[HTML][HTML] Cabp2-gene therapy restores inner hair cell calcium currents and improves hearing in a DFNB93 mouse model

D Oestreicher, MM Picher, V Rankovic… - Frontiers in Molecular …, 2021 - frontiersin.org
… , in which cochlear morphology is preserved over a time … autosomal recessive hearing
impairment DFNB93, caused … Connected to that, our current analysis of the Cabp2 expression was …

First reported CABP2‐related non‐syndromic hearing loss in Northern Europe

IN Sheyanth, AT Højland, H Okkels… - … Genetics & Genomic …, 2021 - Wiley Online Library
… first case of CABP2-related autosomal recessive hearing loss in … the inner hair cells thus
affecting further transmission of auditory … 1G>T mutation, making an accurate estimate of carrier …

Identification of novel gene variants causing autosomal recessive non-syndromic hearing loss in Iranian families

M Ajam-Hosseini, F Parvini, A Angaji - 2024 - researchsquare.com
… , SNHL is caused by the degeneration of inner ear hair cells, … Here, we report two novel
mutations in CABP2 and OTOA … its expression has been reported in inner hair cells, supporting …

An update on autosomal recessive hearing loss and loci involved in it

M Koohiyan, M Hoseini… - Indian Journal of …, 2022 - journals.lww.com
… is expressed on the surface of the spiral limbus in the cochlea.[ … damage to inner hair cells'
sensibility as the main cause of … al Mutations in GJB2 as major causes of autosomal recessive

Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss

HR Park, S Kanwal, SO Lim, DE Nam, YJ Choi… - Molecular Biology …, 2020 - Springer
… are related to autosomal recessive hearing loss (DFNB). … , cognition, and emotional expression;
therefore, early … homozygous mutations in ESRRB, CDH23, TMIE, and CABP2 from five …

Calcium signaling and genetic rare diseases: An auditory perspective

EM Richard, T Maurice, B Delprat - Cell Calcium, 2023 - Elsevier
… as an autosomal recessive deafness gene (DFNB67) [30,31]. … animal models causes profound
hearing loss associated with … In addition, based on this study, CaBP2 would only have a …

CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells

D Oestreicher, S Chepurwar, K Kusch, V Rankovic… - bioRxiv, 2023 - biorxiv.org
… Transgenic expression of CaBP2 leads to substantial recovery of IHC synaptic … Mutations
in the CaBP2 gene cause moderate to severe autosomal recessive hearing impairment

A comprehensive review on inherited Sensorineural Hearing Loss and their syndromes

M Noman, SA Bukhari, M Tahir, S Ali - 2020 - preprints.org
… Several genes and their expressed protein families like (Myosin … with hearing loss are reported,
and their mutation spectrum … in hair cell ciliogenesis, cause autosomalrecessive severe …

A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

A Sarmadi, S Nasrniya, M Soleimani Farsani… - BMC Medical …, 2020 - Springer
… LRTOMT is expressed in sensory hair cells with a fundamental role in auditory and vestibular
… These findings indicate mutations in LRTOMT2 are associated with hair cell defects and …

Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades

M Shadab, AA Abbasi, A Ejaz… - Journal of Cellular …, 2024 - Wiley Online Library
… 85% of the disease-causing mutations in Mendelian disorders. Consequently, sequencing
the … CDH23 is expressed not only in the cochlear hair cells but also in the vestibular hair cells