Results 51 to 60 of about 3,909 (203)
Cellular Physiology and Biochemistry, 2013 Background: Human pendrin (SLC26A4, PDS) is an integral membrane protein acting as an electroneutral anion exchanger. Loss of function mutations in pendrin protein cause Pendred syndrome, a disorder characterized by sensorineural deafness and a partial ...
Grazia Tamma +7 more
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TMED3 Complex Mediates ER Stress‐Associated Secretion of CFTR, Pendrin, and SARS‐CoV‐2 Spike
Advanced Science, 2022 Under ER stress conditions, the ER form of transmembrane proteins can reach the plasma membrane via a Golgi‐independent unconventional protein secretion (UPS) pathway. However, the targeting mechanisms of membrane proteins for UPS are unknown. Here, this
Hak Park +15 more
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The effect of smoking on placental pendrin expression*
Journal of Obstetrics and Gynaecology, 2016 Pendrin is important for transport of iodine across the placenta. Thiocyanate coming from cigarette is a competitive inhibitor of iodine transport. We aimed to evaluate the pendrin immunostaining intensity in placentas of smoker and non-smoker women.
Karataş, Ahmet +4 more
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Mouse Models for Pendrin-Associated Loss of Cochlear and Vestibular Function
Cellular Physiology and Biochemistry, 2013 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.
Philine Wangemann
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Developmental changes of ENaC expression and function in the inner ear of pendrin knock-out mice as a perspective on the development of endolymphatic hydrops. [PDF]
PLoS ONE, 2014 Pendrin mutations cause enlarged vestibular aqueducts and various degrees of sensorineural hearing loss. The selective abolition of pendrin causes dilation of the membranous labyrinth known as endolymphatic hydrops, loss of the endocochlear potential ...
Bo Gyung Kim +6 more
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Síndrome de Pendred causada por mutação em homozigoze no gene SLC26A4 em uma família brasileira consangüínea [PDF]
, 2008 Pendred Syndrome (PS) is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. The hearing loss is associated with inner ear abnormalities, ranging from an isolated enlarged vestibular aqueduct
Bahmad Júnior, Fayez +12 more
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Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts [PDF]
, 2013 Pendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia.
Bitner-Glindzicz, M +4 more
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Acta Physiologica, Volume 242, Issue 3, March 2026.ABSTRACT Aim Biallelic inactivating WDR72 variants are linked to distal renal tubular acidosis (dRTA), nephrocalcinosis, and amelogenesis imperfecta. The kidney shows high WDR72 expression; its precise localization and function remain unclear. WDR72 is a member of the WD40 repeat domain protein family—a large group of scaffold proteins involved in ...
Hannah Auwerx +4 more
wiley +1 more source
Pendrin, a Novel Transcriptional Target of the Uroguanylin System
Cellular Physiology and Biochemistry, 2013 Guanylin (GN) and uroguanylin (UGN) are low-molecular-weight peptide hormones produced mainly in the intestinal mucosa in response to oral salt load. GN and UGN (guanylin peptides) induce secretion of electrolytes and water in both intestine and kidney ...
Julia Rozenfeld +7 more
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Frontiers in Pediatrics, 2023 The SLC26A4 gene encodes the transmembrane protein pendrin, which is involved in the ion transport of chloride (Cl-), iodide (I-) or bicarbonate (HCO3-).
Kang Zhu, Yingkang Jin
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