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Proteomics"Time-resolved quantitative proteomic analysis of the developing otic vesicle reveals putative congenital hearing loss candidates and a novel role for Tgfbi
A large number of congenital hearing loss cases have an unknown genetic etiology. So far, transcriptomic approaches have successfully identified many candidate regulators of otic development, little is known about the abundance of their protein products during the development of the inner eat. Herei...
ORGANISM(S): Xenopus laevis (African clawed frog) 
2023-10-24 | PXD041991 | Pride
Otic development Congenital hearing loss Xenopus laevis Temporal Extracellular matrix 
TranscriptomicsTranscription profiling of mouse age-related hearing loss cochlea in DBA/2J
Age-related hearing loss (AHL) is the progressive loss of auditory function with aging. The DBA/2J (DBA) mice have been used as a model of AHL and undergoes progressive, age-related hearing loss by 12 weeks of age. Here we analyzed cochlear gene expression of 7-week-old and 36-week-old DBA mice usin...
ORGANISM(S): Mus musculus 
2008-06-14 | E-GEOD-6045 | biostudies-arrayexpress
GenomicsTwo monogenic disorders masquerading as one: Severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss
We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. We performed whole exome sequencing to identify the causative variants. We identified and cla...
EGAS00001004176 | EGA
TranscriptomicsExome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss
Background The genetic diversity of loci and mutations underlying hereditary hearing loss is an active area of investigation. To identify loci associated with predominantly non-syndromic sensorineural hearing loss, we performed exome sequencing of families and of single probands, as well as copy num...
ORGANISM(S): Homo sapiens 
2014-12-19 | E-GEOD-64088 | biostudies-arrayexpress
TranscriptomicsGene expression profile of the germaniumu dioxide-related hearing loss cochlea in CBA mice
Various organ failure induced by chronic intake of GeO2 is one of the well known disease related to mitochondrial dysfunction. The 0.15% GeO2 treated CBA mice shows severe hearing loss in 4M. Here we analyzed cochlear gene expression of 6 months old CBA mice using microarrays treated with normal cho...
ORGANISM(S): Mus musculus 
2016-07-22 | E-GEOD-84735 | biostudies-arrayexpress
TranscriptomicsMolecular Analyses of 10q hemizygous deletions and parents
We report on the analyses of four unrelated patients with de novo, overlapping, hemizygous deletions of the long arm of chromosome 10. These include two small terminal deletions (10q26.2 to 10qter), a larger terminal deletion (10q26.12 to 10qter), and an interstitial deletion (10q25.3q26.13). Single...
ORGANISM(S): Homo sapiens 
2009-07-01 | E-GEOD-11958 | biostudies-arrayexpress
GenomicsHuman Otic progenitor cell models of congenital hearing loss applied to to Zika virus and cytomegalovirus infections
Human Otic progenitor cell models of congenital hearing loss applied to to Zika virus and cytomegalovirus infections
PRJNA979250 | ENA
UnknownFetal gene therapy and pharmacotherapy to treat congenital hearing loss and vestibular dysfunction.
Not available
S-EPMC7906278 | biostudies-literature
UnknownVariants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.
Not available
S-EPMC9034991 | biostudies-literature
GenomicWhole Exome Sequence of Hearing Loss Family

Our goal is to find genes responsible for non-syndromic sensorineural hearing loss. Blood samples were collected from the JS6 family affected with hearing loss. The family is of Caribbean Hispanic ethnicity. Family JS6 consisted of two deaf siblings, JS6.001 (Male) and JS6.002 (Female) and health...

phs000969 | dbGaP
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