Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.K114*
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PAX9

NM_001372076.1:p.K114*

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

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM

An in vitro and computational validation of a novel loss-of-functional mutation in PAX9 associated with non-syndromic tooth agenesis.

Sarkar T et al.

Molecular Genetics and Genomics : Mgg, 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

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

PAX9 gene mutations and tooth agenesis: A review.

Bonczek O et al.

Clinical Genetics, 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

Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations.

Arte S et al.

Plos One, 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

Non-syndromic oligodontia with a novel mutation of PAX9.

Suda N et al.

Journal of Dental Research, 2011

Genetic basis of tooth agenesis.

Nieminen P

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

Identification of a novel missense mutation of MSX1 gene in Chinese family with autosomal-dominant oligodontia.

Xuan K et al.

Archives of Oral Biology, 2008

[Gene mapping in a Chinese family with autosomal dominant centralpuiverulent cataract].

Li ND et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2008

[A novel mutation of MSX1 gene in a Chinese pedigree with oligodontia].

Li WL et al.

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

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

A missense mutation in PAX9 in a family with distinct phenotype of oligodontia.

Lammi L et al.

European Journal of Human Genetics : Ejhg, 2003

Identification of a nonsense mutation in the PAX9 gene in molar oligodontia.

Nieminen P et al.

European Journal of Human Genetics : Ejhg, 2001

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