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

Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.

Human mutation - 1 Jan 1998

Kumar S, Kimberling W J, Weston M D, Schaefer B G, Berg M A, Marres H A, Cremers C W

Abstract excerpt

The Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial clefts, preauricular sinuses, hearing loss, and renal anomalies. Recent studies have shown that mutations in EYA1 are associated with BOR. However, the underlying molecular mechanisms by which mutations in the EYA1 gene cause BOR syndrome are unknown. We have investigated 12 unrelated Caucasian families for...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Base Sequence
Share to DNA Primers

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Mutation

Share to Nuclear Proteins

Share to Pedigree

Source

Identifiers

PMID: 9603436
DOI: 10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.0.CO;2-S

Genes

EYA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.PMID 9603436Read ↗

Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.Semantic proximity Read ↗

A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome.Semantic proximity Read ↗

Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.Semantic proximity Read ↗

Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1.Semantic proximity Read ↗

Novel EYA1 variants causing Branchio-oto-renal syndrome.Semantic proximity Read ↗

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.Semantic proximity Read ↗

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1Semantic proximity Read ↗

EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions.Semantic proximity Read ↗

Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene.Semantic proximity Read ↗

A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.Semantic proximity Read ↗

Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome.Semantic proximity Read ↗

A family affected by branchio-oto syndrome with EYA1 mutations.Semantic proximity Read ↗

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