A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population.
Campinas, Brazil. In J Craniomaxillofac Surg, Jan 2016
RESULTS: Twenty-four SNPs in 16 genes were significantly associated with the etiology of NSCLP, including MSX1, SPRY1, MSX2, PRSS35, TFAP2A, SHH, VAX1, TBX10, WNT11, PAX9, BMP4, JAG2, AXIN2, DVL2, KIF7, and TCBE3.
Genetic basis of dental agenesis--molecular genetics patterning clinical dentistry.
Delhi, India. In Med Oral Patol Oral Cir Bucal, 2014
To date, the mutation spectra of non-syndromic form of familial and sporadic tooth agenesis in humans have revealed defects in various such genes that encode transcription factors, MSX1 and PAX9 or genes that code for a protein involved in canonical Wnt signaling (AXIN2), and a transmembrane receptor of fibroblast growth factors (FGFR1).
Genetic background of nonsyndromic oligodontia: a systematic review and meta-analysis.
Gießen, Germany. In J Orofac Orthop, 2013
All these genes vary both in terms of number of identified mutations and in terms of number of documented patients: 33 mutations and 93 patients are on record for PAX9, 10 mutations and 51 patients for EDA, 12 mutations and 33 patients for MSX1, 6 mutations and 17 patients for AXIN2, and 1 mutation in 1 patient for EDARADD, NEMO, and KRT17 each.
Novel missense mutations in PAX9 causing oligodontia.
Wuhan, China. In Arch Oral Biol, 2012
Two novel missense mutations in Chinese families causing oligodontia: Leu27Pro (L27P) and Ile29Thr (I29T) in the paired-domain of PAX9. Analysis of homologous PAX proteins indicated that these two substitutions may affect the function of the PAX9 protein.
Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.
Jönköping, Sweden. In Am J Med Genet A, 2011
a cohort of 93 Swedish probands with non-syndromic, isolated oligodontia, mutations were identified in the EDARADD), AXIN2, MSX1, and PAX9 genes