palate fusion in mice. Development. 2005;132:1453-61. |
|
|
|
|
|
13.
Liu W, Selever J, Murali D, Sun X, Brugger SM, Ma L, et al. Threshold-specific requirements
for Bmp4 in mandibular development.
Dev Biol. 2005;283:282-93. |
|
|
|
|
|
14.
Suzuki S, Marazita ML, Cooper ME, Miwa N, Hing A, Jugessur A, et al. Mutations in
BMP4 are associated with subepithelial, microform, and overt cleft lip.
Am J Hum Genet.
2009;84:406-11. |
|
|
|
|
|
15.
Parada C, Chai Y. Roles of BMP signaling
pathway in lip and palate development. Front Oral
Biol. 2012;16:60-70. |
|
|
|
|
|
16.
Zouvelou V, Luder HU, Mitsiadis TA, Graf D. Deletion
of BMP7 affects the development of bones, teeth, and other ectodermal appendages of the orofacial complex. J Exp Zool B Mol Dev Evol. 2009;312:361-74. |
|
|
|
|
|
17.
Wyatt AW, Osborne RJ,
Stewart H, Ragge NK. Bone
morphogenetic protein 7
(BMP7) mutations are associated
with variable ocular, brain,
ear, palate, and skeletal anomalies. Hum Mutat. 2010;31:781-7. |
|
|
|
|
|
18.
Kouskoura T, Kozlova A, Alexiou M, Blumer S, Zouvelou V, Katsaros C, et al. The etiology of cleft palate formation in BMP7-deficient mice.
PLoS One. 2013;8:e59463. |
|
|
|
|
|
19.
Kaartinen V, Voncken JW, Shuler C, Warburton D, Bu D, Heisterkamp N, et al. Abnormal lung development and cleft palate in mice lacking TGF-beta 3 indicates defects of epithelial-mesenchymal
interaction. Nat Genet. 1995;11:415-21. |
|
|
|
|
|
20.
Proetzel G, Pawlowski SA,
Wiles MV, Yin M, Boivin
GP, Howles PN, et al. Transforming
growth factor-beta 3 is required for secondary palate fusion. Nat Genet.
1995;11:409-14. |
|
|
|
|
|
21.
Satokata I, Maas R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet. 1994;6:348-56. |
|
|
|
|
|
22.
Butali A, Mossey PA, Adeyemo WL, Jezewski PA, Onwuamah CK, Ogunlewe MO, et
al. Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders. Cleft Palate Craniofac J.
2011;48:646-53. |
|
|
|
|
|
23.
Tongkobpetch S, Siriwan
P, Shotelersuk V. MSX1 mutations
contribute to nonsyndromic cleft lip in a Thai population. J Hum Genet. 2006;51:671-6. |
|
|
|
|
|
24.
Suzuki Y, Jezewski PA, Machida
J, Watanabe Y, Shi M,
Cooper ME, et al. In a Vietnamese population, MSX1 variants contribute to cleft lip and palate. Genet Med. 2004;6:117-25. |
|
|
|
|
|
25.
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;24:342-3. |
|
|
|
|
|
26.
Kim NY, Kim YH, Park JW, Baek SH. Association between MSX1 SNPs and nonsyndromic cleft lip with
or without cleft palate in the Korean population.
J Korean Med Sci. 2013;28:522-6. |
|
|
|
|
|
27.
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;81:559-75. |
|
|
|
|
|
28.
Grosen D, Chevrier C, Skytthe A, Bille C, M¿lsted K, Sivertsen A, et al.
A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases
in Denmark: support for the multifactorial threshold model of inheritance. J Med Genet. 2010;47:162-8. |
|
|
|
|
|
29.
Lawson HA, Cheverud JM,
Wolf JB. Genomic imprinting
and parent-of-origin effects on complex
traits. Nat Rev Genet. 2013;14:609-17. |
|
|
|
|
|
30.
Weinberg CR. Methods for detection of parent-of-origin effects in genetic studies of case-parents triads. Am J Hum Genet. 1999;65:229-35. |
|
|
|
|
|
31.
Hager R, Cheverud JM,
Wolf JB. Maternal effects as the
cause of parent-of-origin
effects that mimic genomic imprinting. Genetics.
2008;178:1755-62. |
|
|
|
|
|
32.
Malquori L, Carsetti L, Ruberti G. The 3' UTR of the human CTLA4 mRNA can regulate mRNA stability and translational efficiency. Biochim Biophys Acta. 2008;1779:60-5. |
|
|
|
|
|
33.
Zhao C, Hamilton T. Introns
regulate the rate of unstable mRNA decay. J Biol Chem. 2007;282:20230-7. |
|
|
|
|
|
34.
Rahimov F, Marazita ML, Visel A, Cooper ME, Hitchler
MJ, Rubini M, et al. Disruption
of an AP-2alpha binding site in an IRF6 enhancer is associated
with cleft lip. Nat Genet.
2008;40:1341-7. |
|
|
|
|
|
35.
Choi SJ, Marazita ML, Hart PS, Sulima PP, Field LL, McHenry TG, et al. The PDGF-C regulatory region SNP
rs28999109 decreases promoter
transcriptional activity
and is associated with CL/P. Eur J Hum Genet. 2009;17:774-84. |
|
|
|
|
|
36.
Lawson HA, Cheverud JM,
Wolf JB. Genomic imprinting
and parent-of-origin effects on complex
traits. Nat Rev Genet. 2013;14:609-17. |
|
|
|
|
|
37.
Weinberg CR. Methods for detection of parent-of-origin effects in genetic studies of case-parents triads. Am J Hum Genet. 1999;65:229-35. |
|
|
|
|
|
38.
Hager R, Cheverud JM,
Wolf JB. Maternal effects as the
cause of parent-of-origin
effects that mimic genomic imprinting. Genetics.
2008;178:1755-62. |
|
|
|
|
|
39.
Kim JW, Choi H, Jeong BC,
Oh SH, Hur SW, Lee BN, et al. Transcriptional
factor ATF6 is involved
in odontoblastic differentiation.
J Dent Res. 2014;93:483-9. |
|
|
|
|
|
40.
Zhang Z, Song Y, Zhao X,
Zhang X, Fermin C, Chen
Y. Rescue of cleft palate in Msx1-deficient mice by transgenic Bmp4 reveals a network of BMP and Shh signaling in the regulation of mammalian palatogenesis. Development. 2002;129:4135-46. |
|
|
|
|
|
41.
Dixon MJ, Marazita ML, Beaty
TH, Murray JC. Cleft lip
and palate:understanding genetic
and environmental influences.
Nat Rev Genet. 2011;12:167-78. |
|