ReviewCold Spring Harbor perspectives in medicine2019
Hair-Bundle Links: Genetics as the Gateway to Function.
Review in Cold Spring Harbor perspectives in medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
53 citing papers in PubMed, 70 citations in OpenAlex.
- Review
- Compound Heterozygous PCDH15 Variants Associated With Cone-Rod Dystrophy in a Chinese Pedigree.Molecular genetics & genomic medicine · 2026Article
- Overlapping expression and co-operative function of the zebrafish pcdh15 paralogs.Communications biology · 2026Article
- First clinical report of a rare PDZD7 nonsense variant and recurrent mutations in Iranian families with autosomal recessive non-syndromic hearing loss.BMC medical genomics · 2025Article
- Role of Pcdh15 in the development of intrinsic polarity of inner ear hair cells.PLoS genetics · 2025Article
- Whole Exome Sequencing Identifies Novel Splicing Variants in the PTPRQ Gene and Their Mechanisms in Autosomal Recessive Non-Syndromic Hearing Loss.Journal of otology · 2025Article
- Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing.BMC medical genomics · 2025Article
- MYO7A is required for the functional integrity of the mechanoelectrical transduction complex in hair cells of the adult cochlea.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Current approaches for Usher syndrome disease models and developing therapies.Frontiers in cell and developmental biology · 2025Review
- Gating-spring stiffness increases outer-hair-cell bundle stiffness, damping, and receptor current.Scientific reports · 2024Article
- PKHD1L1 is required for stereocilia bundle maintenance, durable hearing function and resilience to noise exposure.Communications biology · 2024Article
- 3D morphology of an outer-hair-cell hair bundle increases its displacement and dynamic range.Biophysical journal · 2024Article
- Unique transcriptomes of sensory and non-sensory neurons: insights from Splicing Regulatory States.Molecular systems biology · 2024Review
- PKHD1L1 is required for stereocilia bundle maintenance, durable hearing function and resilience to noise exposure.bioRxiv : the preprint server for biology · 2024Article
- Microvilli regulate the release modes of alpha-tectorin to organize the domain-specific matrix architecture of the tectorial membrane.bioRxiv : the preprint server for biology · 2024Article
- Sensory cells in tunicates: insights into mechanoreceptor evolution.Frontiers in cell and developmental biology · 2024Review
- Deafness: from genetic architecture to gene therapy.Nature reviews. Genetics · 2023Review
- Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss.Biomedicines · 2023Article
- The actin cytoskeleton in hair bundle development and hearing loss.Hearing research · 2023Review
- Deafness-Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Up to five distinct cell-surface specializations interconnect the stereocilia and the kinocilium of the mature hair bundle in some species: kinocilial links, tip links, top connectors, shaft connectors, and ankle links. In developing hair bundles, transient lateral links are prominent. Mutations in genes encoding proteins associated with these links cause Usher deafness/blindness syndrome or nonsyndromic (isolated) forms of human hereditary deafness, and mice with constitutive or conditional alleles of these genes have provided considerable insight into the molecular composition and function of the different links. We describe the structure of these links and review evidence showing CDH23 and PCDH15 are components of the tip, kinocilial, and transient-lateral links, that stereocilin (STRC) and protein tyrosine phosphatase (PTPRQ) are associated with top and shaft connectors, respectively, and that USH2A and ADGRV1 are associated with the ankle links. Whereas tip links are required for mechanoelectrical transduction, all link proteins play key roles in the normal development and/or the maintenance of hair bundle structure and function. Recent crystallographic and single-particle analyses of PCDH15 and CDH23 provide insight as to how the structure of tip link may contribute to the elastic element predicted to lie in series with the hair cell's mechanoelectrical transducer channel.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.