Mouse models reveal the role of pendrin in the inner ear
P Wangemann, AJ Griffith - The Role of Pendrin in Health and Disease …, 2017 - Springer
Abstract In 1896, Vaughan Pendred, MD, wrote a case report about two siblings that
presented with hearing loss and goiter. This initial report was followed over the next 100 …
presented with hearing loss and goiter. This initial report was followed over the next 100 …
[HTML][HTML] Mouse models for pendrin-associated loss of cochlear and vestibular function
P Wangemann - Cellular Physiology and Biochemistry, 2013 - karger.com
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. In the …
which is an anion exchanger expressed in apical membranes of selected epithelia. In the …
The role of pendrin in the development of the murine inner ear
P Wangemann - Cellular Physiology and Biochemistry, 2011 - karger.com
Enlargement of the vestibular aqueduct (EVA) is a common inner ear malformation found in
children with sensorineural hearing loss that is frequently associated with loss-of-function or …
children with sensorineural hearing loss that is frequently associated with loss-of-function or …
Pendrin-Linked Deafness in Humans
S Roesch, M Tóth, G Rasp - The Role of Pendrin in Health and Disease …, 2017 - Springer
Hearing loss is a well-known clinical sign in the context of pendrin malfunction. Pendred
syndrome (PS) and nonsyndromic hearing loss (DFNB4) with enlarged vestibular aqueduct …
syndrome (PS) and nonsyndromic hearing loss (DFNB4) with enlarged vestibular aqueduct …
[HTML][HTML] Gene therapy for hereditary hearing loss by SLC26A4 mutations in mice reveals distinct functional roles of pendrin in normal hearing
MA Kim, SH Kim, N Ryu, JH Ma, YR Kim, J Jung… - Theranostics, 2019 - ncbi.nlm.nih.gov
Abstract Rationale: Mutations of SLC26A4 that abrogate pendrin, expressed in
endolymphatic sac, cochlea and vestibule, are known to cause autosomal recessive …
endolymphatic sac, cochlea and vestibule, are known to cause autosomal recessive …
Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.
S Dossena, S Rodighiero, V Vezzoli… - Journal of molecular …, 2009 - europepmc.org
Pendred syndrome (PS) is the most frequent form of genetically related syndromic hearing
loss, and is associated with mutations of pendrin, encoded by the SLC26A4 gene. This …
loss, and is associated with mutations of pendrin, encoded by the SLC26A4 gene. This …
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct …
hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct …
Integration of human and mouse genetics reveals pendrin function in hearing and deafness
AA Dror, Z Brownstein, KB Avraham - Cellular Physiology and …, 2011 - karger.com
Genomic technology has completely changed the way in which we are able to diagnose
human genetic mutations. Genomic techniques such as the polymerase chain reaction …
human genetic mutations. Genomic techniques such as the polymerase chain reaction …
Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear
LA Everett, H Morsli, DK Wu… - Proceedings of the …, 1999 - National Acad Sciences
Pendred's syndrome is an autosomal-recessive disorder characterized by deafness and
goiter. After our recent identification of the human gene mutated in Pendred's syndrome …
goiter. After our recent identification of the human gene mutated in Pendred's syndrome …
Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition
Mutations in human SLC26A4 are a common cause of hearing loss associated with
enlarged vestibular aqueducts (EVA). SLC26A4 encodes pendrin, an anion-base exchanger …
enlarged vestibular aqueducts (EVA). SLC26A4 encodes pendrin, an anion-base exchanger …