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

Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.

Journal of cellular physiology - 1 Apr 2006

Kim Hyo-Jin, Nam Soon-Hyeun, Kim Hyun-Jung, Park Hyo-Sang, Ryoo Hyun-Mo, Kim Shin-Yoon, Cho Tae-Joon, Kim Seung-Gon, Bae Suk-Chul, Kim In-San, Stein Janet L, van Wijnen Andre J, Stein Gary S, Lian Jane B, Choi Je-Yong

Abstract excerpt

Cleidocranial dysplasia (CCD) is an autosomal dominant disorder caused by haploinsufficiency of the RUNX2 gene. In this study, we analyzed by direct sequencing RUNX2 mutations from eleven CCD patients. Four of seven mutations were novel: two nonsense mutations resulted in a translational stop at codon 50 (Q50X) and 112 (E112X); a missense mutation converted arginine to glycine at codon 131 (R131G); and an exon 1...

Read the complete abstract on PubMed

Topics

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

Share to CHO Cells
Share to Cleidocranial Dysplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Core Binding Factor Alpha 1 Subunit

Share to Cytoplasm

Share to Nuclear Localization Signals

Share to Osteocalcin

Share to RNA Splice Sites

Source

Identifiers

PMID: 16270353
DOI: 10.1002/jcp.20552

Genes

RUNX2

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

Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.PMID 16270353Read ↗

A novel single-base deletion of the RUNX Family Transcription Factor 2 gene associated with cleidocranial dysplasia.Semantic proximity Read ↗

A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia.Semantic proximity Read ↗

RUNX2 mutations in Chinese patients with cleidocranial dysplasia.Semantic proximity Read ↗

Novel RUNX2 frameshift mutations in Chinese patients with cleidocranial dysplasia.Semantic proximity Read ↗

Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasiaSemantic proximity Read ↗

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia.Semantic proximity Read ↗

The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta.Semantic proximity Read ↗

Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case.Semantic proximity Read ↗

Role of the RUNX2 p.R225Q mutation in cleidocranial dysplasia: a rare presentation and an analysis of the RUNX2 protein structureSemantic proximity Read ↗

Identification and Functional Characterization of a Novel De Novo RUNX2 Frameshift Mutation Associated With Cleidocranial DysplasiaSemantic proximity Read ↗

Two Novel C-Terminus RUNX2 Mutations in Two Cleidocranial Dysplasia (CCD) Patients Impairing p53 Expression.Semantic proximity Read ↗

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia.Semantic proximity Read ↗

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