Mohamad Shah NS, Sulong S, Wan Sulaiman WA, Halim AS. Two novel genes TOX3 and COL21A1 in large extended malay families with nonsyndromic cleft lip and/or palate. Mol Genet Genomic Med. 2019;7:e635.
Article PubMed PubMed Central Google Scholar
Mossey PA, Modell B. Epidemiology of oral clefts 2012: an international perspective. Cleft Lip Palate Epidemiol Aetiol Treat. 2012;16:1–18.
Hoebel AK, Van De Drichel D, Böhmer AC, Sivalingam S, Ishorst N, et al. Candidate genes for nonsyndromic cleft palate detected by Exome sequencing. J Dent Res. 2017;96:1314–21.
Abd Rahman N, Abdullah N, Samsudin AR, Naing L. Dental anomalies and facial profile abnormality of the non-syndromic cleft lip and palate children in Kelantan. Malays J Med Sci. 2004;11(2):41–51.
PubMed PubMed Central Google Scholar
Jamilian A, Lucchese A, Darnahal A, Kamali Z, Perillo L. Cleft sidedness and congenitally missing teeth in patients with cleft lip and palate patients. Prog Orthod. 2016;17:1–4.
Al-Ani AH, Antoun JS, Thomson WM, Merriman TR, Farella M. Hypodontia: an update on its etiology, classification, and clinical management. Biomed Res Int. 2017;2017.
Paranaiba LMR, Coletta RD, Swerts MSO, Quintino RP, De Barros LM, Martelli-Junior H. Prevalence of dental anomalies in patients with nonsyndromic cleft lip and/or palate in a brazilian population. Cleft Palate-Craniofacial J. 2013;50:400–5.
Slayton RL, Williams L, Murray JC, Wheeler JJ, Lidral AC, Nishimura CJ. Genetic Association Studies of Cleft lip and/or palate with Hypodontia outside the Cleft Region. Cleft Palate-Craniofacial J. 2003;40:274–9.
Letra A, Fakhouri W, Fonseca RF, Menezes R, Kempa I, Prasad JL, et al. Interaction between IRF6 and TGFA genes contribute to the risk of nonsyndromic cleft Lip/Palate. PLoS ONE. 2012;7:e45441.
Article PubMed PubMed Central Google Scholar
Wang B, Li H, Liu Y, Lin X, Lin Y, Wang Y, et al. Expression patterns of WNT/β-CATENIN signaling molecules during human tooth development. J Mol Histol 2014 455. 2014;45:487–96.
Ghassibe-Sabbagh M, Desmyter L, Langenberg T, Claes F, Boute O, Bayet B, et al. FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish. Am J Hum Genet. 2011;88:150.
Article PubMed PubMed Central Google Scholar
Mbuyi-Musanzayi S, Kasamba EI, Revencu N, Lukusa PT, Kalenga PM, Tshilombo FK, et al. Microdeletion of the entire IRF6 gene in a Subsaharian African’s family with Van der Woude syndrome. Clin Dysmorphol. 2020;29:24–7.
Kousa YA, Schutte BC. Toward an orofacial gene regulatory network. Dev Dyn. 2016;245:220–32.
He M, Bian Z. Lack of association between missense variants in GRHL3 (rs2486668 and rs545809) and susceptibility to non-syndromic Orofacial Clefts in a Han Chinese Population. PLoS ONE. 2016;11:e0159940.
Article PubMed PubMed Central Google Scholar
Peyrard-Janvid M, Leslie EJ, Kousa YA, Smith TL, Dunnwald M, Magnusson M, et al. Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral Periderm Development. Am J Hum Genet. 2014;94:23–32.
Article PubMed PubMed Central Google Scholar
Ghassibe-Sabbagh M, Desmyter L, Langenberg T, Claes F, Boute O, Bayet B, et al. FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish. Am J Hum Genet. 2011;88:150–61.
Article PubMed PubMed Central Google Scholar
Chiquet BT, Blanton SH, Burt A, Ma D, Stal S, Mulliken JB, et al. Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate. Hum Mol Genet. 2008;17:2212–8.
Article PubMed PubMed Central Google Scholar
Tamura M, Nemoto E. Role of the wnt signaling molecules in the tooth. Jpn Dent Sci Rev. 2016;52:75–83.
Article PubMed PubMed Central Google Scholar
Nie X, Luukko K, Kettunen P. BMP signalling in craniofacial development. Int J Dev Biol. 2004;50:511–21.
Phan M, Conte F, Khandelwal KD, Ockeloen CW, Bartzela T, Kleefstra T, et al. Tooth agenesis and orofacial clefting: genetic brothers in arms? Hum Genet. 2016;135:1299–327.
