Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.A240P
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PAX9

NM_001372076.1:p.A240P

Associated Papers

Screening for MSX1 and PAX9 gene variants among hypodontia patients in the Jordanian population.

Quran A et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2026

Genetic Factors of Teeth Impaction: Polymorphic and Haplotype Variants of PAX9, MSX1, AXIN2, and IRF6 Genes.

Trybek G et al.

International Journal of Molecular Sciences, 2023

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

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table1.XLS › Sheet

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

Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing.

Biedziak B et al.

Journal of Clinical Medicine, 2022

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

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

Zhang T et al.

Oral Diseases, 2019

Genotyping analysis of the Pax9 Gene in patients with maxillary canine impaction.

Vitria EE et al.

F1000research, 2019

WNT10A variants in relation to nonsyndromic hypodontia in eastern Slovak population.

Grejtakova D et al.

Journal of Genetics, 2018

Genetic study of non-syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case-series.

Haddaji Mastouri M et al.

European Journal of Oral Sciences, 2018

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

Fauzi NH et al.

The Japanese Dental Science Review, 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 TRAPPC6B splicing variant associates to restless legs syndrome.

Aridon P et al.

Parkinsonism & Related Disorders, 2016

De novo EDA mutations: Variable expression in two Egyptian families.

Gaczkowska A et al.

Archives of Oral Biology, 2016

PAX-9 polymorphism may be a risk factor for hypodontia: a meta-analysis.

Zhang W et al.

Genetics and Molecular Research : Gmr, 2014

Is there a link between ovarian cancer and tooth agenesis?

Bonds J et al.

European Journal of Medical Genetics, 2014

Mutational analysis of AXIN2, MSX1, and PAX9 in two Mexican oligodontia families.

Mu YD et al.

Genetics and Molecular Research : Gmr, 2013

[Identification of mutation in PAX9 gene in a Mongolian family with non-syndromic oligodontia].

Chen YJ et al.

Zhonghua Kou Qiang Yi Xue Za Zhi = Zhonghua Kouqiang Yixue Zazhi = Chinese Journal of Stomatology, 2013

PAX9 polymorphism and susceptibility to sporadic non-syndromic severe anodontia: a case-control study in southwest China.

Wang J et al.

Journal of Applied Oral Science : Revista Fob, 2013

Association of common PAX9 variants with permanent tooth size variation in non-syndromic East Asian populations.

Lee WC et al.

Journal of Human Genetics, 2012

Understanding the implications of the PAX9 gene in tooth development.

Arcuri C et al.

European Journal of Paediatric Dentistry, 2011

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

Wang J et al.

Archives of Oral Biology, 2011

PAX9 and MSX1 transcription factor genes in non-syndromic dental agenesis.

Paixão-Côrtes VR et al.

Archives of Oral Biology, 2011

Genetic variation among major human geographic groups supports a peculiar evolutionary trend in PAX9.

Paixão-Côrtes VR et al.

Plos One, 2011

Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis.

Pinho T et al.

European Journal of Orthodontics, 2010

Mutations in the PAX9 gene in sporadic oligodontia.

Pawlowska E et al.

Orthodontics & Craniofacial Research, 2010

[Analysis of clinical features and mutation associated with oligodontia].

Wang J et al.

Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal of Stomatology, 2009

Deletion of PAX9 and oligodontia: a third family and review of the literature.

Guala A et al.

International Journal of Paediatric Dentistry, 2008

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

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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