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Paired box 9

PAX9
This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 9 gene is unknown but it may involve development of stratified squamous epithelia as well as various organs and skeletal elements. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: MSX1, AXIN2, CAN, HAD, WNT10A
Papers on PAX9
A novel initiation codon mutation of PAX9 in a family with oligodontia.
New
Bian et al., Wuhan, China. In Arch Oral Biol, Jan 2016
OBJECTIVE: Recent studies have attributed non-syndromic tooth agenesis to mutations in several genes, including MSX1, PAX9, AXIN2, WNT10A and EDA.
A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population.
New
Gil-da-Silva-Lopes et al., 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.
DNA methylation is critical for tooth agenesis: implications for sporadic non-syndromic anodontia and hypodontia.
New
Lin et al., Shanghai, China. In Sci Rep, Dec 2015
We scanned another female with non-syndromic anodontia and her younger brother with the same gene mutations of the PAX9,MSX1,AXIN2 and EDA, but without developmental abnormalities in the dentition.
GREMLIN 2 Mutations and Dental Anomalies.
New
Ketudat Cairns et al., Chiang Mai, Thailand. In J Dent Res, Dec 2015
It has been associated with mutations in MSX1, PAX9, EDA, AXIN2, EDAR, EDARADD, and WNT10A.
Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population.
New
In Neuro Endocrinol Lett, Dec 2015
Among genes involved in tooth morphogenesis, mutations in PAX9, MSX1, AXIN2, WNT10a, and EDA genes have been associated with tooth agenesis.
Interaction between HCMV infection and PAX9 gene polymorphisms in low birth weight infants.
New
Bai et al., Lanzhou, China. In J Matern Fetal Neonatal Med, Oct 2015
OBJECTIVE: To investigate the interaction between human cytomegalovirus infection and PAX9 gene polymorphisms in low birth weight (LBW) infants.
PAX transcription factors in neural crest development.
Review
New
Monsoro-Burq, Orsay, France. In Semin Cell Dev Biol, Aug 2015
The nine vertebrate PAX transcription factors (PAX1-PAX9) play essential roles during early development and organogenesis.
Diagnostic Performance of Plasma DNA Methylation Profiles in Lung Cancer, Pulmonary Fibrosis and COPD.
New
Weinhäusel et al., Vienna, Austria. In Ebiomedicine, Aug 2015
The results were confirmed using an independent sample set (n = 46) by use of the four top markers discovered in the study (HOXD10, PAX9, PTPRN2, and STAG3) yielding an AUC of 0.85 (95%CI: 0.72-0.95).
A Nonsyndromic Autosomal Dominant Oligodontia with A Novel Mutation of PAX9-A Clinical and Genetic Report.
New
Puttashamachari et al., Bengaluru, India. In J Clin Diagn Res, Jun 2015
Mutations in MSX1 and PAX9 have been described in families in which inherited oligodontia characteristically involves permanent incisors, lateral incisors, premolars and molars.
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.
Tokita et al., Nagoya, Japan. In Plos One, 2014
Congenital tooth agenesis is caused by mutations in the MSX1, PAX9, WNT10A, or AXIN2 genes.
Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review.
Review
Nieminen et al., Barcelona, Spain. In Med Oral Patol Oral Cir Bucal, 2014
OBJECTIVE: In the present study, it is describe the phenotypical analysis and the mutational screening, for genes PAX9 and MSX1, of six families affected by severe forms of tooth agenesis associated with other dental anomalies and systemic entities.
Genetic basis of dental agenesis--molecular genetics patterning clinical dentistry.
Review
Chhabra et al., 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.
Review
Jabir et al., 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.
Molecular factors resulting in tooth agenesis and contemporary approaches for regeneration: a review.
Review
Vieira et al., Pittsburgh, United States. In Eur Arch Paediatr Dent, 2012
Emphasis is placed on four interacting signaling families (Shh, FGF, BMP, and Wnt) that have been identified for their integral role in complete tooth development and on several genetic mutations in the MSX1, PAX9, EDA, and AXIN2 genes that arrest tooth development.
Novel missense mutations in PAX9 causing oligodontia.
GeneRIF
Bian et al., 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.
A novel nonsense mutation in PAX9 is associated with sporadic hypodontia.
GeneRIF
Zheng et al., Beijing, China. In Mutagenesis, 2012
reduced transcriptional activity of the novel nonsense codon mutated PAX9 protein suggested that the severe phenotype may result from haploinsufficiency of PAX9.
Revision of "A 223-kb de novo deletion of PAX9 in a patient with oligodontia".
GeneRIF
Ming et al., Philadelphia, United States. In J Craniofac Surg, 2012
The findings in this patient illustrate the role of the PAX9 gene in tooth development and provide the first example of a de novo deletion of 14q13.3 manifesting primarily with oligodontia.
Understanding the implications of the PAX9 gene in tooth development.
GeneRIF
Squitti et al., Roma, Italy. In Eur J Paediatr Dent, 2011
Pax9hapl a may have a protective effect against sporadic oligodontia
Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.
GeneRIF
Dahl et al., 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
Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.
Impact
Busslinger et al., Vienna, Austria. In Nat Genet, 1993
PAX-9 is a novel family member which is closely related in its paired domain to PAX-1.
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