Varaico: Literature-Extracted Genetic Variants

Gene:ENAM
Variant:p.S216L
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ENAM

NM_031889.3:p.S216L

Associated Papers

Intra-familial phenotype variant in hypoplastic amelogenesis imperfecta under a complex genetic component: a family report, whole-exome sequencing, and literature review.

Lanza CRM et al.

Journal of Applied Oral Science : Revista Fob, 2025

A novel ENAM mutation causes hypoplastic amelogenesis imperfecta.

Yu S et al.

Oral Diseases, 2022

The phosphorylation of serine55 in enamelin is essential for murine amelogenesis.

Dong C et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2022

Amelogenin phosphorylation regulates tooth enamel formation by stabilizing a transient amorphous mineral precursor.

Shin NY et al.

The Journal of Biological Chemistry, 2020

ENAM mutations and digenic inheritance.

Zhang H et al.

Molecular Genetics & Genomic Medicine, 2019

31478359 (PubMed )
Supplement: MGG3-7-e00928-s001.pdf

Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.

Koruyucu M et al.

Journal of Dental Research, 2018

29554435 (PubMed )
Supplement: ds_10.1177_0022034518763152.pdf

A secretory kinase complex regulates extracellular protein phosphorylation.

Cui J et al.

Elife, 2015

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

Secreted protein kinases.

Tagliabracci VS et al.

Trends in Biochemical Sciences, 2013

Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta.

Gutiérrez S et al.

Genetics and Molecular Biology, 2012

Target gene analyses of 39 amelogenesis imperfecta kindreds.

Chan HC et al.

European Journal of Oral Sciences, 2011

Altered enamelin phosphorylation site causes amelogenesis imperfecta.

Chan HC et al.

Journal of Dental Research, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."