Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.

American journal of human genetics - 1 May 2004

Lammi Laura, Arte Sirpa, Somer Mirja, Jarvinen Heikki, Lahermo Paivi, Thesleff Irma, Pirinen Sinikka, Nieminen Pekka

Abstract excerpt

Wnt signaling regulates embryonic pattern formation and morphogenesis of most organs. Aberrations of regulation of Wnt signaling may lead to cancer. Here, we have used positional cloning to identify the causative mutation in a Finnish family in which severe permanent tooth agenesis (oligodontia) and colorectal neoplasia segregate with dominant inheritance. Eleven members of the family lacked at least eight...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anodontia
Share to Axin Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Colorectal Neoplasms

Share to Cytoskeletal Proteins

Share to Frameshift Mutation

Share to Lod Score

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 15042511
DOI: 10.1086/386293
PMCID: PMC1181967

Genes

AXIN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.PMID 15042511Read ↗

Functional analysis of a novel missense mutation in AXIN2 associated with non-syndromic tooth agenesis.Semantic proximity Read ↗

Axis inhibition protein 2 (AXIN2) polymorphisms and tooth agenesis.Semantic proximity Read ↗

AXIN2 variants, tooth agenesis, and cancer risk: a systematic review.Semantic proximity Read ↗

AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.Semantic proximity Read ↗

Mutations in AXIN2 gene as a risk factor for tooth agenesis and cancer: A review.Semantic proximity Read ↗

Tooth agenesis: A susceptible indicator for colorectal cancer?Semantic proximity Read ↗

AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.Semantic proximity Read ↗

WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer.Semantic proximity Read ↗

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

Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal ModelingSemantic proximity Read ↗

Tooth agenesis association with self-reported family history of cancer.Semantic proximity Read ↗

Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.