Characterization of novel MSX1 mutations identified in Japanese patients with nonsyndromic tooth agenesis.
Since MSX1 and PAX9 are linked to the pathogenesis of nonsyndromic tooth agenesis, we performed detailed mutational analysis of these two genes sampled from Japanese patients. We identified two novel MSX1 variants with an amino acid substitution within the homeodomain; Thr174Ile (T174I) from a spora...
Main Authors: | Seishi Yamaguchi, Junichiro Machida, Munefumi Kamamoto, Masashi Kimura, Akio Shibata, Tadashi Tatematsu, Hitoshi Miyachi, Yujiro Higashi, Peter Jezewski, Atsuo Nakayama, Kazuo Shimozato, Yoshihito Tokita |
---|---|
Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2014-01-01
|
Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC4125152?pdf=render |
Similar Items
-
An aberrant splice acceptor site due to a novel intronic nucleotide substitution in MSX1 gene is the cause of congenital tooth agenesis in a Japanese family.
by: Tadashi Tatematsu, et al.
Published: (2015-01-01) -
Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia
by: Junya Adachi, et al.
Published: (2021-07-01) -
Novel MSX1 variants identified in families with nonsyndromic oligodontia
by: Jinglei Zheng, et al.
Published: (2021-01-01) -
MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population
by: L.T. Souza, et al.
Published: (2013-08-01) -
The role of Msx1 and Pax9 in pathogenetic mechanisms of tooth agenesis
by: Yani Corvianindya Rahayu, et al.
Published: (2009-09-01)