A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families
MS Chishti, D Muhammad, M Haider… - Journal of human …, 2006 - nature.com
Tooth agenesis constitutes the most common anomaly of dental development in humans. In
the majority of familial cases of hypodontia alone or in association with other anomalies, the …
the majority of familial cases of hypodontia alone or in association with other anomalies, the …
A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia
SW Wong, HC Liu, D Han, HG Chang, HS Zhao… - …, 2014 - academic.oup.com
Oligodontia, which is the congenital absence of six or more permanent teeth, excluding the
third molars, may contribute to masticatory dysfunction, speech alteration, aesthetic …
third molars, may contribute to masticatory dysfunction, speech alteration, aesthetic …
Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia
O Bonczek, P Bielik, P Krejčí, T Zeman… - PLoS …, 2018 - journals.plos.org
Tooth agenesis is one of the most common craniofacial disorders in humans. More than 350
genes have been associated with teeth development. In this study, we enrolled 60 child …
genes have been associated with teeth development. In this study, we enrolled 60 child …
Identification of a novel missense mutation of MSX1 gene in Chinese family with autosomal-dominant oligodontia
K Xuan, F Jin, YL Liu, LT Yuan, LY Wen, FS Yang… - Archives of Oral …, 2008 - Elsevier
OBJECTIVES: Oligodontia is defined as the congenital absence of 6 or more permanent
teeth excluding the third molar. The occurrence of non-syndromic still remains poorly …
teeth excluding the third molar. The occurrence of non-syndromic still remains poorly …
Novel MSX1 variants identified in families with nonsyndromic oligodontia
J Zheng, M Yu, H Liu, T Cai, H Feng, Y Liu… - International journal of …, 2021 - nature.com
The goal of this study was to identify MSX1 gene variants in multiple Chinese families with
nonsyndromic oligodontia and analyse the functional influence of these variants. Whole …
nonsyndromic oligodontia and analyse the functional influence of these variants. Whole …
A novel c.581C>T transition localized in a highly conserved homeobox sequence ofMSX1: is it responsible for oligodontia?
A Mostowska, B Biedziak, WH Trzeciak - Journal of Applied Genetics, 2006 - Springer
Even though selective tooth agenesis is the most common developmental anomaly of
human dentition, its genetic background still remains poorly understood. To date, familial as …
human dentition, its genetic background still remains poorly understood. To date, familial as …
Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene
S Alfawaz, F Fong, V Plagnol, FSL Wong, J Fearne… - Archives of oral …, 2013 - Elsevier
OBJECTIVE: Recently, several genes have been reported with mutations or variants that
underlie a number of syndromic and non-syndromic forms of oligodontia including MSX1 …
underlie a number of syndromic and non-syndromic forms of oligodontia including MSX1 …
Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia
M Goldenberg, P Das, M Messersmith… - Journal of dental …, 2000 - journals.sagepub.com
A frameshift mutation recently identified within the paired domain of the transcription factor,
PAX9, has been linked to a unique form of oligodontia in a single, multigenerational family …
PAX9, has been linked to a unique form of oligodontia in a single, multigenerational family …
Clinical and functional data implicate the Arg (151) Ser variant of MSX1 in familial hypodontia
M Kamamoto, J Machida, S Yamaguchi… - European Journal of …, 2011 - nature.com
Multiple previous reports confirm that several missense alleles of MSX1 exhibit Mendelian
inheritance of an oligodontia phenotype (agenesis of more than six secondary teeth besides …
inheritance of an oligodontia phenotype (agenesis of more than six secondary teeth besides …
A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis
S AlFawaz, V Plagnol, FSL Wong, DP Kelsell - Archives of oral biology, 2015 - Elsevier
Objectives In this study, the aim was to investigate a consanguineous Saudi family with non-
syndromic premolars and third molars agenesis and to identify the causal mutation (s) using …
syndromic premolars and third molars agenesis and to identify the causal mutation (s) using …