Results 231 to 240 of about 166,190 (339)

Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome

open access: yesClinical Genetics, Volume 109, Issue 1, Page 199-203, January 2026.
Jones syndrome (JS) is an ultra‐rare condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been associated with a pathogenic REST exon‐5 variant (c.2670_2673del) in a Finnish family. We describe the first Italian family with JS in which a novel pathogenic REST exon‐5 variant (c.2645T>G) was identified ...
Valentina Lodato   +15 more
wiley   +1 more source

Single‐Nucleus Transcriptomics Uncovers Xaf1‐Driven PANoptosis as a Therapeutic Target in Aminoglycoside‐Induced Hearing Loss

open access: yesCell Proliferation, Volume 59, Issue 1, January 2026.
Neomycin induces increased expression of Xaf1 in cochlear HCs, triggering PANoptosis, which encompasses pyroptosis, apoptosis and necroptosis (left). Targeted Xaf1 knockdown in HCs through gene therapy can significantly inhibit the occurrence of PANoptosis in HCs (right).
Xinlin Wang   +10 more
wiley   +1 more source

New cases of δ‐aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

open access: yesJournal of Internal Medicine, Volume 299, Issue 1, Page 126-142, January 2026.
Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Elena Di Pierro   +22 more
wiley   +1 more source

Adriamycin nephropathy induces sensorineural hearing loss via blood-labyrinth barrier breakdown in BALB/c mice. [PDF]

open access: yesSci Rep
Gajbhiye A   +10 more
europepmc   +1 more source

Emerging Therapies for Sensorineural Hearing Loss.

open access: yesOtology and Neurotology, 2017
Matthew G. Crowson   +2 more
semanticscholar   +1 more source

From Sound to Silence: Cerebellar Abscesses and Herniation Due to Cochlear Implant Infection With Escherichia coli and Bacteroides fragilis

open access: yesCase Reports in Infectious Diseases, Volume 2026, Issue 1, 2026.
Cochlear implantation (CI) is a safe and well‐established intervention for sensorineural hearing loss, with a low incidence of severe postoperative infections. We present the first reported case of cerebellar abscess and herniation due to CI infection. This unique case involves a 57‐year‐old man with recurrent cochlear implant infections, necessitating
Celine Molfetta   +5 more
wiley   +1 more source

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