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NEW RESEARCH FROM THE CARC 

Human Molecular Genetics, 2016 February

Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate.

Liu H., Leslie E.J., Jia Z., Smith T., Eshete M., Butali A., Dunnwald M., Murray J., Cornell R.A.  (2016) Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate. 

American Journal of Human Genetics 2016 April

A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.

Leslie, E.J., Liu, H., Carlson, J.C., Shaffer, J.R., Feingold, E., Wehby, G., Laurie, C.A., Jain, D., Laurie, C.C., Doheny, K.F., McHenry, T., Resick, J., Sanchez, C., Jacobs, J., Emanuele, B., Vieira, A.R., Neiswanger, K., Standley, J., Czeizel, A.E., Deleyiannis, F., Christensen, K., Munger, R.G., Lie, R.T., Willcox, A., Romitti, P.A., Field, L.L., Padilla, C.D., Cutiongco-de la Paz, E.M.C., Lidral, A.C., Valencia-Ramirez, L.C., Lopez-Palacio, A.M., Valencia, D.R., Arcos-Burgos, M., Eduardo E. Castilla, E.E., Mereb, J.C., Poletta, F.A., Orioli, I.M., Carvalho, F.M., Hecht, J.T., Blanton, S.H., Buxó, C.J., Butali, A., Mossey, P.A., Adeyemo, W.L., James, O., Aregbesola, B.S., Mekonen A. Eshete, M.A., Gowans, L.J.J., Donkor, P., Koruyucu, M., Seymen, F., Ma, L., de Salamanca, J.E., Weinberg, S.M., Moreno, L., Cornell, R.A., Murray, J.C., Marazita, M.L. (2016) A genome-wide association study of nonsyndromic cleft palate identifies an etiologic missense variant in GRHL3.   98(4):744-54

Birth Defects Research Part A: Clinical and Molecular Teratology 2016 December

Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.

Liu, H., Busch T., Eliason, S., Anand, D., Bullard, S., Gowans, L.J.J., Nidey, N., Saadi, I., Lachke, S.A., Zhu, Y., Adeyemo, A., Amendt, B., Roscioli, T., Cornell, R.A., Murray, J., Butali, A.  (2016) Exome Sequencing Confirms the Role of ARHGAP29 in Mendelian Orofacial Clefting. Birth Defects Research Part A: Clinical and Molecular Teratology 2016 Dec 28. doi: 10.1002/bdra.23596. PubMed PMID: 28029220.

Nature Communications  January 2017

Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting

Liu, H., Leslie E.J., Carlson, J.C., Beaty, T.H., Marazita, M.L., Lidral, A.C., Cornell, R.A. (2017) Identification of common, non-coding variants at 1p22 that are pathogenic for non-syndromic orofacial clefting, Nature Communications 8:14759. doi: 10.1038/ncomms14759.

Journal of Dental Research 2017 September

Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.

Eshete MA, Liu H, Li M, Adeyemo WL, Gowans LJJ, Mossey PA, Busch T, Deressa W, Donkor P, Olaitan PB, Aregbesola BS, Braimah RO, Oseni GO, Oginni F, Audu R, Onwuamah C, James O, Augustine-Akpan E, Rahman LA, Ogunlewe MO, Arthur FKN, Bello SA, Agbenorku P, Twumasi P, Abate F, Hailu T, Demissie Y, Hailu A, Plange-Rhule G, Obiri-Yeboah S, Dunnwald MM, Gravem PE, Marazita ML, Adeyemo AA, Murray JC, Cornell RA, Butali A. (2017) Loss-of-function GRHL3 variants detected in African patients with isolated cleft palate. J Dent Res. 2017 Sep 1:22034517729819. doi: 10.1177/0022034517729819

Developmental Dynamics 2017 November

Zebrafish models of orofacial clefts.

Duncan K, Mukherjee K, Cornell RA, Liao EC. (2017) Zebrafish models of orofacial clefts Dev Dyn. doi: 10.1002/dvdy.24566. Review.

Genetics. 2017 November

Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans.

Lansdon LA, Darbro BW, Petrin AL, Hulstrand AM, Standley JM, Brouillette RB, Long A, Mansilla MA, Cornell RA, Murray JC, Houston DW, Manak JR. (2017) Identification of Isthmin1 as a novel clefting and craniofacial patterning gene in humans. Genetics. 2017 Nov 21. pii: genetics.300535.2017. doi: 10.1534/genetics.117.300535. PMID:29162626

Genetic Epidemiology 2017 December

Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes.

Carlson JC, Standley J, Petrin A, Shaffer JR, Butali A, Buxó CJ, Castilla E, Christensen K, Deleyiannis FW, Hecht JT, Field LL, Garidkhuu A, Moreno Uribe LM, Nagato N, Orioli IM, Padilla C, Poletta F, Suzuki S, Vieira AR, Wehby GL, Weinberg SM, Beaty TH, Feingold E, Murray JC, Marazita ML, Leslie EJ.  Genet Epidemiol. 2017 Dec;41(8):887-897. doi: 10.1002/gepi.22090. Epub 2017 Nov 10.

