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Article

CACNA1S mutation-associated dental anomalies: A calcium channelopathy.

Oral diseases - 1 Apr 2024

Kantaputra P, Butali A, Eliason S, Chalkley C, Nakornchai S, Bongkochwilawan C, Kawasaki K, Kumchiang A, Ngamphiw C, Tongsima S, Ketudat Cairns J R, Olsen B, Intachai W, Ohazama A, Tucker A S, Amendt B A

Abstract excerpt

OBJECTIVES: To identify the molecular etiology of distinct dental anomalies found in eight Thai patients and explore the mutational effects on cellular functions. MATERIALS AND METHODS: Clinical and radiographic examinations were performed for eight patients. Whole exome sequencing, mutant protein modelling, qPCR, western blot analysis, scratch assays, immunofluorescence, confocal analysis, in situ hybridization,...

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Source

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Identifiers

PMID: 36825457
DOI: 10.1111/odi.14551
PMCID: PMC11229413

Genes

CACNA1S

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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