Dentin defects caused by a Dspp -1 frameshift mutation are associated with the activation of autophagy
Liang, Tian, Smith, Charles E, Hu, Yuanyuan, Zhang, Hong, Zhang, Chuhua, Xu, Qian, Lu, Yongbo, Qi, Ling, Hu, Jan C-C, Simmer, James P
Published in Scientific reports (19.04.2023)
Published in Scientific reports (19.04.2023)
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Journal Article
Hypomaturation Enamel Defects in Klk4 Knockout/LacZ Knockin Mice
Simmer, James P., Hu, Yuanyuan, Lertlam, Rangsiyakorn, Yamakoshi, Yasuo, Hu, Jan C.-C.
Published in The Journal of biological chemistry (10.07.2009)
Published in The Journal of biological chemistry (10.07.2009)
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Journal Article
FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome
Wang, Shih‐Kai, Zhang, Hong, Wang, Yin‐Lin, Lin, Hung‐Ying, Seymen, Figen, Koruyucu, Mine, Wright, J. Timothy, Kim, Jung‐Wook, Simmer, James P., Hu, Jan C.‐C.
Published in International endodontic journal (01.08.2023)
Published in International endodontic journal (01.08.2023)
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Journal Article
AMELX Mutations and Genotype–Phenotype Correlation in X-Linked Amelogenesis Imperfecta
Wang, Shih-Kai, Zhang, Hong, Lin, Hua-Chieh, Wang, Yin-Lin, Lin, Shu-Chun, Seymen, Figen, Koruyucu, Mine, Simmer, James P, Hu, Jan C.-C
Published in International journal of molecular sciences (01.06.2024)
Published in International journal of molecular sciences (01.06.2024)
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Journal Article
Functions of KLK4 and MMP-20 in dental enamel formation
Lu, Yuhe, Papagerakis, Petros, Yamakoshi, Yasuo, Hu, Jan C.-C., Bartlett, John D., Simmer, James P.
Published in Biological chemistry (01.06.2008)
Published in Biological chemistry (01.06.2008)
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Journal Article
The dynamics of TGF-β in dental pulp, odontoblasts and dentin
Niwa, Takahiko, Yamakoshi, Yasuo, Yamazaki, Hajime, Karakida, Takeo, Chiba, Risako, Hu, Jan C-C, Nagano, Takatoshi, Yamamoto, Ryuji, Simmer, James P, Margolis, Henry C, Gomi, Kazuhiro
Published in Scientific reports (13.03.2018)
Published in Scientific reports (13.03.2018)
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Journal Article
Mutations in RELT cause autosomal recessive amelogenesis imperfecta
Kim, Jung‐Wook, Zhang, Hong, Seymen, Figen, Koruyucu, Mine, Hu, Yuanyuan, Kang, Jenny, Kim, Youn J., Ikeda, Atsushi, Kasimoglu, Yelda, Bayram, Merve, Zhang, Chuhua, Kawasaki, Kazuhiko, Bartlett, John D., Saunders, Thomas L., Simmer, James P., Hu, Jan C‐C.
Published in Clinical genetics (01.03.2019)
Published in Clinical genetics (01.03.2019)
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Journal Article
Phenotypic variability in LAMA3‐associated amelogenesis imperfecta
Wang, Shih‐Kai, Zhang, Hong, Wang, Yin‐Lin, Seymen, Figen, Koruyucu, Mine, Simmer, James P., Hu, Jan C.‐C.
