ArticleClinical genetics2009
USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.
Article in Clinical genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
30 citing papers in PubMed, 49 citations in OpenAlex.
- Usher Syndrome: New Insights into Classification, Genotype-Phenotype Correlation, and Management.Genes · 2025Review
- MultiBac System-based Purification and Biophysical Characterization of Human Myosin-7a.Journal of visualized experiments : JoVE · 2024Article
- Usher Syndrome.Audiology research · 2022Review
- Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy.International journal of molecular sciences · 2021Review
- The small EF-hand protein CALML4 functions as a critical myosin light chain within the intermicrovillar adhesion complex.The Journal of biological chemistry · 2020Article
- A new light chain for myosin-7.The Journal of biological chemistry · 2020Article
- Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.Frontiers in genetics · 2020Review
- Genetic Hearing Loss and Gene Therapy.Genomics & informatics · 2018Article
- Variants in CIB2 cause DFNB48 and not USH1J.Clinical genetics · 2018Article
- Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.European journal of human genetics : EJHG · 2016Article
- In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype.International journal of ophthalmology · 2016Article
- Genetics of Hearing Loss: Syndromic.Otolaryngologic clinics of North America · 2015Review
- Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Biochimica et biophysica acta · 2015Review
- Targeted next generation sequencing for molecular diagnosis of Usher syndrome.Orphanet journal of rare diseases · 2014Article
- Article
- A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II.Clinical and experimental otorhinolaryngology · 2013Article
- Can fly photoreceptors lead to treatments for rho ((P23H)) -linked retinitis pigmentosa?Journal of ophthalmic & vision research · 2013Article
- Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.Nature genetics · 2012Article
- Crag is a GEF for Rab11 required for rhodopsin trafficking and maintenance of adult photoreceptor cells.PLoS biology · 2012Article
- Genetic disorders of the vestibular system.Current opinion in otolaryngology & head and neck surgery · 2011Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
Usher syndrome (USH) is a hereditary disorder associated with sensorineural hearing impairment, progressive loss of vision attributable to retinitis pigmentosa (RP) and variable vestibular function. Three clinical types have been described with type I (USH1) being the most severe. To date, six USH1 loci have been reported. We ascertained two large Pakistani consanguineous families segregating profound hearing loss, vestibular dysfunction, and RP, the defining features of USH1. In these families, we excluded linkage of USH to the 11 known USH loci and subsequently performed a genome-wide linkage screen. We found a novel USH1 locus designated USH1H that mapped to chromosome 15q22-23 in a 4.92-cM interval. This locus overlaps the non-syndromic deafness locus DFNB48 raising the possibility that the two disorders may be caused by allelic mutations.
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Registered trials
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.