Results 61 to 70 of about 514 (125)
Iranian Journal of Public Health, 2017 Background: Autosomal recessive non-syndromic hearing loss (ARNSHL) a most frequent hereditary type of hearing impairment, exhibit tremendous genetic heterogeneity.
Marzieh NASERI +7 more
doaj
Increased airway surface liquid and decreased mucin expression in pendrin-deficient human airway epithelia [PDF]
, 2015 의과대학/박사Pendrin is an anion exchanger whose mutations are known to cause hearing loss. However, recent data support the linkage between pendrin expression and airway diseases, such as asthma. To evaluate the role of pendrin in the regulation of the airway
이현재
core
Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report [PDF]
, 2020 Sensorineural hearing loss is a heterogeneous disease caused by mutations in many genes. However, in the presence of enlarged vestibular aqueduct, it is frequently associated with mutations in the solute carrier family 26 member 4 (SLC26A4), a gene ...
Monzillo C. +7 more
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Contribution of GJB2 mutations and Four common DFNB loci in autosomal recessive non-syndromic hearing impairment in Markazi and Qom provinces of Iran [PDF]
, 2009 This study aimed to investigate the contribution of four common DFNB ("DFN" for deafness and "B" for autosomal resessive locus) loci and GJB2 gene mutations (exon 2) in hearing impairment in individuals living in Markazi and Qom provinces of Iran.
Sanati, Mohammad Hossein. +5 more
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, 2013 INTRODUCTION: Mutations in PDS (or SLC26A4) cause both Pendred syndrome (PS) and DFNB4, two autosomal recessive disorders that share hearing loss as a common feature.
김주원 +3 more
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, 2021 The SLC26A4 gene has been described as the second gene involved in most cases of autosomal recessive non-syndromic hearing loss (ARNSHL), after GJB2.
Koohiyan, Mahbobeh +2 more
core +1 more source
Journal of Rehabilitation, 2005 The incidence of profound congenital hearing loss is about 1 in 1,000 live birth. There are more than 50 distinct genetic loci (known as DFNB loci) at which mutations can cause recessive hearing loss. DFNB4, one recessive locus for deafness, also maps to
Hossein Najm-Abadi +5 more
doaj
Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome [PDF]
, 2013 Objectives. The aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing lots, information about the gene mutations can be beneficial in molecular detection and ...
Noormohammadi, Zahra. +7 more
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Molecular studies in autosomal recessive deafness: the role of SLC26A4 gene.
, 2013 Mutações no gene SLC26A4 estão relacionadas a dois distúrbios de herança autossômica recessiva, a síndrome de Pendred (SP) e uma forma de surdez não sindrômica (DFNB4).
Nonose, Renata Watanabe +1 more
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Hereditary deafness carrier screening in 9,993 Chinese individuals. [PDF]
Front Genet, 2023 Liu Y +7 more
europepmc +1 more source