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

Lack of PDZD7 long isoform disrupts ankle-link complex and causes hearing loss in mice.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Jan 2020

Du Haibo, Zou Linzhi, Ren Rui, Li Nana, Li Jie, Wang Yanfei, Sun Jinpeng, Yang Jun, Xiong Wei, Xu Zhigang

Abstract excerpt

Usher syndrome (USH) is the most frequent form of combined hereditary deafness-blindness, characterized by hearing loss and retinitis pigmentosa, with or without vestibular dysfunction. PDZD7 is a PDZ domain-containing scaffold protein that was suggested to be a USH modifier and a contributor to digenic USH. In the inner ear hair cells, PDZD7 localizes at the ankle region of the stereocilia and constitutes the...

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Cochlea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hair Cells, Auditory

Share to Hearing Loss

Share to Mechanotransduction, Cellular

Share to Microscopy, Electron, Scanning

Share to Protein Isoforms

Share to Usher Syndromes

Source

Open in PubMed Open full text

Identifiers

PMID: 31914662
DOI: 10.1096/fj.201901657RR
PMCID: PMC8445656

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lack of PDZD7 long isoform disrupts ankle-link complex and causes hearing loss in mice.PMID 31914662Read ↗

Localization of PDZD7 to the Stereocilia Ankle-Link Associates this Scaffolding Protein with the Usher Syndrome Protein NetworkSemantic proximity Read ↗

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.Semantic proximity Read ↗

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairmentSemantic proximity Read ↗

The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.Semantic proximity Read ↗

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cellsSemantic proximity Read ↗

Structure of Myo7b/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosinsSemantic proximity Read ↗

Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures.Semantic proximity Read ↗

Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.Semantic proximity Read ↗

Novel Homozygous Mutation in PDZD7 Gene in a Family with Nonsyndromic Sensorineural Hearing LossSemantic proximity Read ↗

Disease mechanisms and gene therapy for Usher syndrome.Semantic proximity Read ↗

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.Semantic proximity Read ↗

Usher Syndrome: Genetics of a Human Ciliopathy.Semantic proximity Read ↗

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