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Novel homozygous KREMEN1 mutation causes ectodermal dysplasia
dc.contributor.authorLee, Yejin
dc.contributor.authorZhang, Hong
dc.contributor.authorSeymen, Figen
dc.contributor.authorKoruyucu, Mine
dc.contributor.authorKasimoglu, Yelda
dc.contributor.authorLee, Zang Hee
dc.contributor.authorHu, Jan C.-C.
dc.contributor.authorSimmer, James P.
dc.contributor.authorKim, Jung-Wook
dc.date.accessioned2022-04-08T18:05:57Z
dc.date.available2023-05-08 14:05:55en
dc.date.available2022-04-08T18:05:57Z
dc.date.issued2022-04
dc.identifier.citationLee, Yejin; Zhang, Hong; Seymen, Figen; Koruyucu, Mine; Kasimoglu, Yelda; Lee, Zang Hee; Hu, Jan C.-C. ; Simmer, James P.; Kim, Jung-Wook (2022). "Novel homozygous KREMEN1 mutation causes ectodermal dysplasia." Oral Diseases (3): 843-845.
dc.identifier.issn1354-523X
dc.identifier.issn1601-0825
dc.identifier.urihttps://hdl.handle.net/2027.42/172055
dc.publisherWiley Periodicals, Inc.
dc.subject.otheroligodontia
dc.subject.othersyndromic
dc.subject.otherectodermal dysplasia
dc.subject.otherKREMEN1
dc.subject.othermutation
dc.titleNovel homozygous KREMEN1 mutation causes ectodermal dysplasia
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelDentistry
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/172055/1/odi13921-sup-0001-Supinfo.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/172055/2/odi13921.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/172055/3/odi13921_am.pdf
dc.identifier.doi10.1111/odi.13921
dc.identifier.sourceOral Diseases
dc.identifier.citedreferenceYang, L., Liang, J., Yue, H., & Bian, Z. ( 2020 ). Two novel mutations in MSX1 causing oligodontia. PLoS ONE, 15 ( 1 ), e0227287. https://doi.org/10.1371/journal.pone.0227287
dc.identifier.citedreferenceYu, M., Wong, S. W., Han, D., & Cai, T. ( 2018 ). Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis. Oral Diseases, 25 ( 3 ), 646 – 651. https://doi.org/10.1111/odi.12931
dc.identifier.citedreferenceCselenyi, C. S., & Lee, E. ( 2008 ). Context‐dependent activation or inhibition of Wnt‐beta‐catenin signaling by Kremen. Science Signalling, 1 ( 8 ), pe10. https://doi.org/10.1126/stke.18pe10
dc.identifier.citedreferenceDinckan, N., Du, R., Petty, L. E., Coban‐Akdemir, Z., Jhangiani, S. N., Paine, I., Baugh, E. H., Erdem, A. P., Kayserili, H., Doddapaneni, H., Hu, J., Muzny, D. M., Boerwinkle, E., Gibbs, R. A., Lupski, J. R., Uyguner, Z. O., Below, J. E., & Letra, A. ( 2018 ). Whole‐exome sequencing identifies novel variants for tooth agenesis. Journal of Dental Research, 97 ( 1 ), 49 – 59. https://doi.org/10.1177/0022034517724149
dc.identifier.citedreferenceIntarak, N., Theerapanon, T., Srijunbarl, A., Suphapeetiporn, K., Porntaveetus, T., & Shotelersuk, V. ( 2018 ). Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia. British Journal of Dermatology, 179 ( 3 ), 758 – 760. https://doi.org/10.1111/bjd.16541
dc.identifier.citedreferenceIssa, Y. A., Kamal, L., Rayyan, A. A., Dweik, D., Pierce, S., Lee, M. K., King, M.‐C., Walsh, T., & Kanaan, M. ( 2016 ). Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families. European Journal of Human Genetics, 24 ( 10 ), 1430 – 1435. https://doi.org/10.1038/ejhg.2016.29
dc.identifier.citedreferenceSong, J. S., Bae, M., & Kim, J. W. ( 2020 ). Novel TSPEAR mutations in non‐syndromic oligodontia. Oral Diseases, 26 ( 4 ), 847 – 849. https://doi.org/10.1111/odi.13316
dc.identifier.citedreferenceThesleff, I. ( 2003 ). Epithelial‐mesenchymal signalling regulating tooth morphogenesis. Journal of Cell Science, 116 ( Pt 9 ), 1647 – 1648. https://doi.org/10.1242/jcs.00410
dc.identifier.citedreferenceWright, J. T., Fete, M., Schneider, H., Zinser, M., Koster, M. I., Clarke, A. J., Hadj‐Rabia, S., Tadini, G., Pagnan, N., Visinoni, A. F., Bergendal, B., Abbott, B., Fete, T., Stanford, C., Butcher, C., D’Souza, R. N., Sybert, V. P., & Morasso, M. I. ( 2019 ). Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway. American Journal of Medical Genetics Part A, 179 ( 3 ), 442 – 447. https://doi.org/10.1002/ajmg.a.61045
dc.working.doiNOen
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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