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Select record 21
ArticlesPeer ReviewedFull Text
Enamel Formation and Amelogenesis Imperfecta
Author / Creator:Hu, Jan C.-C. ; Chun, Yong-Hee P. ; Al Hazzazzi, Turki ; Simmer, James P.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Cells Tissues Organs, 2007-01, Vol.186 (1), p.78-85
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ENAM mutations and digenic inheritance
Author / Creator:Zhang, Hong ; Hu, Yuanyuan ; Seymen, Figen ; Koruyucu, Mine ; Kasimoglu, Yelda ; Wang, Shih‐Kai ; Wright, John Timothy ; Havel, Michael W. ; Zhang, Chuhua ; Kim, Jung‐Wook ; Simmer, James P. ; Hu, Jan C.‐C.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-10, Vol.7 (10), p.e00928-n/a
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Novel Mutations in GPR68 and SLC24A4 Cause Hypomaturation Amelogenesis Imperfecta
Author / Creator:Seymen, Figen ; Zhang, Hong ; Kasimoglu, Yelda ; Koruyucu, Mine ; Simmer, James P. ; Hu, Jan C.-C. ; Kim, Jung-Wook
Publisher:Switzerland: MDPI AG
Journal title:Journal of personalized medicine, 2021-12, Vol.12 (1), p.13
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Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds
Author / Creator:Yang, Jie ; Wang, Shih‐Kai ; Choi, Murim ; Reid, Bryan M. ; Hu, Yuanyuan ; Lee, Yuan‐Ling ; Herzog, Curtis R. ; Kim‐Berman, Hera ; Lee, Moses ; Benke, Paul J. ; Kent Lloyd, K. C. ; Simmer, James P. ; Hu, Jan C.‐C.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2015-01, Vol.3 (1), p.40-58
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Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis
Author / Creator:Chu, Kuan-Yu ; Wang, Yin-Lin ; Chou, Yu-Ren ; Chen, Jung-Tsu ; Wang, Yi-Ping ; Simmer, James P. ; Hu, Jan C.-C. ; Wang, Shih-Kai
Publisher:Basel: MDPI AG
Journal title:Journal of personalized medicine, 2021-11, Vol.11 (11), p.1217
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Analyses of oligodontia phenotypes and genetic etiologies
Author / Creator:Zhou Mengqi ; Zhang, Hong ; Camhi, Heather ; Seymen Figen ; Koruyucu Mine ; Kasimoglu Yelda ; Jung-Wook, Kim ; Kim-Berman, Hera ; Yuson Ninna M R ; Benke, Paul J ; Wu, Yiqun ; Wang, Feng ; Zhu, Yaqin ; Simmer, James P ; Hu, Jan C-C
Publisher:London: Springer Nature B.V
Journal title:International journal of oral science, 2021-09, Vol.13 (1)
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Enamel ribbons, surface nodules, and octacalcium phosphate in C57BL/6 Amelx−/− mice and Amelx+/− lyonization
Author / Creator:Hu, Yuanyuan ; Smith, Charles E. ; Cai, Zhonghou ; Donnelly, Lorenza A.‐J. ; Yang, Jie ; Hu, Jan C.‐C. ; Simmer, James P.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2016-11, Vol.4 (6), p.641-661
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A Novel De Novo SP6 Mutation Causes Severe Hypoplastic Amelogenesis Imperfecta
Author / Creator:Kim, Youn Jung ; Lee, Yejin ; Zhang, Hong ; Song, Ji-Soo ; Hu, Jan C.-C. ; Simmer, James P. ; Kim, Jung-Wook
Publisher:Basel: MDPI AG
Journal title:Genes, 2021-02, Vol.12 (3), p.346
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Amelogenesis Imperfecta in Two Families with Defined AMELX Deletions in ARHGAP6
Author / Creator:Hu, Jan C.-C. ; Chan, Hui-Chen ; Simmer, Stephen G. ; Seymen, Figen ; Richardson, Amelia S. ; Hu, Yuanyuan ; Milkovich, Rachel N. ; Estrella, Ninna M. R. P. ; Yildirim, Mine ; Bayram, Merve ; Chen, Chiung-Fen ; Simmer, James P.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-12, Vol.7 (12), p.e52052
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MMP20-generated amelogenin cleavage products prevent formation of fan-shaped enamel malformations
Author / Creator:Bartlett, John D. ; Smith, Charles E. ; Hu, Yuanyuan ; Ikeda, Atsushi ; Strauss, Mike ; Liang, Tian ; Hsu, Ya-Hsiang ; Trout, Amanda H. ; McComb, David W. ; Freeman, Rebecca C. ; Simmer, James P. ; Hu, Jan C.-C.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-05, Vol.11 (1), p.10570-18, Article 10570
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Translational Attenuation by an Intron Retention in the 5′ UTR of ENAM Causes Amelogenesis Imperfecta
Author / Creator:Kim, Youn Jung ; Lee, Yejin ; Zhang, Hong ; Wright, John Timothy ; Simmer, James P. ; Hu, Jan C.-C. ; Kim, Jung-Wook
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2021-04, Vol.9 (5), p.456
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Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta
Author / Creator:Kim, Youn Jung ; Zhang, Hong ; Lee, Yejin ; Seymen, Figen ; Koruyucu, Mine ; Kasimoglu, Yelda ; Simmer, James P. ; Hu, Jan C.-C. ; Kim, Jung-Wook
Publisher:Switzerland: MDPI AG
Journal title:Journal of personalized medicine, 2023-02, Vol.13 (2), p.326
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Select record 33
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Critical roles for WDR72 in calcium transport and matrix protein removal during enamel maturation
Author / Creator:Wang, Shih‐Kai ; Hu, Yuanyuan ; Yang, Jie ; Smith, Charles E. ; Nunez, Stephanie M. ; Richardson, Amelia S ; Pal, Soumya ; Samann, Andrew C. ; Hu, Jan C.‐C. ; Simmer, James P.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2015-07, Vol.3 (4), p.302-319
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Dental malformations associated with biallelic MMP20 mutations
Author / Creator:Wang, Shih‐Kai ; Zhang, Hong ; Chavez, Michael B. ; Hu, Yuanyuan ; Seymen, Figen ; Koruyucu, Mine ; Kasimoglu, Yelda ; Colvin, Connor D. ; Kolli, Tamara N. ; Tan, Michelle H. ; Wang, Yin‐Lin ; Lu, Pei‐Ying ; Kim, Jung‐Wook ; Foster, Brian L. ; Bartlett, John D. ; Simmer, James P. ; Hu, Jan C.‐C.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-08, Vol.8 (8), p.e1307-n/a
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Select record 35
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Novel KLK4 Mutations Cause Hypomaturation Amelogenesis Imperfecta
Author / Creator:Lee, Yejin ; Zhang, Hong ; Seymen, Figen ; Kim, Youn Jung ; Kasimoglu, Yelda ; Koruyucu, Mine ; Simmer, James P. ; Hu, Jan C.-C. ; Kim, Jung-Wook
Publisher:Switzerland: MDPI AG
Journal title:Journal of personalized medicine, 2022-01, Vol.12 (2), p.150
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Why Does Enamel in Klk4-Null Mice Break above the Dentino-Enamel Junction?
Author / Creator:Simmer, James P. ; Hu, Yuanyuan ; Richardson, Amelia S. ; Bartlett, John D. ; Hu, Jan C.-C.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Cells, tissues, organs, 2011-01, Vol.194 (2-4), p.211-215
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Fam83h null mice support a neomorphic mechanism for human ADHCAI
Author / Creator:Wang, Shih‐Kai ; Hu, Yuanyuan ; Yang, Jie ; Smith, Charles E. ; Richardson, Amelia S ; Yamakoshi, Yasuo ; Lee, Yuan‐Ling ; Seymen, Figen ; Koruyucu, Mine ; Gencay, Koray ; Lee, Moses ; Choi, Murim ; Kim, Jung‐Wook ; Hu, Jan C‐C. ; Simmer, James P.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2016-01, Vol.4 (1), p.46-67
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Select record 38
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The dentin phosphoprotein repeat region and inherited defects of dentin
Author / Creator:Yang, Jie ; Kawasaki, Kazuhiko ; Lee, Moses ; Reid, Bryan M. ; Nunez, Stephanie M. ; Choi, Murim ; Seymen, Figen ; Koruyucu, Mine ; Kasimoglu, Yelda ; Estrella‐Yuson, Ninna ; Lin, Brent P. J. ; Simmer, James P. ; Hu, Jan C.‐C.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2016-01, Vol.4 (1), p.28-38
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Select record 39
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Ultrastructure of early amelogenesis in wild‐type, Amelx‐/‐, and Enam‐/‐ mice: enamel ribbon initiation on dentin mineral and ribbon orientation by ameloblasts
Author / Creator:Smith, Charles E. ; Hu, Yuanyuan ; Hu, Jan C.‐C. ; Simmer, James P.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2016-11, Vol.4 (6), p.662-683
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Select record 40
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Novel PAX9 and COL1A2 Missense Mutations Causing Tooth Agenesis and OI/DGI without Skeletal Abnormalities
Author / Creator:Wang, Shih-Kai ; Chan, Hui-Chen ; Makovey, Igor ; Simmer, James P. ; Hu, Jan C-C.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-12, Vol.7 (12), p.e51533
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Showing 21 to 40 of 62 results

