Associated Papers
Using computer-generated protein models to analyze mutations linked to Amelogenesis Imperfecta.
Sharmin N et al.
Plos One, 2025
A novel ENAM mutation causes hypoplastic amelogenesis imperfecta.
Yu S et al.
Oral Diseases, 2022
ENAM mutations and digenic inheritance.
Zhang H et al.
Molecular Genetics & Genomic Medicine, 2019
Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.
Koruyucu M et al.
Journal of Dental Research, 2018
Amelogenesis Imperfecta; Genes, Proteins, and Pathways.
Smith CEL et al.
Frontiers in Physiology, 2017
Enamelin Directs Crystallite Organization at the Enamel-Dentine Junction.
Siddiqui S et al.
Journal of Dental Research, 2016
Ultrastructural analysis of the teeth affected by amelogenesis imperfecta resulting from FAM83H mutations and review of the literature.
Zhang C et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2015
ENAM mutations with incomplete penetrance.
Seymen F et al.
Journal of Dental Research, 2014
Target gene analyses of 39 amelogenesis imperfecta kindreds.
Chan HC et al.
European Journal of Oral Sciences, 2011
Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry.
Urzúa B et al.
Biochemical Genetics, 2011
Altered enamelin phosphorylation site causes amelogenesis imperfecta.
Chan HC et al.
Journal of Dental Research, 2010
The structure and composition of deciduous enamel affected by local hypoplastic autosomal dominant amelogenesis imperfecta resulting from an ENAM mutation.
Shore RC et al.
Cells, Tissues, Organs, 2010
Evolutionary analysis of mammalian enamelin, the largest enamel protein, supports a crucial role for the 32-kDa peptide and reveals selective adaptation in rodents and primates.
Al-Hashimi N et al.
Journal of Molecular Evolution, 2009
Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta.
Gutierrez SJ et al.
Archives of Oral Biology, 2007
Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG.
Pavlic A et al.
Archives of Oral Biology, 2007
Mutational analysis of candidate genes in 24 amelogenesis imperfecta families.
Kim JW et al.
European Journal of Oral Sciences, 2006
Phenotype of ENAM mutations is dosage-dependent.
Ozdemir D et al.
Journal of Dental Research, 2005
ENAM mutations in autosomal-dominant amelogenesis imperfecta.
Kim JW et al.
Journal of Dental Research, 2005
Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.
Hart TC et al.
Journal of Medical Genetics, 2003
Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature.
Hart PS et al.
Archives of Oral Biology, 2003
A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).
Mårdh CK et al.
Human Molecular Genetics, 2002
[Autosomal-dominant hypoplastic form of amelogenesis imperfecta].
Asikov P et al.
Stomatologiia. Stomatology, 0