Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran
M Koohiyan, M Hashemzadeh-Chaleshtori… - Intractable & Rare …, 2021 - jstage.jst.go.jp
The SLC26A4 gene has been described as the second gene involved in most cases of
autosomal recessive non-syndromic hearing loss (ARNSHL), after GJB2. Over 500 different …
autosomal recessive non-syndromic hearing loss (ARNSHL), after GJB2. Over 500 different …
Loss of cochlear HCO3− secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model
P Wangemann, K Nakaya, T Wu… - American Journal …, 2007 - journals.physiology.org
Pendred syndrome, characterized by childhood deafness and postpuberty goiter, is caused
by mutations of SLC26A4, which codes for the anion exchanger pendrin. The goal of the …
by mutations of SLC26A4, which codes for the anion exchanger pendrin. The goal of the …
Pendrin Function and Regulation in Xenopus Oocytes
FR Reimold, JF Heneghan, AK Stewart… - Cellular Physiology and …, 2011 - karger.com
Abstract SLC26A4/PDS mutations cause Pendred Syndrome and non-syndromic deafness.
but some aspects of function and regulation of the SLC26A4 polypeptide gene product …
but some aspects of function and regulation of the SLC26A4 polypeptide gene product …
Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts
A Nakano, Y Arimoto, H Mutai, K Nara, S Inoue… - International Journal of …, 2022 - Elsevier
Objectives To evaluate the clinical and genetic features of children with hearing loss
associated with one of the most common malformations of the inner ear: bilateral …
associated with one of the most common malformations of the inner ear: bilateral …
Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern …
VY Danilchenko, MV Zytsar, EA Maslova… - Genes, 2023 - mdpi.com
Pathogenic variants in the SLC26A4 gene leading to nonsyndromic recessive deafness
(DFNB4), or Pendred syndrome, are some of the most common causes of hearing loss …
(DFNB4), or Pendred syndrome, are some of the most common causes of hearing loss …
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 …
[HTML][HTML] Pendred syndrome
S Ejaz - 2019 - europepmc.org
Objectives: Describe the mutations associated with Pendred syndrome. Review the
presentation of Pendred syndrome. Summarize the workup of a patient with Pendred …
presentation of Pendred syndrome. Summarize the workup of a patient with Pendred …
The ESF Meeting on „The Proteomics, Epigenetics and Pharmacogenetics of Pendrin “
Abstract Human pendrin (SCL26A4, PDS) is a 780 amino acid integral membrane protein
with transport function. It acts as an electroneutral, sodium-independent anion exchanger for …
with transport function. It acts as an electroneutral, sodium-independent anion exchanger for …
[HTML][HTML] Pendred Syndrome
LG Diramerian, S Ejaz - StatPearls [Internet], 2023 - ncbi.nlm.nih.gov
Objectives: Describe the mutations associated with Pendred syndrome. Review the
presentation of Pendred syndrome. Summarize the workup of a patient with Pendred …
presentation of Pendred syndrome. Summarize the workup of a patient with Pendred …
DOCA sensitive pendrin expression in kidney, heart, lung and thyroid tissues
Abstract Background/Aims: Pendrin (SLC26A4), a transporter accomplishing anion
exchange, is expressed in inner ear, thyroid gland, kidneys, lung, liver and heart. Loss or …
exchange, is expressed in inner ear, thyroid gland, kidneys, lung, liver and heart. Loss or …