Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.K91E
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PAX9

NM_001372076.1:p.K91E

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

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

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_MOESM5_ESM.docx

A review on non-syndromic tooth agenesis associated with PAX9 mutations.

Fauzi NH et al.

The Japanese Dental Science Review, 2018

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

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

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 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 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

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

Wang Y et al.

Human Molecular Genetics, 2009

Genetic basis of tooth agenesis.

Nieminen P

Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution, 2009

Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies.

Tallón-Walton V et al.

European Journal of Oral Sciences, 2007

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

Jumlongras D et al.

Human Genetics, 2004

Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia.

Das P et al.

American Journal of Medical Genetics. Part A, 2003

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