PMC Articles for MedGen (Select 863015) - PMC

Select item 72068161.

A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family

Sher Alam Khan, Muhammad Adnan Khan, Nazif Muhammad, Hina Bashir, Niamat Khan, Noor Muhammad, Rüstem Yilmaz, Saadullah Khan, Naveed Wasif

BMC Med Genet. 2020; 21: 97. Published online 2020 May 7. doi: 10.1186/s12881-020-01038-6

PMCID:: PMC7206816

Abstract Article PDF–1001K

Select item 65364662.

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants

Marjo K. Hytönen, Meharji Arumilli, Eva Sarkiala, Pekka Nieminen, Hannes Lohi

Hum Genet. 2019; 138(5): 525–533. Published online 2019 Mar 15. doi: 10.1007/s00439-019-01997-8

PMCID:: PMC6536466

Abstract Article PDF–3.3M

Select item 64810053.

WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis

H. Zhang, M. Koruyucu, F. Seymen, Y. Kasimoglu, J.-W. Kim, S. Tinawi, C. Zhang, M.L. Jacquemont, A.R. Vieira, J.P. Simmer, J.C.C. Hu

J Dent Res. 2019 May; 98(5): 541–548. Published online 2019 Feb 19. doi: 10.1177/0022034518824571

PMCID:: PMC6481005

Abstract Article PDF–1.0M

Select item 49332274.

A Functional Study of Mutations in K⁺-dependent Na⁺-Ca²⁺ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism

Ali H. Jalloul, Tatiana P. Rogasevskaia, Robert T. Szerencsei, Paul P. M. Schnetkamp

J Biol Chem. 2016 Jun 17; 291(25): 13113–13123. Published online 2016 Apr 25. doi: 10.1074/jbc.M116.728824

PMCID:: PMC4933227

Abstract Article PDF–3.5M

Select item 42912935.

Hypomaturation Amelogenesis Imperfecta Caused By A Novel SLC24A4 Mutation

Curtis R. Herzog, Bryan M. Reid, Figen Seymen, Mine Koruyucu, Elif Bahar Tuna, James P. Simmer, Jan C-C. Hu

Oral Surg Oral Med Oral Pathol Oral Radiol. Author manuscript; available in PMC 2016 Feb 1.

Published in final edited form as: Oral Surg Oral Med Oral Pathol Oral Radiol. 2015 Feb; 119(2): e77–e81. Published online 2014 Sep 16. doi: 10.1016/j.oooo.2014.09.003

PMCID:: PMC4291293

Abstract Article PDF–1.0M

Select item 41075426.

STIM1 and SLC24A4 Are Critical for Enamel Maturation

S. Wang, M. Choi, A.S. Richardson, B.M. Reid, F. Seymen, M. Yildirim, E. Tuna, K. Gençay, J.P. Simmer, J.C. Hu

J Dent Res. 2014 Jul; 93(7 Suppl): 94S–100S. doi: 10.1177/0022034514527971

PMCID:: PMC4107542

Abstract Article PDF–1.1M

Select item 35672747.

Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta

David A. Parry, James A. Poulter, Clare V. Logan, Steven J. Brookes, Hussain Jafri, Christopher H. Ferguson, Babra M. Anwari, Yasmin Rashid, Haiqing Zhao, Colin A. Johnson, Chris F. Inglehearn, Alan J. Mighell

Am J Hum Genet. 2013 Feb 7; 92(2): 307–312. doi: 10.1016/j.ajhg.2013.01.003

PMCID:: PMC3567274

Abstract Article PDF–594K

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