Literature DB >> 22540999

Autosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36Ilefs56.

S G Simmer, N M R P Estrella, R N Milkovich, J C C Hu.   

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Year:  2012        PMID： 22540999      PMCID： PMC3579657          DOI： 10.1111/j.1399-0004.2012.01887.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  1 in total

1.  Target gene analyses of 39 amelogenesis imperfecta kindreds.

Authors:  Hui-Chen Chan; Ninna M R P Estrella; Rachel N Milkovich; Jung-Wook Kim; James P Simmer; Jan C-C Hu
Journal:  Eur J Oral Sci       Date:  2011-12       Impact factor: 2.612
  1 in total
  10 in total

1.  Effects of Fam83h overexpression on enamel and dentine formation.

Authors:  Young-Sun Kweon; Kyung-Eun Lee; Jiyeon Ko; Jan C-C Hu; James P Simmer; Jung-Wook Kim
Journal:  Arch Oral Biol       Date:  2013-03-29       Impact factor: 2.633

2.  ENAM mutations with incomplete penetrance.

Authors:  F Seymen; K-E Lee; M Koruyucu; K Gencay; M Bayram; E B Tuna; Z H Lee; J-W Kim
Journal:  J Dent Res       Date:  2014-08-20       Impact factor: 6.116

3.  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

4.  Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.

Authors:  Curtis R Herzog; Bryan M Reid; Figen Seymen; Mine Koruyucu; Elif Bahar Tuna; James P Simmer; Jan C-C Hu
Journal:  Oral Surg Oral Med Oral Pathol Oral Radiol       Date:  2014-09-16

5.  Characterization of periodontal structures of enamelin-null mice.

Authors:  Hsun-Liang Chan; William V Giannobile; Robert M Eber; James P Simmer; Jan C Hu
Journal:  J Periodontol       Date:  2013-05-07       Impact factor: 6.993

Review 6.  Dental enamel development: proteinases and their enamel matrix substrates.

Authors:  John D Bartlett
Journal:  ISRN Dent       Date:  2013-09-16

7.  Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress.

Authors:  Steven J Brookes; Martin J Barron; Claire E L Smith; James A Poulter; Alan J Mighell; Chris F Inglehearn; Catriona J Brown; Helen Rodd; Jennifer Kirkham; Michael J Dixon
Journal:  Hum Mol Genet       Date:  2017-05-15       Impact factor: 6.150

8.  Bodyweight assessment of enamelin null mice.

Authors:  Albert H-L Chan; Rangsiyakorn Lertlam; James P Simmer; Chia-Ning Wang; Jan C C Hu
Journal:  Biomed Res Int       Date:  2012-12-26       Impact factor: 3.411

9.  Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.

Authors:  Xin Wang; Yuming Zhao; Yuan Yang; Man Qin
Journal:  PLoS One       Date:  2015-03-13       Impact factor: 3.240

10.  ENAM mutations and digenic inheritance.

Authors:  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
Journal:  Mol Genet Genomic Med       Date:  2019-09-02       Impact factor: 2.183
  10 in total

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