Results 61 to 70 of about 7,994 (153)
Abstract Prestin, a member of the SLC26A family, is essential for the electromotility of mammalian outer hair cells, converting voltage changes into mechanical work. In contrast, nonmammalian orthologues function as anion transporters. To investigate the molecular and structural basis of this functional divergence, we performed ancestral sequence ...
Nicolás Fuentes‐Ugarte +6 more
wiley +1 more source
Connexin 26 expression in the cochlea of Slc26a4+/− and Slc26a4−/− mice at E14.5 and E16.5.
Connexin 26 (red) was visualized by immunocytochemistry. F-actin (green) and nuclei (blue) were labeled. A–B: Cross-sections of the basal turn of the cochlea from Slc26a4+/− and Slc26a4−/− mice at age E14.5.
Hyoung-Mi Kim (237178) +1 more
core +1 more source
The kidney and the balance of sulfur and nitrogen as fundamental components of pH homeostasis
Biochemical processes involved in ammoniagenesis and regulation of pH homeostasis. Abstract The homeostasis of blood and tissue pH is fundamental for life, and pH imbalances may lead to coma and death. The regulation of the acid–base balance involves primarily the lungs and kidneys, and is strictly integrated via the endocrine and nervous systems ...
Vincenzo Graziano +3 more
wiley +1 more source
Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene.
Single Nucleotide Polymorphisms (SNPs) are the most common candidate mutations in human beings that play a vital role in the genetic basis of certain diseases.
Mirza Jawad Ul Hasnain +8 more
doaj +1 more source
Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss [PDF]
Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of sensorineural hearing loss disorders that typically result from biallelic mutations of the SLC26A4 gene. Although PDS and DFNB4 are recessively inherited, sequencing of the coding regions
Lynn M. Pique +5 more
doaj +2 more sources
Substrate for Thyroid Hormone Synthesis: Biochemistry, Evolution, and Physiology
Two proposed sequence of events for thyroxine formation in patients expressing mutant thyroglobulin. (A) (1) TSH stimulation drives expression of misfolded TG. (2) Unremitting ER stress. (3) Stress‐induced cell death. (4) Dead thyrocytes release their contents. (5) The contents become iodinated. (6) Forming thyroxine.
Crystal Young, Peter Arvan
wiley +1 more source
International audienceObjective: To investigate the implication of SLC26A4, FOXI and KCNJ10 genes in unilateral hearing impairment associated with ipsilateral inner ear malformation (Enlargement of the vestibular aqueduct and/or Mondini dysplasia ...
Catherine Calais +49 more
core +1 more source
Sensorineural hearing loss (SNHL) occurs in 1.5 billion globally, primary driven by damage of cochlear hair cells and spiral ganglion neurons. This review systematically examines current therapeutic strategies for sensorineural hearing loss, including traditional drug and physical therapies as well as emerging stem cell and gene therapies, providing a ...
Ruirui Chen +3 more
wiley +1 more source
Mouse Models for Pendrin-Associated Loss of Cochlear and Vestibular Function
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
doaj +1 more source
Absence of primary hypothyroidism and goiter in Slc26a4(-/-) mice fed on a low iodine diet
Background: Mutations in the SLC26A4 gene, coding for the anion transporter pendrin, are responsible for Pendred syndrome, characterized by congenital sensorineural deafness and dyshormonogenic goiter.
A. Grindati +9 more
core +1 more source

