Associated Papers
Two novel AXIN2 variants in isolated tooth agenesis and the AXIN2-associated tooth agenesis pattern.
Geng C et al.
Bmc Oral Health, 2025
Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.
Voss RK et al.
Leukemia, 2025
Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.
Aceves-Ewing NM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
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
A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia.
Broekema MF et al.
Hereditary Cancer in Clinical Practice, 2023
AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.
Roht L et al.
Molecular Genetics & Genomic Medicine, 2023
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
Leclerc J et al.
Genes, Chromosomes & Cancer, 2023
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.
Chan JM et al.
Familial Cancer, 2022
Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?
Jensen JM et al.
Familial Cancer, 2022
Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population.
Yao J et al.
Cancer Biology & Medicine, 2022
Evaluation of Classic, Attenuated, and Oligopolyposis of the Colon.
Long JM et al.
Gastrointestinal Endoscopy Clinics of North America, 2022
Detection of a rare AXIN2 variant in an Iranian family with hypodontia and oligodontia.
Safari S et al.
Journal of Dental Research, Dental Clinics, Dental Prospects, 2022
Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma.
Macklin-Mantia SK et al.
Bmc Medical Genetics, 2020
Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta.
Andersson K et al.
Orphanet Journal of Rare Diseases, 2020
Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene.
Beard C et al.
Familial Cancer, 2019
A novel AXIN2 gene mutation in sagittal synostosis.
Yilmaz E et al.
American Journal of Medical Genetics. Part A, 2018
The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.
Williams MA et al.
Genes, 2018
Functional analysis of a novel missense mutation in AXIN2 associated with non-syndromic tooth agenesis.
Yue H et al.
European Journal of Oral Sciences, 2016
A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia.
Liu H et al.
Plos One, 2015
AXIN1 and AXIN2 variants in gastrointestinal cancers.
Mazzoni SM et al.
Cancer Letters, 2014
Genetic basis of dental agenesis--molecular genetics patterning clinical dentistry.
Chhabra N et al.
Medicina Oral, Patologia Oral Y Cirugia Bucal, 2014
Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia.
Wong S et al.
Archives of Oral Biology, 2014
A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.
Maupin KA et al.
Bone Research, 2013
Mutations in WNT10A are present in more than half of isolated hypodontia cases.
van den Boogaard MJ et al.
Journal of Medical Genetics, 2012
Frameshift mutations of Wnt pathway genes AXIN2 and TCF7L2 in gastric carcinomas with high microsatellite instability.
Kim MS et al.
Human Pathology, 2009
Concomitant activation of Wnt pathway and loss of mismatch repair function in human melanoma.
Castiglia D et al.
Genes, Chromosomes & Cancer, 2008
Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.
Lejeune S et al.
Human Mutation, 2006
Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis.
Mostowska A et al.
Journal of Human Genetics, 2006
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.
Lammi L et al.
American Journal of Human Genetics, 2004