Smarius B, Loozen C, Manten W, Bekker M, Pistorius L, Breugem C. Accurate diagnosis of prenatal cleft lip/palate by understanding the embryology. World J Methodol. 2017;7:93–100.
Article PubMed PubMed Central Google Scholar
Rahimov F, Jugessur A, Murray JC. Genetics of nonsyndromic orofacial clefts. Cleft Palate Craniofac J. 2012;49:73–91.
Dixon MJ, Marazita ML, Beaty TH, Murray JC. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet. 2011;12:167–78.
Article PubMed PubMed Central Google Scholar
Beaty TH, Hetmanski JB, Zeiger JS, Fan YT, Liang KY, VanderKolk CA, et al. Testing candidate genes for non-syndromic oral clefts using a case-parent trio design. Genet Epidemiol. 2002;22:1–11.
Birnbaum S, Ludwig KU, Reutter H, Herms S, Steffens M, Rubini M, et al. Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet. 2009;41:473–7.
Mangold E, Ludwig KU, Birnbaum S, Baluardo C, Ferrian M, Herms S, et al. Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet. 2010;42:24–6.
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;42:525–9.
Article PubMed PubMed Central Google Scholar
Ludwig KU, Mangold E, Herms S, Nowak S, Reutter H, Paul A, et al. Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nat Genet. 2012;44:968–71.
Article PubMed PubMed Central Google Scholar
Sun Y, Huang Y, Yin A, Pan Y, Wang Y, Wang C, et al. Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate. Nat Commun. 2015;6:6414.
Leslie EJ, Carlson JC, Shaffer JR, Feingold E, Wehby G, Laurie CA, et al. A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13. Hum Mol Genet 2016;25:2862–72.
PubMed PubMed Central Google Scholar
Yu Y, Zuo X, He M, Gao J, Fu Y, Qin C, et al. Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. Nat Commun. 2017;8:14364.
Article PubMed PubMed Central Google Scholar
Huang L, Jia Z, Shi Y, Du Q, Shi J, Wang Z, et al. Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft. PLoS Genet. 2019;15:e1008357.
Article PubMed PubMed Central Google Scholar
Li B, Yong L, Yu Y, Yu Y, Zhen Q, Ge H, et al. Genome-wide analyses of nonsyndromic cleft lip with or without palate identify 20 new risk loci in the Chinese Han population. J Genet Genomics. 2022;49:903–5.
Leslie EJ, Liu H, Carlson JC, Shaffer JR, Feingold E, Wehby G, et al. A genome-wide association study of nonsyndromic cleft palate identifies an etiologic missense variant in GRHL3. Am J Hum Genet. 2016;98:744–54.
Article PubMed PubMed Central Google Scholar
Butali A, Mossey PA, Adeyemo WL, Eshete MA, Gowans LJJ, Busch TD, et al. Genomic analyses in African populations identify novel risk loci for cleft palate. Hum Mol Genet. 2019;28:1038–51.
He M, Zuo X, Liu H, Wang W, Zhang Y, Fu Y, et al. Genome-wide analyses identify a novel risk locus for nonsyndromic cleft palate. J Dent Res. 2020;99:1461–8.
Article PubMed PubMed Central Google Scholar
Li MJ, Kumari P, Lin YS, Yao ML, Zhang BH, Yin B, et al. A variant in the IRF6 promoter associated with the risk for orofacial clefting. J Dent Res. 2023;102:806–13.
Sun JL, Shi JY, Yin B, Lin YS, Shi B, Jia ZL. Association analysis of SNPs in GRHL3, FAF1, and KCNJ2 with NSCPO sub-phenotypes in Han Chinese. Oral Dis. 2022;28:2204–14.
Zhang JX, Arneja JS. Evidence-based medicine: the bilateral cleft lip repair. Plast Reconstr Surg. 2017;140:152E–65E.
Carlson JC, Taub MA, Feingold E, Beaty TH, Murray JC, Marazita ML, et al. Identifying genetic sources of phenotypic heterogeneity in orofacial clefts by targeted sequencing. Birth Defects Res. 2017;109:1030–8.
Article PubMed PubMed Central Google Scholar
Curtis SW, Chang D, Lee MK, Shaffer JR, Indencleef K, Epstein MP, et al. The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip. HGG Adv. 2021;2:100025.
