Investigation of a Novel
LRP6 gene
experimental study
molecular dynamics analysis
tooth agenesis
whole-exome sequencing
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2021
2021
Historique:
received:
30
03
2021
accepted:
16
06
2021
entrez:
26
7
2021
pubmed:
27
7
2021
medline:
27
7
2021
Statut:
epublish
Résumé
The low-density lipoprotein receptor-related protein 6 ( After routine clinical evaluation, the proband was subjected to whole-exome sequencing (WES) to detect the diagnostic variant. Next, WES identified a novel variant, designated as The present study expanded the mutation spectrum of human TA in the
Sections du résumé
BACKGROUND
BACKGROUND
The low-density lipoprotein receptor-related protein 6 (
METHODS
METHODS
After routine clinical evaluation, the proband was subjected to whole-exome sequencing (WES) to detect the diagnostic variant. Next,
RESULTS
RESULTS
WES identified a novel variant, designated as
CONCLUSION
CONCLUSIONS
The present study expanded the mutation spectrum of human TA in the
Identifiants
pubmed: 34306029
doi: 10.3389/fgene.2021.688241
pmc: PMC8292820
doi:
Types de publication
Journal Article
Langues
eng
Pagination
688241Informations de copyright
Copyright © 2021 Huang, Gao, Zheng, Chen, Yan, Sun, Dong, Yang and Zhang.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Biochem Biophys Res Commun. 1998 Jul 30;248(3):879-88
pubmed: 9704021
J Dent Res. 2015 Jul;94(7):878-85
pubmed: 25910507
Proc Natl Acad Sci U S A. 2005 Sep 6;102(36):12843-8
pubmed: 16126904
Dev Cell. 2011 Nov 15;21(5):862-73
pubmed: 22000856
Science. 2008 Sep 5;321(5894):1350-3
pubmed: 18772438
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Genet Med. 2016 Nov;18(11):1158-1162
pubmed: 26963285
Science. 2007 Mar 2;315(5816):1278-82
pubmed: 17332414
Proteins. 1995 Nov;23(3):318-26
pubmed: 8710825
Semin Arthritis Rheum. 2013 Oct;43(2):220-40
pubmed: 23433961
Development. 2004 Nov;131(21):5469-80
pubmed: 15469977
Nature. 2000 Sep 28;407(6803):530-5
pubmed: 11029007
J Dent Res. 2008 Jul;87(7):617-23
pubmed: 18573979
Hum Mutat. 2013 Sep;34(9):1221-5
pubmed: 23703864
J Dent Res. 2018 Jan;97(1):49-59
pubmed: 28813618
J Chem Phys. 2020 Jul 28;153(4):044130
pubmed: 32752662
J Phys Chem B. 1998 Apr 30;102(18):3586-616
pubmed: 24889800
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
Front Endocrinol (Lausanne). 2020 Apr 09;11:165
pubmed: 32328030
Nature. 2000 Sep 28;407(6803):535-8
pubmed: 11029008
Int J Biochem Cell Biol. 2016 Aug;77(Pt A):23-29
pubmed: 27210503
Biomed Res Int. 2019 May 14;2019:2492590
pubmed: 31218223
Am J Hum Genet. 2016 Oct 6;99(4):877-885
pubmed: 27666373
J Dent Res. 2021 Apr;100(4):415-422
pubmed: 33164649
Orthod Craniofac Res. 2018 Feb;21(1):48-56
pubmed: 29271123
Am J Hum Genet. 2015 Oct 1;97(4):621-6
pubmed: 26387593