Results 111 to 120 of about 3,909 (203)
Genotyping Data and Novel Haplotype Diversity of STR Markers in the SLC26A4 Gene Region in Five Ethnic Groups of the Iranian Population [PDF]
, 2014 Background and Aims: SLC26A4 gene mutations are the second currently identifiable genetic cause of autosomal recessive nonsyndromic hearing loss after GJB2 mutations.
Hashemzadeh-Chaleshtori, Morteza. +3 more
core +1 more source
A Role for Iodide and Thyroglobulin in Modulating the Function of Human Immune Cells
Frontiers in Immunology, 2017 Iodine is an essential element required for the function of all organ systems. Although the importance of iodine in thyroid hormone synthesis and reproduction is well known, its direct effects on the immune system are elusive.
Mahmood Y. Bilal +9 more
doaj +1 more source
Autoimmune Thyroiditis in Childhood [PDF]
, 2013 Autoimmune thyroiditis (AIT) is the most common thyroid disorder in the pediatric age range. The disease results from an as yet poorly characterized defect or defects in immunoregulation and a cascade of events progressing from lymphocyte infiltration of
Brown, Rosalind
core +1 more source
Cellular Physiology and Biochemistry, 2013 Ion transporters are the molecular basis for ion homeostasis of the cell and the whole organism. The anion exchanger pendrin is only one of a number of examples where a complete or partial loss of function and/or deregulation of expression of ion ...
Silvia Dossena +4 more
doaj +1 more source
Regulated acid-base transport in the collecting duct [PDF]
, 2018 The renal collecting system serves the fine-tuning of renal acid-base secretion. Acid-secretory type-A intercalated cells secrete protons via a luminally expressed V-type H+-ATPase and generate new bicarbonate released by basolateral chloride/bicarbonate
Bourgeois, Soline +3 more
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Episodic and electrical nervous system disorders caused by nonchannel genes. [PDF]
, 2015 As noted in the separate introduction to this special topic section, episodic and electrical disorders can appear quite different clinically and yet share many overlapping features, including attack precipitants, therapeutic responses, natural history ...
Fu, Ying-Hui +2 more
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Pendrin function and regulation in Xenopus oocytes.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology, 2012 SLC26A4/PDS mutations cause Pendred Syndrome and non-syndromic deafness. but some aspects of function and regulation of the SLC26A4 polypeptide gene product, pendrin, remain controversial or incompletely understood. We have therefore extended the functional analysis of wildtype and mutant pendrin in Xenopus oocytes, with studies of isotopic flux ...
Fabian R, Reimold +6 more
openaire +2 more sources
The emerging role of pendrin in renal chloride reabsorption [PDF]
American Journal of Physiology-Renal Physiology, 2007 renal reabsorption of sodium and chloride is tightly linked in most segments, often occurring even through the same transport proteins such as the Na-K-2Cl− cotransporter NKCC2 or the Na-Cl cotransporter NCC in the thick ascending limb or the distal tubule, respectively ([1][1], [6][2]).
openaire +3 more sources
Measurements of endolymphatic K⁺ concentrations in the utricle of pre- and postnatal Slc26a4 Δ/+ and Slc26a4 Δ/Δ mice [PDF]
Master of ScienceDepartment of Anatomy and PhysiologyA. Philine WangemannSLC26A4 and its murine ortholog Slc26a4 code for pendrin, an anion-exchanger that is expressed in the inner ear.
Zhou, Fei
core
PLoS ONE, 2012 BackgroundMutations in SLC26A4, which encodes pendrin, are a common cause of deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic enlarged vestibular aqueduct (EVA).
Yongyi Yuan +9 more
doaj +1 more source