Results 61 to 70 of about 2,252,434 (232)
Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss [PDF]
, 2012 Objective: Due to the fact that SLC26A4 has been suggested as the second cause of hearing loss (HL) in Iran as well as many other countries, obtaining more comprehensive information about SLC26A4 mutations can facilitate more efficient genetic services ...
Farrokhi, Effat. +7 more
core +1 more source
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger
Nature Communications, 2023 Pendrin (SLC26A4) is an anion exchanger expressed in the apical membranes of selected epithelia. Pendrin ablation causes Pendred syndrome, a genetic disorder associated with sensorineural hearing loss, hypothyroid goiter, and reduced blood pressure ...
Qianying Liu +17 more
doaj +1 more source
Neurobiology of Disease, 2023 Patients with SLC26A4 mutations exhibit highly variable hearing loss and vestibular dysfunction. Although Slc26a4 mutant mice similarly exhibit vestibular deficits, including circling behavior, head tilting, and torticollis, the underlying pathogenesis ...
Hiroki Watanabe +8 more
doaj +1 more source
The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion
Nature Communications, 2016 Mutations in pendrin, a plasma membrane transporter, lead to Pendred syndrome, which is associated with hearing loss. Here, Jung et al. show that cell-surface expression of a mutated form of pendrin can be restored by blocking ER-to-Golgi traffic and ...
Jinsei Jung +7 more
doaj +1 more source
Endocrine glands and hearing: Auditory manifestations of various endocrine and metabolic conditions
Indian Journal of Endocrinology and Metabolism, 2017 The aetiology of hearing loss in humans is multifactorial. Besides genetic, environmental and infectious causes, several endocrine and metabolic abnormalities are associated with varying degrees of hearing impairment.
Kripa Elizabeth Cherian +3 more
doaj +1 more source
Comprehensive analysis of syndromic hearing loss patients in Japan
Scientific Reports, 2019 More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by ...
Michie Ideura +40 more
doaj +1 more source
Frontiers in Genetics, 2018 Pendred syndrome (PS) is an autosomal recessive disorder due to mutations in the SLC26A4 gene (chr7q22. 3) and characterized by sensorineural hearing loss and variable thyroid phenotype.
Valentina Cirello +17 more
doaj +1 more source
RETROSPECTIVE ANALYSIS OF DYSHORMONGENETIC GOITRE [PDF]
, 2012 Dyshormonogenetic goitre is a rare thyroid entity which occurs due to enzymatic deficiency in the physiological process of thyroxin synthesis resulting in goitre formation. This has to be differentiated from iodine deficiency goitres for their similarity
Maharajan, Chandrasekaran +1 more
core +1 more source
Treating Hearing Loss: From Cochlear Implantation to Gene Therapy
Advanced Science, Volume 12, Issue 41, November 6, 2025.Cochlear implantation is the primary treatment for deafness, restoring functional hearing in over a million people. Recently, gene therapy has enabled biological hearing restoration in a small number of patients with OTOF‐related mutations. This perspective evaluates both approaches, concluding that cochlear implants will remain the standard for most ...
Fan‐Gang Zeng +4 more
wiley +1 more source
Annals of Indian Academy of Neurology, 2014 Two adult men presented with the rare Hoffmann′s syndrome (HS). Case 1: A 35-year-old male patient had progressive stiffness of lower limbs of 13 years and generalized muscle hypertrophy and myalgia of 3 years duration.
Atchayaram Nalini +3 more
doaj +1 more source