Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.A40G
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MSX1

NM_002448.3:p.A40G

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

Novel MSX1 Gene Variants in Chinese Children with Non-Syndromic Tooth Agenesis: A Clinical and Genetic Analysis.

Ding T et al.

Children (basel, Switzerland), 2024

39767847 (PubMed )
Supplement: children-11-01418-s001.zip › Supplement_Table_S1.xlsx › Sheet1

Orodental malformations associated with human MSX1 sequence variants.

Wang YL et al.

Journal of the American Dental Association (1939), 2024

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Characterization of novel MSX1 variants causally associated with non-syndromic oligodontia in Chinese families.

Zhao Y et al.

Molecular Genetics & Genomic Medicine, 2024

38069551 (PubMed )
Supplement: MGG3-12-e2334-s002.xls › Sheet1

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

Biedziak B et al.

Journal of Clinical Medicine, 2022

Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Liu YX et al.

Frontiers in Cardiovascular Medicine, 2022

36277747 (PubMed )
Supplement: Data_Sheet_1.xls › Data_Sheet_1

Two novel mutations in MSX1 causing oligodontia.

Yang L et al.

Plos One, 2020

31914153 (PubMed )
Supplement: pone.0227287.s007.docx

TGFβ3, MSX1, and MMP3 as Candidates for NSCL±P in an Indian Population.

Kumari P et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2019

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

Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia.

Bonczek O et al.

Plos One, 2018

A novel PAX9 mutation causing oligodontia.

Daw EM et al.

Archives of Oral Biology, 2017

Nonsyndromic oligodontia : Does the Tooth Agenesis Code (TAC) enable prediction of the causative mutation?

Bock NC et al.

Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopadie : Organ/official Journal Deutsche Gesellschaft Fur Kieferorthopadie, 2017

Characterization of PAX9 variant P20L identified in a Japanese family with tooth agenesis.

Murakami A et al.

Plos One, 2017

Mutations in MSX1, PAX9 and MMP20 genes in Saudi Arabian patients with tooth agenesis.

Shahid M et al.

European Journal of Medical Genetics, 2016

Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations.

Wattanarat O et al.

American Journal of Medical Genetics. Part A, 2016

Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.

Sun H et al.

Journal of Proteome Research, 2015

25698088 (PubMed )
Supplement: pr500944c_si_009.xlsx › SNV

A screen of a large Czech cohort of oligodontia patients implicates a novel mutation in the PAX9 gene.

Šerý O et al.

European Journal of Oral Sciences, 2015

Mutations in the MSX1 gene in Turkish children with non-syndromic tooth agenesis and other dental anomalies.

Ceyhan D et al.

Indian Journal of Dentistry, 2014

Is there a link between ovarian cancer and tooth agenesis?

Bonds J et al.

European Journal of Medical Genetics, 2014

OTX2 mutations contribute to the otocephaly-dysgnathia complex.

Chassaing N et al.

Journal of Medical Genetics, 2012

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