PMC Links for GEO Profiles (Select 65163775) - PMC

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Items: 5

Select item 95267331.

Enamel defects in Acp4^R110C/R110C mice and human ACP4 mutations

Tian Liang, Shih-Kai Wang, Charles Smith, Hong Zhang, Yuanyuan Hu, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Jung-Wook Kim, Chuhua Zhang, Thomas L. Saunders, James P. Simmer, Jan C.-C. Hu

Sci Rep. 2022; 12: 16477. Published online 2022 Oct 1. doi: 10.1038/s41598-022-20684-9

PMCID:: PMC9526733

Abstract Article PDF–5.3M

Select item 87217292.

Recessive Mutations in ACP4 Cause Amelogenesis Imperfecta

Y.J. Kim, Y. Lee, Y. Kasimoglu, F. Seymen, J.P. Simmer, J.C.-C. Hu, E.-S. Cho, J.-W. Kim

J Dent Res. 2022 Jan; 101(1): 37–45. Published online 2021 May 26. doi: 10.1177/00220345211015119

PMCID:: PMC8721729

Abstract Article PDF–2.9M

Select item 55115093.

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

Claire EL Smith, Laura LE Whitehouse, James A Poulter, Steven J Brookes, Peter F Day, Francesca Soldani, Jennifer Kirkham, Chris F Inglehearn, Alan J Mighell

Eur J Hum Genet. 2017 Aug; 25(8): 1015–1019. Published online 2017 May 17. doi: 10.1038/ejhg.2017.79

PMCID:: PMC5511509

Abstract Article PDF–1.2M

Select item 50979784.

Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta

Figen Seymen, Youn Jung Kim, Ye Ji Lee, Jenny Kang, Tak-Heun Kim, Hwajung Choi, Mine Koruyucu, Yelda Kasimoglu, Elif Bahar Tuna, Koray Gencay, Teo Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Sang-Hoon Lee, Zang Hee Lee, Hong Zhang, Jan C-C. Hu, James P. Simmer, Eui-Sic Cho, Jung-Wook Kim

Am J Hum Genet. 2016 Nov 3; 99(5): 1199–1205. Published online 2016 Oct 27. doi: 10.1016/j.ajhg.2016.09.018