Literature DB >> 25442250

Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.

Curtis R Herzog1, Bryan M Reid1, Figen Seymen2, Mine Koruyucu2, Elif Bahar Tuna2, James P Simmer3, Jan C-C Hu1.   

Abstract

In this case report of autosomal recessive pigmented hypomaturation amelogenesis imperfecta (AI), we identify a novel homozygous missense mutation (g.165151 T>G; c.1317 T>G; p.Leu436 Arg) in SLC24A4, a gene encoding a potassium-dependent sodium-calcium exchanger that is critical for hardening dental enamel during tooth development.
Copyright © 2015 Elsevier Inc. All rights reserved.

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Year:  2014        PMID： 25442250      PMCID： PMC4291293          DOI： 10.1016/j.oooo.2014.09.003

Source DB:  PubMed          Journal:  Oral Surg Oral Med Oral Pathol Oral Radiol


  41 in total

1.  LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta.

Authors:  J W Kim; F Seymen; K E Lee; J Ko; M Yildirim; E B Tuna; K Gencay; T J Shin; H K Kyun; J P Simmer; J C-C Hu
Journal:  J Dent Res       Date:  2013-08-19       Impact factor: 6.116

2.  FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.

Authors:  Chandree L Beaulieu; Jacek Majewski; Jeremy Schwartzentruber; Mark E Samuels; Bridget A Fernandez; Francois P Bernier; Michael Brudno; Bartha Knoppers; Janet Marcadier; David Dyment; Shelin Adam; Dennis E Bulman; Steve J M Jones; Denise Avard; Minh Thu Nguyen; Francois Rousseau; Christian Marshall; Richard F Wintle; Yaoqing Shen; Stephen W Scherer; Jan M Friedman; Jacques L Michaud; Kym M Boycott
Journal:  Am J Hum Genet       Date:  2014-06-05       Impact factor: 11.025

3.  Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta.

Authors:  M H Rajpar; K Harley; C Laing; R M Davies; M J Dixon
Journal:  Hum Mol Genet       Date:  2001-08-01       Impact factor: 6.150

4.  STIM1 and SLC24A4 Are Critical for Enamel Maturation.

Authors:  S Wang; M Choi; A S Richardson; B M Reid; F Seymen; M Yildirim; E Tuna; K Gençay; J P Simmer; J C Hu
Journal:  J Dent Res       Date:  2014-03-12       Impact factor: 6.116

5.  Exonal deletion of SLC24A4 causes hypomaturation amelogenesis imperfecta.

Authors:  F Seymen; K-E Lee; C G Tran Le; M Yildirim; K Gencay; Z H Lee; J-W Kim
Journal:  J Dent Res       Date:  2014-02-14       Impact factor: 6.116

6.  ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.

Authors:  Shih-Kai Wang; Murim Choi; Amelia S Richardson; Bryan M Reid; Brent P Lin; Susan J Wang; Jung-Wook Kim; James P Simmer; Jan C-C Hu
Journal:  Hum Mol Genet       Date:  2013-12-04       Impact factor: 6.150

7.  A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.

Authors:  James A Poulter; Steven J Brookes; Roger C Shore; Claire E L Smith; Layal Abi Farraj; Jennifer Kirkham; Chris F Inglehearn; Alan J Mighell
Journal:  Hum Mol Genet       Date:  2013-12-06       Impact factor: 6.150

8.  Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.

Authors:  James A Poulter; Gina Murillo; Steven J Brookes; Claire E L Smith; David A Parry; Sandra Silva; Jennifer Kirkham; Chris F Inglehearn; Alan J Mighell
Journal:  Hum Mol Genet       Date:  2014-05-23       Impact factor: 6.150

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

Authors:  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
Journal:  PLoS Genet       Date:  2013-02-28       Impact factor: 5.917

10.  Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.

Authors:  James A Poulter; Walid El-Sayed; Roger C Shore; Jennifer Kirkham; Chris F Inglehearn; Alan J Mighell
Journal:  Eur J Hum Genet       Date:  2013-05-01       Impact factor: 4.246
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  15 in total

Review 1.  Ca2+ transport and signalling in enamel cells.

Authors:  Meerim K Nurbaeva; Miriam Eckstein; Stefan Feske; Rodrigo S Lacruz
Journal:  J Physiol       Date:  2016-10-13       Impact factor: 5.182

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

Authors:  Ali H Jalloul; Tatiana P Rogasevskaia; Robert T Szerencsei; Paul P M Schnetkamp
Journal:  J Biol Chem       Date:  2016-04-25       Impact factor: 5.157

3.  Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC).

Authors:  Alexandre R Vieira; Moses Lee; Filippo Vairo; Julio Cesar Loguercio Leite; Maria Cristina Munerato; Fernanda Visioli; Stéphanie Rodrigues D'Ávila; Shih-Kai Wang; Murim Choi; James P Simmer; Jan C-C Hu
Journal:  Oral Surg Oral Med Oral Pathol Oral Radiol       Date:  2015-05-28

Review 4.  Altered Ca2+ signaling in enamelopathies.

Authors:  Miriam Eckstein; Francisco J Aulestia; Meerim K Nurbaeva; Rodrigo S Lacruz
Journal:  Biochim Biophys Acta Mol Cell Res       Date:  2018-05-09       Impact factor: 5.011

5.  The Na+/Ca2+, K+ exchanger NCKX4 is required for efficient cone-mediated vision.

Authors:  Frans Vinberg; Tian Wang; Alicia De Maria; Haiqing Zhao; Steven Bassnett; Jeannie Chen; Vladimir J Kefalov
Journal:  Elife       Date:  2017-06-26       Impact factor: 8.140

6.  Multiple Calcium Export Exchangers and Pumps Are a Prominent Feature of Enamel Organ Cells.

Authors:  Sarah Y T Robertson; Xin Wen; Kaifeng Yin; Junjun Chen; Charles E Smith; Michael L Paine
Journal:  Front Physiol       Date:  2017-05-23       Impact factor: 4.566

Review 7.  Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

Authors:  Claire E L Smith; James A Poulter; Agne Antanaviciute; Jennifer Kirkham; Steven J Brookes; Chris F Inglehearn; Alan J Mighell
Journal:  Front Physiol       Date:  2017-06-26       Impact factor: 4.566

8.  Deletion of Slc26a1 and Slc26a7 Delays Enamel Mineralization in Mice.

Authors:  Kaifeng Yin; Jing Guo; Wenting Lin; Sarah Y T Robertson; Manoocher Soleimani; Michael L Paine
Journal:  Front Physiol       Date:  2017-05-16       Impact factor: 4.566

9.  An autosomal recessive mutation in SCL24A4 causing enamel hypoplasia in Samoyed and its relationship to breed-wide genetic diversity.

Authors:  Niels C Pedersen; Bonnie Shope; Hongwei Liu
Journal:  Canine Genet Epidemiol       Date:  2017-11-22

10.  MiR-153 Regulates Amelogenesis by Targeting Endocytotic and Endosomal/lysosomal Pathways-Novel Insight into the Origins of Enamel Pathologies.

Authors:  Kaifeng Yin; Wenting Lin; Jing Guo; Toshihiro Sugiyama; Malcolm L Snead; Joseph G Hacia; Michael L Paine
Journal:  Sci Rep       Date:  2017-03-13       Impact factor: 4.379
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