Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.G6R
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PAX9

NM_001372076.1:p.G6R

Associated Papers

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

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

The clinical significance and correlative signaling pathways of paired box gene 9 in development and carcinogenesis.

Bhol CS et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 2021

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.

Williamson KA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31700164 (PubMed )
Supplement: 41436_2019_685_MOESM12_ESM.xlsx › Paralogs

A novel PAX9 mutation found in a Chinese patient with hypodontia via whole exome sequencing.

Zhang T et al.

Oral Diseases, 2019

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

Novel PAX9 mutation associated with syndromic tooth agenesis.

Mostowska A et al.

European Journal of Oral Sciences, 2013

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

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

Wang Y et al.

Human Molecular Genetics, 2009

Identification and functional analysis of two novel PAX9 mutations.

Wang Y et al.

Cells, Tissues, Organs, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."