Literature DB >> 15264286

A novel MSX1 mutation in hypodontia.

S De Muynck1, E Schollen, G Matthijs, A Verdonck, K Devriendt, C Carels.   

Abstract

MSX1 mutations have been reported in four unrelated families with autosomal dominant tooth agenesis. In one family, some individuals also had cleft lip and/or palate. We have identified a novel MSX1 mutation (559 C --> T, resulting in Gln187Stop) in three individuals of one family. Copyright 2004 Wiley-Liss, Inc.

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Year:  2004        PMID： 15264286     DOI： 10.1002/ajmg.a.30181

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  27 in total

1.  MSX1 and orofacial clefting with and without tooth agenesis.

Authors:  A Modesto; L M Moreno; K Krahn; S King; A C Lidral
Journal:  J Dent Res       Date:  2006-06       Impact factor: 6.116

2.  Novel MSX1 frameshift causes autosomal-dominant oligodontia.

Authors:  J-W Kim; J P Simmer; B P-J Lin; J C-C Hu
Journal:  J Dent Res       Date:  2006-03       Impact factor: 6.116

3.  A novel c.581C>T transition localized in a highly conserved homeobox sequence of MSX1: is it responsible for oligodontia?

Authors:  Adrianna Mostowska; Barbara Biedziak; Wiesław H Trzeciak
Journal:  J Appl Genet       Date:  2006       Impact factor: 3.240

4.  A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families.

Authors:  Muhammad S Chishti; Dost Muhammad; Mahmud Haider; Wasim Ahmad
Journal:  J Hum Genet       Date:  2006-08-24       Impact factor: 3.172

5.  Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia.

Authors:  Munefumi Kamamoto; Junichiro Machida; Seishi Yamaguchi; Masashi Kimura; Takao Ono; Peter A Jezewski; Yujiro Higashi; Atsuo Nakayama; Kazuo Shimozato; Yoshihito Tokita
Journal:  Eur J Hum Genet       Date:  2011-03-30       Impact factor: 4.246

6.  Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders.

Authors:  A Butali; P A Mossey; W L Adeyemo; P A Jezewski; C K Onwuamah; M O Ogunlewe; V I Ugboko; O Adejuyigbe; A I Adigun; L O Abdur-Rahman; I I Onah; R A Audu; E O Idigbe; M A Mansilla; E A Dragan; A L Petrin; S A Bullard; A O Uduezue; O Akpata; A O Osaguona; H O Olasoji; T O Ligali; B M Kejeh; K R Iseh; P B Olaitan; A R Adebola; E Efunkoya; O A Adesina; O M Oluwatosin; J C Murray
Journal:  Cleft Palate Craniofac J       Date:  2011-07-08

Review 7.  Genetic background of nonsyndromic oligodontia: a systematic review and meta-analysis.

Authors:  Sabine Ruf; Dana Klimas; Mario Hönemann; Sarah Jabir
Journal:  J Orofac Orthop       Date:  2013-07-05       Impact factor: 1.938

8.  Nonsyndromic oligodontia : Does the Tooth Agenesis Code (TAC) enable prediction of the causative mutation?

Authors:  Niko C Bock; Sarah Lenz; Gisela Ruiz-Heiland; Sabine Ruf
Journal:  J Orofac Orthop       Date:  2017-02-15       Impact factor: 1.938

Review 9.  MSX1 mutations and associated disease phenotypes: genotype-phenotype relations.

Authors:  Jia Liang; Johannes Von den Hoff; Joanna Lange; Yijin Ren; Zhuan Bian; Carine E L Carels
Journal:  Eur J Hum Genet       Date:  2016-07-06       Impact factor: 4.246

10.  Domain duplication, divergence, and loss events in vertebrate Msx paralogs reveal phylogenomically informed disease markers.

Authors:  John R Finnerty; Maureen E Mazza; Peter A Jezewski
Journal:  BMC Evol Biol       Date:  2009-01-20       Impact factor: 3.260
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