An in vitro and computational validation of a novel loss-of-functional mutation in PAX9 associated with non-syndromic tooth agenesis
Author:
Funder
Department of Biotechnology , Ministry of Science and Technology
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00438-022-01970-7.pdf
Reference48 articles.
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2. Alfawaz S, Fong F, Plagnol V, Wong FS, Fearne J, Kelsell DP (2013) Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene. Arch Oral Biol 58:462–466. https://doi.org/10.1016/j.archoralbio.2012.12.008
3. Arnott S, Campbell-Smith PJ, Chandrasekaran R (1976) In: Handbook of Biochemistry and Molecular Biology. CRC Press, vol 3(2), pp 411-422
4. Arte S, Parmanen S, Pirinen S, Alaluusua S, Nieminen P (2013) Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations. PLoS ONE 8:e73705. https://doi.org/10.1371/journal.pone.0073705
5. Bergendal B, Klar J, Stecksen-Blicks C, Norderyd J, Dahl N (2011) Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes. Am J Med Genet A 155a:1616–1622. https://doi.org/10.1002/ajmg.a.34045
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