Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.M1V
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PAX9

NM_001372076.1:p.M1V

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

The phenotype and genotype of PAX9 mutations causing tooth agenesis.

Jiang C et al.

Clinical Oral Investigations, 2023

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

Familial oligodontia and regional odontodysplasia associated with a PAX9 initiation codon mutation.

Koskinen S et al.

Clinical Oral Investigations, 2019

Nine Novel PAX9 Mutations and a Distinct Tooth Agenesis Genotype-Phenotype.

Wong SW et al.

Journal of Dental Research, 2018

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

A novel G to A transition at initiation codon and exon-intron boundary of PAX9 identified in association with familial isolated oligodontia.

Sarkar T et al.

Gene, 2017

PAX9 gene mutations and tooth agenesis: A review.

Bonczek O et al.

Clinical Genetics, 2017

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 homozygous mutation disrupting the initiation codon in the SLURP1 gene underlies mal de Meleda in a consanguineous family.

Shah K et al.

Clinical and Experimental Dermatology, 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

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

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

Wang J et al.

Archives of Oral Biology, 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

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