Results 101 to 110 of about 8,863 (195)
Mouse Models for Pendrin-Associated Loss of Cochlear and Vestibular Function
Cellular Physiology and Biochemistry, 2013 The human gene SLC26A4 and the mouse ortholog Slc26a4 code for the protein pendrin, which is an anion exchanger expressed in apical membranes of selected epithelia.
Philine Wangemann
doaj +1 more source
Unilateral enlarged vestibular aqueduct syndrome and bilateral endolymphatic hydrops [PDF]
, 2017 Enlarged vestibular aqueduct (EVA) syndrome is a common congenital inner ear malformation characterized by a vestibular aqueduct with a diameter larger than 1.5 mm, mixed or sensorineural hearing loss that ranges from mild to profound, and vestibular ...
NOLA, GIUSEPPE +3 more
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Update on Gene Therapy in the Treatment of Hereditary Hearing Loss
Sensory Neuroscience, Volume 1, Issue 2, September 2025.Gene therapy is a promising therapeutic approach for genetic disorders, including three major gene therapy strategies: gene replacement, gene suppression, and gene editing. After transmitting genes to the inner ear through appropriate pathways, repair the cochlea in order to achieve the goal of treating hereditary hearing loss.
Weiwei He +7 more
wiley +1 more source
Emerging Therapeutic Strategies for Hearing Loss
Advanced Therapeutics, Volume 8, Issue 7, July 2025.Challenges still exist in treating hearing loss in cases of severe damage to hair cells or spiral ganglion neurons. Here, a schematic diagram of cochlear sensory hair cells and auditory nerves is presented. It is found that in normal Corti organs, hair cells have upright stereocilia at the top and auditory neurons at the base. Ototoxic drugs, noise, or
Shanying Han +9 more
wiley +1 more source
Measurements of endolymphatic K⁺ concentrations in the utricle of pre- and postnatal Slc26a4 Δ/+ and Slc26a4 Δ/Δ mice [PDF]
Master of ScienceDepartment of Anatomy and PhysiologyA. Philine WangemannSLC26A4 and its murine ortholog Slc26a4 code for pendrin, an anion-exchanger that is expressed in the inner ear.
Zhou, Fei
core
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1 [PDF]
, 2018 Maintenance of the composition of inner ear fluid and regulation of electrolytes and acid-base homeostasis in the collecting duct system of the kidney require an overlapping set of membrane transport proteins regulated by the forkhead transcription ...
Alkanderi, S +17 more
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Pärilik ehk geneetiline kuulmislangus [PDF]
, 2007 Kuulmislangus on kõige enam levinud sensoorne haigus kogu maailmas. Varajase ehk kõne-eelse kuulmislanguse esinemissagedus arvatakse olevat 1–2 juhtu 1000 lapse kohta ning pooltel juhtudest on see pärilik. Geneetiline kuulmislangus jagatakse sündroomseks
Joost, Kairit +6 more
core +2 more sources
Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss [PDF]
, 2011 Background: Hearing loss (HL) is the most frequent sensory birth defect in humans. Autosomal recessive non-syndromic HL (ARNSHL) is the most common type of hereditary HL. It is extremely heterogeneous and over 70 loci (known as DFNB) have been identified.
Alasti, Fatemeh. +8 more
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Alzheimer's &Dementia, Volume 21, Issue 7, July 2025.Abstract INTRODUCTION Cardiometabolic risks affect cognition during aging, yet genetic basis for both remain understudied in Indians. METHODS This study constructs an ancestry‐matched Indian haplotype reference panel for genotype imputation of 5111 rural Indians. Single‐locus, gene‐based, conditional genome‐wide association analyses are performed on 20
Shreya Chakraborty +10 more
wiley +1 more source
連鎖解析と全エキソン配列決定による家族性甲状腺腫に関連する新規遺伝子の同定 [PDF]
, 2014 京都大学0048新制・課程博士博士(医学)甲第18142号医博第3862号新制||医||1002(附属図書館)31000京都大学大学院医学研究科医学専攻(主査)教授 山田 亮, 教授 小杉 眞司, 教授 松田 文彦学位規則第4条第1項該当Doctor of Medical ScienceKyoto ...
Yan, Junxia
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