Article PubMed PubMed Central Google Scholar
Schinzel A, Schmid W. Interstitial deletion of the long arm of chromosome 1, del(1)(q21-q25) in a profoundly retarded 8-year-old girl with multiple anomalies. Clin Genet. 1980;18:305–13.
Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet 2006 72. 2006;7:85–97.
Ghazali N, Abd Rahman N, Ahmad A, Sulong S, Kannan TP. Identification of Copy Number Variation among Nonsyndromic Cleft lip and or without cleft palate with Hypodontia: A genome-wide Association study. Front Physiol. 2021;12:87.
Simioni M, Araujo T, … IM-J of human, 2015 undefined. Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation. nature.com.
O’Keefe C, McDevitt MA, Maciejewski JP. Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignancies. Blood. 2010;115:2731.
Article PubMed PubMed Central Google Scholar
Wu D, Wang M, Wang X, Yin N, Song T, Li H, et al. Maternal transmission effect of a PDGF-C SNP on nonsyndromic cleft lip with or without palate from a Chinese Population. PLoS ONE. 2012;7:e46477.
Article PubMed PubMed Central Google Scholar
Hagenkord JM, Monzon FA, Kash SF, Lilleberg S, Xie Q, Kant JA. Array-based Karyotyping for Prognostic Assessment in Chronic lymphocytic leukemia: performance comparison of Affymetrix 10K2.0, 250K nsp, and SNP6.0 arrays. J Mol Diagnostics. 2010;12:184–96.
Zhou S, Wang H, Wang QK, Wang P, Wang F, Xu C. Loss of heterozygosity detected at three short tandem repeat locus commonly used for human DNA identification in a case of paternity testing. Leg Med. 2017;24:7–11.
Menges CW, Altomare DA, Testa JR. FAS-Associated factor 1 (FAF1): diverse functions and implications for oncogenesis NIH Public Access. Cell Cycle. 2009;8:2528–34.
Li L, Wang Y, Lin M, Yuan G, Yang G, Zheng Y, et al. Augmented BMPRIA-Mediated BMP signaling in cranial neural crest lineage leads to cleft palate formation and delayed tooth differentiation. PLoS ONE. 2013;8:e66107.
Article PubMed PubMed Central Google Scholar
Menges CW, Altomare DA, Testa JR. FAS-Associated factor 1 (FAF1): diverse functions and implications for oncogenesis. Cell Cycle. 2009;8:2528.
Zhang L, Zhou F, Van Laar T, Zhang J, Van Dam H, Ten Dijke P. Fas-associated factor 1 antagonizes wnt signaling by promoting β-catenin degradation. Mol Biol Cell. 2011;22:1617–24.
Article PubMed PubMed Central Google Scholar
Acebron SP, Karaulanov E, Berger BS, Huang YL, Niehrs C. Mitotic wnt signaling promotes protein stabilization and regulates cell size. Mol Cell. 2014;54:663–74.
Liu F, Millar SE. Wnt/β-catenin signaling in oral tissue development and disease. J Dent Res. 2010;89:318.
Article PubMed PubMed Central Google Scholar
Chen J, Lan Y, Baek JA, Gao Y, Jiang R. Wnt/beta-catenin signaling plays an essential role in activation of odontogenic mesenchyme during early tooth development. Dev Biol. 2009;334:174–85.
Article PubMed PubMed Central Google Scholar
Reynolds K, Kumari P, Rincon LS, Gu R, Ji Y, Kumar S et al. Wnt signaling in orofacial clefts: crosstalk, pathogenesis and models. Dis Model Mech. 2019;12.
Xie F, Jin K, Shao L, Fan Y, Tu Y, Li Y, et al. FAF1 phosphorylation by AKT accumulates TGF-β type II receptor and drives breast cancer metastasis. Nat Commun 2017 81. 2017;8:1–16.
Ji Y, Garland MA, Sun B, Zhang S, Reynolds K, McMahon M, et al. Cellular and developmental basis of orofacial clefts. Birth Defects Res. 2020;112:1558–87.
Article PubMed PubMed Central Google Scholar
Tapia-Carrillo D, Tovar H, Velazquez-Caldelas TE, Hernandez-Lemus E. Master regulators of signaling pathways: an application to the analysis of gene regulation in breast Cancer. Front Genet. 2019;10:1180.
Article PubMed PubMed Central Google Scholar
Mani P, Jarrell A, Myers J, Atit R. Visualizing canonical wnt signaling during mouse craniofacial development. Dev Dyn. 2010;239:354–63.
Article PubMed PubMed Central Google Scholar
Tamura M, Nemoto E. Role of the wnt signaling molecules in the tooth. Jpn Dent Sci Rev. 2016;52:75.
Article PubMed PubMed Central Google Scholar
Wang RN, Green J, Wang Z, Deng Y, Qiao M, Peabody M, et al. Bone morphogenetic protein (BMP) signaling in development and human diseases. Genes Dis. 2014;1:87.
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