Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia

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 patients (age 13 to 17) with various types of tooth agenesis. Whole gene sequences of PAX9, MSX1, AXIN2, EDA, EDAR and WNT10...

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Veröffentlicht in:	PloS one 2018-09, Vol.13 (9), p.e0202989-e0202989
Hauptverfasser:	Bonczek, Ondřej, Bielik, Peter, Krejčí, Přemysl, Zeman, Tomáš, Izakovičová-Hollá, Lýdie, Šoukalová, Jana, Vaněk, Jiří, Gerguri, Tereza, Balcar, Vladimir J, Šerý, Omar
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Amino acids Anodontia - genetics Anodontia - pathology Biochemistry Bioinformatics Biology and Life Sciences Codon, Nonsense Dentistry Deoxyribonucleic acid Disruption DNA DNA sequencing Family Female Gene expression Gene mutation Gene sequencing Genes Genetic aspects Genetics Genomics High-Throughput Nucleotide Sequencing Homeobox Humans Laboratories Medicine Medicine and Health Sciences Models, Molecular Molars Msx1 protein MSX1 Transcription Factor - genetics Mutation Nails, Malformed Neurobiology Neurosciences Nonsense mutation Parameter estimation Pedigree Physiology Proteins Psychiatry Research and Analysis Methods Stop codon Teeth Tooth abnormalities Translation termination
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