PubMed PubMed Central Google Scholar
Yin B, Shi JY, Lin YS, Shi B, Jia ZL. SNPs at TP63 gene was specifically associated with right-side cleft lip in Han Chinese population. Oral Dis. 2021;27:559–66.
Zheng W, Sha QQ, Hu H, Meng F, Zhou Q, Chen X, et al. Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest. J Med Genet. 2022;59:850–7.
Xing R, Zhou Y, Yu J, Yu Y, Nie Y, Luo W, et al. Whole-genome sequencing reveals novel tandem-duplication hotspots and a prognostic mutational signature in gastric cancer. Nat Commun. 2019;10:2037.
Article PubMed PubMed Central Google Scholar
Vogel KU, Bell LS, Galloway A, Ahlfors H, Turner M. The RNA-binding proteins Zfp36l1 and Zfp36l2 enforce the Thymic β-selection checkpoint by limiting DNA damage response signaling and cell cycle progression. J Immunol. 2016;197:2673–85.
Cook ME, Bradstreet TR, Webber AM, Kim J, Santeford A, Harris KM, et al. The ZFP36 family of RNA binding proteins regulates homeostatic and autoreactive T-cell responses. Sci Immunol. 2022;7:eabo0981.
Article PubMed PubMed Central Google Scholar
Yonemori K, Seki N, Kurahara H, Osako Y, Idichi T, Arai T, et al. ZFP36L2 promotes cancer cell aggressiveness and is regulated by antitumor microRNA-375 in pancreatic ductal adenocarcinoma. Cancer Sci. 2017;108:124–35.
Article PubMed PubMed Central Google Scholar
Priestley P, Baber J, Lolkema MP, Steeghs N, de Bruijn E, Shale C, et al. Pan-cancer whole-genome analyses of metastatic solid tumours. Nature. 2019;575:210–6.
Article PubMed PubMed Central Google Scholar
Li MJ, Shi JY, Zhu QS, Shi B, Jia ZL. Targeted re-sequencing of the 2p21 Locus identifies non-syndromic cleft lip only novel susceptibility gene ZFP36L2. Front Genet. 2022;13:802229.
Article PubMed PubMed Central Google Scholar
Thisse C, Thisse B. High-resolution in situ hybridization to whole-mount zebrafish embryos. Nat Protoc. 2008;3:59–69.
Sun H, Li D, Chen S, Liu Y, Liao X, Deng W, et al. Zili inhibits transforming growth factor-beta signaling by interacting with Smad4. J Biol Chem. 2010;285:4243–50.
Beaty TH, Taub MA, Scott AF, Murray JC, Marazita ML, Schwender H, et al. Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study. Hum Genet. 2013;132:771–81.
Article PubMed PubMed Central Google Scholar
Moreno Uribe LM, Fomina T, Munger RG, Romitti PA, Jenkins MM, Gjessing HK, et al. A population-based study of effects of genetic loci on orofacial clefts. J Dent Res. 2017;96:1322–9.
Article PubMed PubMed Central Google Scholar
Pan Y, Han Y, Zhang H, Zhou L, Li D, Cai Q, et al. Association and cumulative effects of GWAS-identified genetic variants for nonsyndromic orofacial clefts in a Chinese population. Environ Mol Mutagen. 2013;54:261–7.
Deplancke B, Alpern D, Gardeux V. The genetics of transcription factor DNA binding variation. Cell. 2016;166:538–54.
Shen X, Song S, Li C, Zhang J. Synonymous mutations in representative yeast genes are mostly strongly non-neutral. Nature. 2022;606:725–31.
Article PubMed PubMed Central Google Scholar
Einarsson H, Salvatore M, Vaagensø C, Alcaraz N, Bornholdt J, Rennie S, et al. Promoter sequence and architecture determine expression variability and confer robustness to genetic variants. Elife. 2022;11:e80943.
Article PubMed PubMed Central Google Scholar
Rochard L, Monica SD, Ling IT, Kong Y, Roberson S, Harland R, et al. Roles of Wnt pathway genes wls, wnt9a, wnt5b, frzb and gpc4 in regulating convergent-extension during zebrafish palate morphogenesis. Development 2016;143:2541–7.
PubMed PubMed Central Google Scholar
Yu Y, Alvarado R, Petty LE, Bohlender RJ, Shaw DM, Below JE, et al. Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate. Hum Mol Genet. 2022;31:2348–57.
留言 (0)