Literature DB >> 19220331

Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta.

P S Hart, S Becerik, D Cogulu, G Emingil, D Ozdemir-Ozenen, S T Han, P P Sulima, E Firatli, T C Hart.   

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Year:  2009        PMID： 19220331      PMCID： PMC4264522          DOI： 10.1111/j.1399-0004.2008.01112.x

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


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  11 in total

1.  The enamel proteins in human amelogenesis imperfecta.

Authors:  J T Wright; K I Hall; M Yamauche
Journal:  Arch Oral Biol       Date:  1997-02       Impact factor: 2.633

2.  Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature.

Authors:  P S Hart; M D Michalec; W K Seow; T C Hart; J T Wright
Journal:  Arch Oral Biol       Date:  2003-08       Impact factor: 2.633

3.  Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta.

Authors:  P S Hart; T C Hart; M D Michalec; O H Ryu; D Simmons; S Hong; J T Wright
Journal:  J Med Genet       Date:  2004-07       Impact factor: 6.318

4.  MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta.

Authors:  J-W Kim; J P Simmer; T C Hart; P S Hart; M D Ramaswami; J D Bartlett; J C-C Hu
Journal:  J Med Genet       Date:  2005-03       Impact factor: 6.318

5.  MMP20 active-site mutation in hypomaturation amelogenesis imperfecta.

Authors:  D Ozdemir; P S Hart; O H Ryu; S J Choi; M Ozdemir-Karatas; E Firatli; N Piesco; T C Hart
Journal:  J Dent Res       Date:  2005-11       Impact factor: 6.116

6.  Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification.

Authors:  Sook-Kyung Lee; Jan C-C Hu; John D Bartlett; Kyung-Eun Lee; Brent P-J Lin; James P Simmer; Jung-Wook Kim
Journal:  Hum Mutat       Date:  2008-08       Impact factor: 4.878

Review 7.  Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification.

Authors:  C J Witkop
Journal:  J Oral Pathol       Date:  1988-11

8.  Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia.

Authors:  Jacqueline T Tan; Friederike Kremer; Susanna Freddi; Katrina M Bell; Naomi L Baker; Shireen R Lamandé; John F Bateman
Journal:  Am J Hum Genet       Date:  2008-02-21       Impact factor: 11.025

Review 9.  Relationship of phenotype and genotype in X-linked amelogenesis imperfecta.

Authors:  J T Wright; P S Hart; M J Aldred; K Seow; P J M Crawford; S P Hong; C W Gibson; T C Hart
Journal:  Connect Tissue Res       Date:  2003       Impact factor: 3.417

10.  FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.

Authors:  Jung-Wook Kim; Sook-Kyung Lee; Zang Hee Lee; Joo-Cheol Park; Kyung-Eun Lee; Myoung-Hwa Lee; Jong-Tae Park; Byoung-Moo Seo; Jan C-C Hu; James P Simmer
Journal:  Am J Hum Genet       Date:  2008-02       Impact factor: 11.025
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  22 in total

1.  FAM83H mutations cause ADHCAI and alter intracellular protein localization.

Authors:  S-K Lee; K-E Lee; T-S Jeong; Y-H Hwang; S Kim; J C-C Hu; J P Simmer; J-W Kim
Journal:  J Dent Res       Date:  2010-11-30       Impact factor: 6.116

2.  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

3.  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

4.  MMP20 hemopexin domain mutation in amelogenesis imperfecta.

Authors:  S-K Lee; F Seymen; H-Y Kang; K-E Lee; K Gencay; B Tuna; J-W Kim
Journal:  J Dent Res       Date:  2010-01       Impact factor: 6.116

5.  Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta.

Authors:  Sema Becerik; Dilsah Cogulu; Gülnur Emingil; Ted Han; P Suzanne Hart; Thomas C Hart
Journal:  Am J Med Genet A       Date:  2009-07       Impact factor: 2.802

6.  Phenotypic variation in FAM83H-associated amelogenesis imperfecta.

Authors:  J T Wright; S Frazier-Bowers; D Simmons; K Alexander; P Crawford; S T Han; P S Hart; T C Hart
Journal:  J Dent Res       Date:  2009-04       Impact factor: 6.116

7.  Fam83h is associated with intracellular vesicles and ADHCAI.

Authors:  Y Ding; M R P Estrella; Y Y Hu; H L Chan; H D Zhang; J-W Kim; J P Simmer; J C-C Hu
Journal:  J Dent Res       Date:  2009-11       Impact factor: 6.116

8.  Oral rehabilitation of a patient with amelogenesis imperfecta.

Authors:  Dilsah Cogulu; Sema Becerik; Gülnur Emingil; P Suzanne Hart; Thomas C Hart
Journal:  Pediatr Dent       Date:  2009 Nov-Dec       Impact factor: 1.874

9.  Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.

Authors:  W El-Sayed; R C Shore; D A Parry; C F Inglehearn; A J Mighell
Journal:  Cells Tissues Organs       Date:  2009-10-22       Impact factor: 2.481

10.  FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta.

Authors:  S K Wang; H Zhang; C Y Hu; J F Liu; S Chadha; J W Kim; J P Simmer; J C C Hu
Journal:  J Dent Res       Date:  2020-10-09       Impact factor: 6.116
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