Results 91 to 100 of about 7,226 (202)
Macrophage invasion contributes to degeneration of stria vascularis in Pendred syndrome mouse model
BMC Medicine, 2006 Background Pendred syndrome, an autosomal-recessive disorder characterized by deafness and goiter, is caused by a mutation of SLC26A4, which codes for the anion exchanger pendrin.
Everett Lorraine A +8 more
doaj +1 more source
SLC26A4 correlates with homologous recombination deficiency and patient prognosis in prostate cancer
Journal of Translational Medicine, 2022 Background Homologous recombination deficiency (HRD) is closely associated with patient prognosis and treatment options in prostate cancer (PCa).
Cong Luo +7 more
doaj +1 more source
Advanced Science, Volume 12, Issue 33, September 4, 2025.Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu +7 more
wiley +1 more source
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
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
core +1 more source
MedComm, Volume 6, Issue 9, September 2025.The intended aims and benefits of the CABP2 Patient Registry. ABSTRACT CABP2 modulates presynaptic CaV1.3 Ca2+ channel function in inner hair cells (IHCs) and is required for indefatigable synaptic sound encoding. Biallelic variants in CABP2 are associated with non‐syndromic hearing loss (DFNB93).
Barbara Vona +4 more
wiley +1 more source
BMC Medical Genetics, 2020 Background Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene.
Eva Lindberg +4 more
doaj +1 more source
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
core +3 more sources
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
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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