Molecular Genetics & Genomic Medicine 2017 September

Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families.

Holzinger ER, Li Q, Parker MM, Hetmanski JB, Marazita ML, Mangold E, Ludwig KU, Taub MA, Begum F, Murray JC, Albacha-Hejazi H, Alqosayer K, Al-Souki G, Albasha Hejazi A, Scott AF, Beaty TH, Bailey-Wilson JE.Mol Genet Genomic Med. 2017 Aug 9;5(5):570-579. doi: 10.1002/mgg3.320. eCollection 2017 Sept. PMID: 28944239 

PLOS One 2017 September

Genome-wide analysis of parent-of-origin interaction effects with environmental exposure (PoOxE): An application to European and Asian cleft palate trios.

Haaland ØA, Jugessur A, Gjerdevik M, Romanowska J, Shi M, Beaty TH, Marazita ML, Murray JC, Wilcox AJ, Lie RT, Gjessing HK.PLoS One. 2017 Sep 12;12(9):e0184358. doi: 10.1371/journal.pone.0184358. eCollection 2017.PMID: 28898263 

Journal of Dental Research 2017 August

The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.

Lansdon LA, Bernabe HV, Nidey N, Standley J, Schnieders MJ, Murray JC1 J Dent Res. 2017 Oct;96(11):1339-1345. doi: 10.1177/0022034517726496. Epub 2017 Aug 21.

Journal of Dental Research 2017 October

ARHGAP29 Mutation Is Associated with Abnormal Oral Epithelial Adhesions.

Paul BJ, Palmer K, Sharp JC, Pratt H, Murray SA, Dunnwald M.  “Oral cleft patient-derived ARHGAP29 mutation causes lethality and oral adhesions in mice.” J Dent Res. 2017 Oct;96(11):1298-1305. doi: 10.1177/0022034517726079. Epub 2017 Aug 17.

Journal of Dental Research 2017 September

Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.

Eshete MA, Liu H, Li M, Adeyemo WL, Gowans LJJ, Mossey PA, Busch T, Deressa W, Donkor P, Olaitan PB, Aregbesola BS, Braimah RO, Oseni GO, Oginni F, Audu R, Onwuamah C, James O, Augustine-Akpan E, Rahman LA, Ogunlewe MO, Arthur FKN, Bello SA, Agbenorku P, Twumasi P, Abate F, Hailu T, Demissie Y, Hailu A, Plange-Rhule G, Obiri-Yeboah S, Dunnwald MM, Gravem PE, Marazita ML, Adeyemo AA, Murray JC, Cornell RA, Butali A.J Dent Res. 2017 Sep 1:22034517729819. doi: 10.1177/0022034517729819.

Journal of the Korean Association of Oral and Maxillofacial Surgeons 2017 August

A comparative study of quality of life of families with children born with cleft lip and/or palate before and after surgical treatment.

Emeka CI, Adeyemo WL, Ladeinde AL, Butali A. J Korean Assoc Oral Maxillofac Surg. 2017 Aug;43(4):247-255. doi: 10.5125/jkaoms.2017.43.4.247. Epub 2017 Aug 24.

Cancer Cell International 2017 June

Omics-based molecular techniques in oral pathology centred cancer: prospect and challenges in Africa.

Adeola HA, Soyele OO, Adefuye AO, Jimoh SA, Butali A. Cancer Cell Int. 2017 Jun 5;17:61. doi: 10.1186/s12935-017-0432-8. eCollection 2017. Review.

Molecular Genetics and Genomic Medicine 2017 March

The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan Africa.

Gowans LJ, Busch TD, Mossey PA, Eshete MA, Adeyemo WL, Aregbesola B, Donkor P, Arthur FK, Agbenorku P, Olutayo J, Twumasi P, Braimah R, Oti AA, Plange-Rhule G, Obiri-Yeboah S, Abate F, Hoyte-Williams PE, Hailu T, Murray JC, Butali A. Mol Genet Genomic Med. 2017 Jan 12;5(2):164-171. doi: 10.1002/mgg3.273. eCollection 2017 Mar.

Annals of Maxillofacial Surgery 2016 July

Cleft lip and palate: Parental experiences of stigma, discrimination, and social/structural inequalities.

Adeyemo WL, James O, Butali A.  Ann Maxillofac Surg. 2016 Jul-Dec;6(2):195-203. doi: 10.4103/2231-0746.200336.

Molecular Genetics and Genomic Medicine 2017 January

Genetics and genomics etiology of nonsyndromic orofacial clefts.

Adeyemo WL, Butali A.  Mol Genet Genomic Med. 2017 Jan 17;5(1):3-7. doi: 10.1002/mgg3.272. eCollection.

Birth Defects Research 2017 January

Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.

Liu H, Busch T, Eliason S, Anand D, Bullard S, Gowans LJJ, Nidey N, Petrin A, Augustine-Akpan EA, Saadi I, Dunnwald M, Lachke SA, Zhu Y, Adeyemo A, Amendt B, Roscioli T, Cornell R, Murray J, Butali A.  Birth Defects Res. 2017 Jan 20;109(1):27-37. doi: 10.1002/bdra.23596.