Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.G51S
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PAX9

NM_001372076.1:p.G51S

Associated Papers

Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.

Gomez VL et al.

Current Issues in Molecular Biology, 2026

Tooth agenesis patterns and variants in PAX9: A systematic review.

Intarak N et al.

The Japanese Dental Science Review, 2023

37159578 (PubMed )
Supplement: mmc1.docx

The phenotype and genotype of PAX9 mutations causing tooth agenesis.

Jiang C et al.

Clinical Oral Investigations, 2023

An inclusive study of deleterious missense PAX9 variants using user-friendly tools reveals structural, functional alterations, as well as potential therapeutic targets.

Ranjan P et al.

International Journal of Biological Macromolecules, 2023

Genotype-phenotype pattern analysis of pathogenic PAX9 variants in Chinese Han families with non-syndromic oligodontia.

Ren J et al.

Frontiers in Genetics, 2023

37056289 (PubMed )
Supplement: Table1.XLSX › Sheet1

Four Novel PAX9 Variants and the PAX9-Related Non-Syndromic Tooth Agenesis Patterns.

Liu H et al.

International Journal of Molecular Sciences, 2022

35897718 (PubMed )
Supplement: ijms-23-08142-s001.zip › ijms-1830351-supplementary.pdf

Novel mutations identified in patients with tooth agenesis by whole-exome sequencing.

Zhao K et al.

Oral Diseases, 2019

The role of PAX9 promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population.

Abu-Siniyeh A et al.

The Application of Clinical Genetics, 2018

PAX9 gene mutations and tooth agenesis: A review.

Bonczek O et al.

Clinical Genetics, 2017

Characterization of PAX9 variant P20L identified in a Japanese family with tooth agenesis.

Murakami A et al.

Plos One, 2017

Effects of PAX9 and MSX1 gene variants to hypodontia, tooth size and the type of congenitally missing teeth.

Kirac D et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2016

Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis.

Haddaji Mastouri M et al.

Archives of Oral Biology, 2016

A novel initiation codon mutation of PAX9 in a family with oligodontia.

Liang J et al.

Archives of Oral Biology, 2016

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Association of BMP4 polymorphisms with isolated tooth agenesis in a Chinese Han population: a case-control study.

Gong M et al.

European Review for Medical and Pharmacological Sciences, 2015

Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review.

Tallón-Walton V et al.

Medicina Oral, Patologia Oral Y Cirugia Bucal, 2014

Genetic basis of dental agenesis--molecular genetics patterning clinical dentistry.

Chhabra N et al.

Medicina Oral, Patologia Oral Y Cirugia Bucal, 2014

Novel missense mutation in PAX9 gene associated with familial tooth agenesis.

Boeira BR et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2013

Novel missense mutations in PAX9 causing oligodontia.

Liang J et al.

Archives of Oral Biology, 2012

Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities.

Wang SK et al.

Plos One, 2012

Sequence analysis of PAX9, MSX1 and AXIN2 genes in a Chinese oligodontia family.

Wang J et al.

Archives of Oral Biology, 2011

[Msh homebox-1 polymorphisms and susceptibility to 198 sporadic tooth agenesis: a case-control study].

Wang H et al.

Zhonghua Kou Qiang Yi Xue Za Zhi = Zhonghua Kouqiang Yixue Zazhi = Chinese Journal of Stomatology, 2010

Multilevel complex interactions between genetic, epigenetic and environmental factors in the aetiology of anomalies of dental development.

Brook AH

Archives of Oral Biology, 2009

Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9.

Wang Y et al.

Human Molecular Genetics, 2009

PAX9 polymorphisms and susceptibility to sporadic tooth agenesis: a case-control study in southeast China.

Pan Y et al.

European Journal of Oral Sciences, 2008

A novel missense mutation in the paired domain of human PAX9 causes oligodontia.

Zhao J et al.

American Journal of Medical Genetics. Part A, 2007

A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth.

Hansen L et al.

European Journal of Oral Sciences, 2007

A novel mutation in PAX9 causes familial form of molar oligodontia.

Mostowska A et al.

European Journal of Human Genetics : Ejhg, 2006

A novel c.581C>T transition localized in a highly conserved homeobox sequence of MSX1: is it responsible for oligodontia?

Mostowska A et al.

Journal of Applied Genetics, 2006

Novel mutation of the initiation codon of PAX9 causes oligodontia.

Klein ML et al.

Journal of Dental Research, 2005

A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia.

Jumlongras D et al.

Human Genetics, 2004

Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia.

Mostowska A et al.

European Journal of Oral Sciences, 2003

The novel polymorphic variants within the paired box of the PAX9 gene are associated with selective tooth agenesis.

Kobielak A et al.

Folia Histochemica Et Cytobiologica, 2001

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