Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities.

by Shih-Kai Wang, Hui-Chen Chan, Igor Makovey, James P Simmer, Jan C-C Hu
Published 2012-01-01

Bodyweight Assessment of Enamelin Null Mice

by Albert H.-L. Chan, Rangsiyakorn Lertlam, James P. Simmer, Chia-Ning Wang, Jan C. C. Hu
Published 2013-01-01

Odontogenesis-associated phosphoprotein truncation blocks ameloblast transition into maturation in Odaph C41*/C41* mice

by Tian Liang, Yuanyuan Hu, Kazuhiko Kawasaki, Hong Zhang, Chuhua Zhang, Thomas L. Saunders, James P. Simmer, Jan C.-C. Hu
Published 2021-01-01

A Novel de Novo sp6 Mutation Causes Severe Hypoplastic Ame-Logenesis Imperfecta

by Youn Jung Kim, Yejin Lee, Hong Zhang, Ji-Soo Song, Jan C-C. Hu, James P. Simmer, Jung-Wook Kim
Published 2021-02-01

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

by Youn Jung Kim, Yejin Lee, Hong Zhang, John Timothy Wright, James P. Simmer, Jan C.-C. Hu, Jung-Wook Kim
Published 2021-04-01

The Enamel Phenotype in Homozygous Fam83h Truncation Mice

by Shih‐Kai Wang, Yuanyuan Hu, Charles E. Smith, Jie Yang, Chunhua Zeng, Jung‐Wook Kim, Jan C‐C. Hu, James P. Simmer
Published 2019-06-01

FAM20A mutations can cause enamel-renal syndrome (ERS).

by Shih-Kai Wang, Parissa Aref, Yuanyuan Hu, Rachel N Milkovich, James P Simmer, Mohammad El-Khateeb, Hinda Daggag, Zaid H Baqain, Jan C-C Hu
Published 2013-01-01

Endocytosis and Enamel Formation

by Cong-Dat Pham, Charles E. Smith, Charles E. Smith, Yuanyuan Hu, Jan C-C. Hu, James P. Simmer, Yong-Hee P. Chun, Yong-Hee P. Chun
Published 2017-07-01

Enamelin is critical for ameloblast integrity and enamel ultrastructure formation.

by Jan C-C Hu, Yuanyuan Hu, Yuhe Lu, Charles E Smith, Rangsiyakorn Lertlam, John Timothy Wright, Cynthia Suggs, Marc D McKee, Elia Beniash, M Enamul Kabir, James P Simmer
Published 2014-01-01

ENAM mutations and digenic inheritance

by Hong Zhang, Yuanyuan Hu, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Shih‐Kai Wang, John Timothy Wright, Michael W. Havel, Chuhua Zhang, Jung‐Wook Kim, James P. Simmer, Jan C.‐C. Hu
Published 2019-10-01

AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout‐NLS‐lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue‐specificity

by Tian Liang, Yuanyuan Hu, Charles E. Smith, Amelia S Richardson, Hong Zhang, Jie Yang, Brent Lin, Shih‐Kai Wang, Jung‐Wook Kim, Yong‐Hee Chun, James P. Simmer, Jan C.‐C. Hu
Published 2019-09-01

Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta

by Jung-Wook Kim, Jung-Wook Kim, Youn Jung Kim, Jenny Kang, Figen Seymen, Mine Koruyucu, Koray Gencay, Teo Jeon Shin, Hong-Keun Hyun, Zang Hee Lee, Jan C.-C. Hu, James P. Simmer
Published 2017-04-01

Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6.

by Jan C-C Hu, Hui-Chen Chan, Stephen G Simmer, Figen Seymen, Amelia S Richardson, Yuanyuan Hu, Rachel N Milkovich, Ninna M R P Estrella, Mine Yildirim, Merve Bayram, Chiung-Fen Chen, James P Simmer
Published 2012-01-01

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

by John D. Bartlett, Charles E. Smith, Yuanyuan Hu, Atsushi Ikeda, Mike Strauss, Tian Liang, Ya-Hsiang Hsu, Amanda H. Trout, David W. McComb, Rebecca C. Freeman, James P. Simmer, Jan C.-C. Hu
Published 2021-05-01

Analyses of oligodontia phenotypes and genetic etiologies

by Mengqi Zhou, Hong Zhang, Heather Camhi, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Jung-Wook Kim, Hera Kim-Berman, Ninna M. R. Yuson, Paul J. Benke, Yiqun Wu, Feng Wang, Yaqin Zhu, James P. Simmer, Jan C-C. Hu
Published 2021-09-01

Dental malformations associated with biallelic MMP20 mutations

by Shih‐Kai Wang, Hong Zhang, Michael B. Chavez, Yuanyuan Hu, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Connor D. Colvin, Tamara N. Kolli, Michelle H. Tan, Yin‐Lin Wang, Pei‐Ying Lu, Jung‐Wook Kim, Brian L. Foster, John D. Bartlett, James P. Simmer, Jan C.‐C. Hu
Published 2020-08-01