A nomenclature for X-linked amelogenesis imperfecta

Archives of Oral Biology
P S HartJ T Wright

Abstract

Mutations of the X-chromosome amelogenin gene (AMELX) are associated with amelogenesis imperfecta (AI) phenotypes (OMIM no. 301200). Currently, 12 different AMELX mutations have been identified in individuals with abnormal enamel characteristic of AI. A notable feature of AI is the variable clinical phenotype, spurring interest in genotype-phenotype correlations. It is important that researchers and clinicians have an informative and reliable means of reporting and communicating these molecular defects. Therefore, the purpose here was to present a systematic nosology for reporting the genomic, cDNA and protein consequences of AMELX mutations associated with AI. The proposed nomenclature adheres to conventions proposed for other conditions and can be adopted for the autosomal forms of AI as the molecular basis of these conditions becomes known.

References

Mar 1, 1997·Archives of Oral Biology·P M CollierC W Gibson
Feb 11, 2000·Archives of Oral Biology·S HartJ T Wright
Sep 27, 2000·Journal of Dental Research·D B RavassipourJ T Wright
Feb 24, 2001·Journal of Dental Research·S A KindelanB M Stringer

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Citations

Sep 6, 2003·Calcified Tissue International·E ChenC W Gibson
Jul 12, 2005·Calcified Tissue International·S K PrakashI B van den Veyver
Oct 14, 2003·Journal of Dentistry·Gamze ArenErhan Firatli
Nov 17, 2005·Journal of Consulting and Clinical Psychology·Mark S RyeMasako Ito
Apr 9, 2008·The Journal of Biological Chemistry·Yong LiCarolyn W Gibson
Apr 14, 2006·Cells, Tissues, Organs·Carolyn W GibsonJ Timothy Wright
Jul 14, 2007·Cells, Tissues, Organs·Jean-Yves SireXun Gu
Jul 14, 2007·Cells, Tissues, Organs·Jan C-C HuJames P Simmer
May 21, 2011·Cells, Tissues, Organs·Junsheng FengShuo Chen
Jan 1, 2010·Journal of Dental Research·M K PugachC W Gibson
Oct 26, 2005·Journal of Dental Research·D OzdemirT C Hart
Oct 26, 2005·Journal of Dental Research·D OzdemirT C Hart
Sep 26, 2006·Journal of Dental Research·J D BartlettJ P Simmer
Apr 6, 2007·Orphanet Journal of Rare Diseases·Peter J M CrawfordAgnes Bloch-Zupan
Jun 2, 2012·Frontiers in Bioscience (Landmark Edition)·Janet Moradian-Oldak
Jun 17, 2009·American Journal of Medical Genetics. Part a·Sema BecerikThomas C Hart
Mar 7, 2003·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Michael L PaineMalcolm L Snead
Aug 20, 2003·International Journal of Paediatric Dentistry·T LykogeorgosM J Aldred
May 6, 2006·European Journal of Oral Sciences·Jean-Yves SireMarc Girondot
Feb 22, 2005·Archives of Oral Biology·Jean-Yves SireMarc Girondot
May 17, 2005·Archives of Oral Biology·Darren B RavassipourJ Tim Wright
Jun 9, 2004·Journal of Human Evolution·Uri ZilbermanSilvana Condemi
Aug 2, 2005·Protein Expression and Purification·Angela L TaylorDan Deutsch
Mar 23, 2005·Gene·Carolyn W GibsonJennifer Kirkham
May 6, 2006·European Journal of Oral Sciences·Jung-Wook KimJan C-C Hu
Jul 14, 2006·American Journal of Medical Genetics. Part a·J Timothy Wright
Sep 4, 2003·Connective Tissue Research·J T WrightT C Hart
Sep 16, 2004·The Journal of Clinical Pediatric Dentistry·V K GopinathM Ravichandran
Jul 25, 2007·Archives of Oral Biology·Béatrice RichardJean-Yves Sire
Jan 26, 2006·Journal of Dental Research·S DelgadoJ-Y Sire
Nov 24, 2005·Journal of Dental Research·G StephanopoulosK Lyroudia
Feb 26, 2008·Journal of Dental Research·K TakamoriY Chai
May 27, 2008·Journal of Dental Research·K Kawasaki, K M Weiss
Dec 6, 2003·Critical Reviews in Oral Biology and Medicine : an Official Publication of the American Association of Oral Biologists·J C-C Hu, Y Yamakoshi
Mar 27, 2007·Journal of Dental Research·S DelgadoJ-Y Sire
Mar 27, 2007·Journal of Dental Research·C W GibsonJ T Wright
Aug 26, 2006·Journal of Dental Research·H C MargolisC E Fowler
Feb 8, 2005·Journal of Molecular Evolution·Sidney DelgadoJean-Yves Sire
Jun 12, 2019·Journal of Dental Research·X DuanC F Boerkoel
Jun 27, 2019·Proceedings of the National Academy of Sciences of the United States of America·Jinhui TaoBarbara J Tarasevich
Apr 23, 2021·Calcified Tissue International·Nattanan GovitvattanaYoshiyuki Mochida

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