[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 …
[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 …
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 …
Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression
P Wangemann, HM Kim, S Billings… - American Journal …, 2009 - journals.physiology.org
Mutations of SLC26A4 cause an enlarged vestibular aqueduct, nonsyndromic deafness, and
deafness as part of Pendred syndrome. SLC26A4 encodes pendrin, an anion exchanger …
deafness as part of Pendred syndrome. SLC26A4 encodes pendrin, an anion exchanger …
SLC26A4 Targeted to the Endolymphatic Sac Rescues Hearing and Balance in Slc26a4 Mutant Mice
Mutations of SLC26A4 are a common cause of human hearing loss associated with
enlargement of the vestibular aqueduct. SLC26A4 encodes pendrin, an anion exchanger …
enlargement of the vestibular aqueduct. SLC26A4 encodes pendrin, an anion exchanger …
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 …
Epithelial cell stretching and luminal acidification lead to a retarded development of stria vascularis and deafness in mice lacking pendrin
HM Kim, P Wangemann - PloS one, 2011 - journals.plos.org
Loss-of-function mutations of SLC26A4/pendrin are among the most prevalent causes of
deafness. Deafness and vestibular dysfunction in the corresponding mouse model …
deafness. Deafness and vestibular dysfunction in the corresponding mouse model …
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 …
Hypo‐Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype‐phenotype correlation or …
BY Choi, AK Stewart, AC Madeo, SP Pryor… - Human …, 2009 - Wiley Online Library
Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with
mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl−/I−/HCO …
mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl−/I−/HCO …