Published in Oral diseases (01.11.2023)
Published in Oral diseases (01.11.2023)
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Journal Article
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta
Parry, David A., Smith, Claire E.L., El-Sayed, Walid, Poulter, James A., Shore, Roger C., Logan, Clare V., Mogi, Chihiro, Sato, Koichi, Okajima, Fumikazu, Harada, Akihiro, Zhang, Hong, Koruyucu, Mine, Seymen, Figen, Hu, Jan C.-C., Simmer, James P., Ahmed, Mushtaq, Jafri, Hussain, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Journal Article
Novel homozygous KREMEN1 mutation causes ectodermal dysplasia
Lee, Yejin, Zhang, Hong, Seymen, Figen, Koruyucu, Mine, Kasimoglu, Yelda, Lee, Zang Hee, Hu, Jan C.‐C., Simmer, James P., Kim, Jung‐Wook
Published in Oral diseases (01.04.2022)
Published in Oral diseases (01.04.2022)
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Journal Article
FAM20A mutations can cause enamel-renal syndrome (ERS)
Wang, Shih-Kai, Aref, Parissa, Hu, Yuanyuan, Milkovich, Rachel N, Simmer, James P, El-Khateeb, Mohammad, Daggag, Hinda, Baqain, Zaid H, Hu, Jan C-C
Published in PLoS genetics (01.02.2013)
Published in PLoS genetics (01.02.2013)
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Journal Article
PAX9 mutations and genetic synergism in familial tooth agenesis
Chu, Kuan‐Yu, Wang, Yin‐Lin, Chen, Jung‐Tsu, Lin, Chia‐Hui, Yao, Chung‐Chen Jane, Chen, Yi‐Jane, Chen, Huan‐Wen, Simmer, James P., Hu, Jan C.‐C., Wang, Shih‐Kai
Published in Annals of the New York Academy of Sciences (01.06.2023)
Published in Annals of the New York Academy of Sciences (01.06.2023)
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Journal Article
Enamelin is critical for ameloblast integrity and enamel ultrastructure formation
Hu, Jan C-C, Hu, Yuanyuan, Lu, Yuhe, Smith, Charles E, Lertlam, Rangsiyakorn, Wright, John Timothy, Suggs, Cynthia, McKee, Marc D, Beniash, Elia, Kabir, M Enamul, Simmer, James P
Published in PloS one (06.03.2014)
Published in PloS one (06.03.2014)
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Journal Article
Mouse Dspp frameshift model of human dentinogenesis imperfecta
Liang, Tian, Hu, Yuanyuan, Zhang, Hong, Xu, Qian, Smith, Charles E, Zhang, Chuhua, Kim, Jung-Wook, Wang, Shih-Kai, Saunders, Thomas L, Lu, Yongbo, Hu, Jan C-C, Simmer, James P
Published in Scientific reports (19.10.2021)
Published in Scientific reports (19.10.2021)
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Journal Article
Enamel Defects and Ameloblast-specific Expression in Enam Knock-out/lacZ Knock-in Mice
Hu, Jan C.-C., Hu, Yuanyuan, Smith, Charles E., McKee, Marc D., Wright, J. Timothy, Yamakoshi, Yasuo, Papagerakis, Petros, Hunter, Graeme K., Feng, Jerry Q., Yamakoshi, Fumiko, Simmer, James P.
Published in The Journal of biological chemistry (18.04.2008)
Published in The Journal of biological chemistry (18.04.2008)
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Journal Article
Enamel defects in Acp4R110C/R110C mice and human ACP4 mutations
Liang, Tian, Wang, Shih-Kai, Smith, Charles, Zhang, Hong, Hu, Yuanyuan, Seymen, Figen, Koruyucu, Mine, Kasimoglu, Yelda, Kim, Jung-Wook, Zhang, Chuhua, Saunders, Thomas L., Simmer, James P., Hu, Jan C.-C.
Published in Scientific reports (01.10.2022)
Published in Scientific reports (01.10.2022)
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Journal Article
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
Wang, Shih-Kai, Choi, Murim, Richardson, Amelia S, Reid, Bryan M, Lin, Brent P, Wang, Susan J, Kim, Jung-Wook, Simmer, James P, Hu, Jan C-C
Published in Human molecular genetics (15.04.2014)
Published in Human molecular genetics (15.04.2014)
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Journal Article
Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta
Seymen, Figen, Kim, Youn Jung, Lee, Ye Ji, Kang, Jenny, Kim, Tak-Heun, Choi, Hwajung, Koruyucu, Mine, Kasimoglu, Yelda, Tuna, Elif Bahar, Gencay, Koray, Shin, Teo Jeon, Hyun, Hong-Keun, Kim, Young-Jae, Lee, Sang-Hoon, Lee, Zang Hee, Zhang, Hong, Hu, Jan C-C., Simmer, James P., Cho, Eui-Sic, Kim, Jung-Wook
Published in American journal of human genetics (03.11.2016)
Published in American journal of human genetics (03.11.2016)
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Journal Article