ArticleHuman genetics2006
DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.
Article in Human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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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.
The trial behind it
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Who cites it
12 citing papers in PubMed, 21 citations in OpenAlex.
- The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.Communications biology · 2021Article
- Genetic Hearing Loss and Gene Therapy.Genomics & informatics · 2018Article
- The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.BMC medical genetics · 2018Article
- Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.American journal of human genetics · 2016Article
- Role of p19ink4d in the pathogenesis of hearing loss.International journal of clinical and experimental pathology · 2015Article
- A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.Journal of human genetics · 2014Article
- Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.Human genetics · 2011Article
- Identifying components of the hair-cell interactome involved in cochlear amplification.BMC genomics · 2009Article
- A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.American journal of medical genetics. Part A · 2009Article
- Mapping of a new autosomal recessive non-syndromic hearing impairment locus (DFNB45) to chromosome 1q43-q44.Clinical genetics · 2008Article
- The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.Human genetics · 2007Article
- Sites of alkylation of human Keap1 by natural chemoprevention agents.Journal of the American Society for Mass Spectrometry · 2007Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 3 countries.
Funding
Abstract
From a large collection of families with autosomal recessive non-syndromic hearing impairment (NSHI) from Pakistan, linkage has been established for two unrelated consanguineous families to 19p13.2. This new locus was assigned the name DFNB68. A 10 cM genome scan and additional fine mapping were carried out using microsatellite marker loci. Linkage was established for both families to DFNB68 with maximum multipoint LOD scores of 4.8 and 4.6. The overlap of the homozygous regions between the two families was bounded by D19S586 and D19S584, which limits the locus interval to 1.9 cM and contains 1.4 Mb. The genes CTL2, KEAP1 and CDKN2D were screened but were negative for functional sequence variants.
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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.