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Enamel Formation and Amelogenesis Imperfecta

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ENAM mutations and digenic inheritance

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Novel Mutations in GPR68 and SLC24A4 Cause Hypomaturation Amelogenesis Imperfecta

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Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds

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Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis

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Analyses of oligodontia phenotypes and genetic etiologies

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Enamel ribbons, surface nodules, and octacalcium phosphate in C57BL/6 Amelx−/− mice and Amelx+/− lyonization

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A Novel De Novo SP6 Mutation Causes Severe Hypoplastic Amelogenesis Imperfecta

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Amelogenesis Imperfecta in Two Families with Defined AMELX Deletions in ARHGAP6

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MMP20-generated amelogenin cleavage products prevent formation of fan-shaped enamel malformations

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Translational Attenuation by an Intron Retention in the 5′ UTR of ENAM Causes Amelogenesis Imperfecta

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Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta

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Critical roles for WDR72 in calcium transport and matrix protein removal during enamel maturation

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Dental malformations associated with biallelic MMP20 mutations

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Novel KLK4 Mutations Cause Hypomaturation Amelogenesis Imperfecta

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Why Does Enamel in Klk4-Null Mice Break above the Dentino-Enamel Junction?

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Fam83h null mice support a neomorphic mechanism for human ADHCAI

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The dentin phosphoprotein repeat region and inherited defects of dentin

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Ultrastructure of early amelogenesis in wild‐type, Amelx‐/‐, and Enam‐/‐ mice: enamel ribbon initiation on dentin mineral and ribbon orientation by ameloblasts

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Novel PAX9 and COL1A2 Missense Mutations Causing Tooth Agenesis and OI/DGI without Skeletal Abnormalities

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