The Study of SLC26A4 Gene Causing Autosomal Recessive Hearing Loss by Linkage Analysis in a Cohort of Iranian Populations. [PDF]
, 2014 Sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. Hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date.
Sanati, Mohammad Hossein. +9 more
core +1 more source
FEBS Letters, Volume 600, Issue 2, Page 215-225, January 2026.Anaplastic thyroid cancer (ATC) lacks iodide uptake ability due to MAPK activation increasing the expression of the histone methyltransferase EZH2, which represses thyroid differentiation genes (TDGs) such as the sodium iodide symporter (NIS). Dual inhibition of MAPK (U0126) and EZH2 (EPZ6438/Tazemetostat) reverses this mechanism, thus restoring TDG ...
Diego Claro de Mello +6 more
wiley +1 more source
Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.
, 2014 OBJECTIVES/HYPOTHESIS: Enlarged vestibular aqueduct (EVA) and hearing loss are known to be caused by SLC26A4 mutations, but large phenotypic variability exists among patients with biallelic SLC26A4 mutations.
이경아, 최재영
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Gene therapy for hereditary hearing loss by SLC26A4 mutations in mice reveals distinct functional roles of pendrin in normal hearing [PDF]
, 2019 Rationale: Mutations of SLC26A4 that abrogate pendrin, expressed in endolymphatic sac, cochlea and vestibule, are known to cause autosomal recessive sensorineural hearing loss with enlargement of the membranous labyrinth.
정진세 +3 more
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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
Background/Aims: The prevalence of rectal cancer is increasing every year due to changes in living and eating habits. Early diagnosis contributes to the treatment and survival of patients.
Mei Pu +5 more
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SLC26A4 mutations are associated with a specific inner ear malformation
, 2007 Inner ear anomalies have been reported in approximately 30% of children with early onset deafness. Identification of causative genetic factors in a large proportion of these patients was not successful. Mutations in the SLC26A4 gene have been detected in
FİTOZ, ÖMER SUAT +6 more
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Analysis of deafness gene screening results in 15771 newborn cases in Anyang city of Henan
Frontiers in PediatricsObjectiveTo analyze the prevalence and mutation spectrum of deafness-associated genes among newborns in Anyang City.MethodsHeel blood samples were collected from 15,771 newborns.
Yanchao Mu +10 more
doaj +1 more source
Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis [PDF]
, 2010 Recent genetic studies have led to identification of numerous loci that are associated with susceptibility to autoimmune diseases. The strategy of using information from these studies has facilitated the identification of novel juvenile idiopathic ...
S Eyre +21 more
core +1 more source
OTOF Gene Therapy: From Breakthroughs to Roadmaps
MedComm, Volume 7, Issue 3, March 2026.
Qiuju Wang +2 more
wiley +1 more source