A study of non-syndromic hypodontia in a high risk population
J Vasudev - 2014 - etheses.bham.ac.uk
… dominant mode of inheritance often affecting MSX1 and PAX9. … A homozygous nonsense
mutation was identified within LTBP3, … , which suggests that there was an underlying genetic …
mutation was identified within LTBP3, … , which suggests that there was an underlying genetic …
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
T Tatematsu, M Kimura, M Nakashima, J Machida… - PLoS …, 2015 - journals.plos.org
… mutants caused by frameshift or nonsense mutations. We here report a rare case of an intronic
mutation of the MSX1 gene responsible for human tooth … of nonsyndromic oligodontia in …
mutation of the MSX1 gene responsible for human tooth … of nonsyndromic oligodontia in …
[PDF][PDF] Tooth agenesis; aetiological factors
A Azzaldeen, N Watted, A Mai, P Borbély… - Journal of Dental and …, 2017 - researchgate.net
… the aetiological factors underlying this common malformation. … in Msx1 and Pax9, missense
mutation R196P of Msx1 and … with familial hypodontia or oligodontia: MSX1, PAX9 AND …
mutation R196P of Msx1 and … with familial hypodontia or oligodontia: MSX1, PAX9 AND …
Genetic and environmental factors associated with hypodontia
AH Al-Ani - 2016 - ourarchive.otago.ac.nz
… were found with the AXIN2 and MSX1 genes. Analysis of the … Oligodontia and anodontia are
used to describe more severe … differences (polymorphisms) underlying complex human traits…
used to describe more severe … differences (polymorphisms) underlying complex human traits…
Genetic background of nonsyndromic oligodontia: a systematic review and meta-analysis.
S Ruf, D Klimas, M Hönemann… - Journal of Orofacial …, 2013 - search.ebscohost.com
… ) A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated
dental anomalies in … of a novel missense mutation of MSX1 gene in Chinese family with …
dental anomalies in … of a novel missense mutation of MSX1 gene in Chinese family with …
Identification of a Novel Mutation in LRP6 Gene Responsible for Non-Syndromic Hypodontia in a Palestinian Family
Y Shokeh - 2014 - scholar.ppu.edu
… in three genes have been identified in human: MSX1, PAX9 and AXIN2 … lamina, which in
turn proliferates into the underlying … The Arg656Stop nonsense mutation of Axin2 was found in …
turn proliferates into the underlying … The Arg656Stop nonsense mutation of Axin2 was found in …
A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia
H Liu, T Ding, Y Zhan, H Feng - PLoS One, 2015 - journals.plos.org
… Following mutation analysis of six genes (MSX1, PAX9, … reported no family history of tooth
agenesis or other ectodermal … of autosomal recessive ectodermal dysplasia or isolated tooth …
agenesis or other ectodermal … of autosomal recessive ectodermal dysplasia or isolated tooth …
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
… reported oligodontia (loss of more than six secondary teeth, … of an MSX1 missense
mutation in a family exhibiting a … tooth-loss pattern is consistent with previous reports of tooth …
mutation in a family exhibiting a … tooth-loss pattern is consistent with previous reports of tooth …
A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia
… extended Pakistani pedigrees segregating X-linked hypodontia … in an autosomal recessive,
autosomal dominant, X-linked … unrelated extended families with an X-linked recessive form of …
autosomal dominant, X-linked … unrelated extended families with an X-linked recessive form of …
MSX1 mutations and associated disease phenotypes: genotype-phenotype relations
… between epithelium and the underlying mesenchyme, and a series … 31 MSX1 variants
including 18 missense mutations, 5 … gene in a Chinese pedigree with oligodontia]. Zhonghua Kou …
including 18 missense mutations, 5 … gene in a Chinese pedigree with oligodontia]. Zhonghua Kou …