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

The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.

BMC medical genetics - 17 Jun 2010

Makarov Roman, Steiner Bernhard, Gucev Zoran, Tasic Velibor, Wieacker Peter, Wieland Ilse

Abstract excerpt

BACKGROUND: Mutations of EFNB1 cause the X-linked malformation syndrome craniofrontonasal syndrome (CFNS). CFNS is characterized by an unusual phenotypic pattern of inheritance, because it affects heterozygous females more severely than hemizygous males. This sex-dependent inheritance has been explained by random X-inactivation in heterozygous females and the consequences of cellular interference of wild type and...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Nonsense
Share to Craniosynostoses
Share to Frameshift Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutagenesis, Site-Directed

Share to Mutation, Missense

Share to RNA Splice Sites

Share to Syndrome

Share to X Chromosome Inactivation

Source

Open in PubMed Open full text

Identifiers

PMID: 20565770
DOI: 10.1186/1471-2350-11-98
PMCID: PMC2901216

Genes

EFNB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.PMID 20565770Read ↗

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).Semantic proximity Read ↗

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.Semantic proximity Read ↗

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.Semantic proximity Read ↗

Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.Semantic proximity Read ↗

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.Semantic proximity Read ↗

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.Semantic proximity Read ↗

Clinical and Neurodevelopmental Course in a Case of EFNB1-Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis.Semantic proximity Read ↗

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.Semantic proximity Read ↗

The First Description of Monozygotic Twin Females Discordant for the Craniofrontonasal Syndrome Phenotype and the Report of Four Novel Pathogenic Variants in the EFNB1 GeneSemantic proximity Read ↗

Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1.Semantic proximity Read ↗

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.Semantic proximity Read ↗

Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation.Semantic proximity Read ↗

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