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注意：仅列出部分参考文献，下载原文获取全部文献信息。Molecular and Functional Characterization of Human Pendrin and its Allelic Variants
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Congenital goitrous hypothyroidism, deafness and Iodide organification defect in four siblings: Pendred or pseudo-pendred syndrome?
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Hypo-Functional SLC26A4 Variants Associated with Nonsyndromic Hearing Loss and Enlargement of the Vestibular Aqueduct: Genotype-Phenotype Correlation or Coincidental Polymorphisms?
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The Slc26a4 transporter functions as an electroneutral Cl-/I-/HCO3- exchanger:: role of Slc26a4 and Slc26a6 in I- and HCO3- secretion and in regulation of CFTR in the parotid duct
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Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA
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Reduced ENaC protein abundance contributes to the lower blood pressure observed in pendrin-null mice
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Loss of cochlear HCO(3)over-bar secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model
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Lack of pendrin HCO(3)over-bar transport elevates vestibular endolymphatic [Ca2+] by inhibition of acid-sensitive TRPV5 and TRPV6 channels
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Angiotensin II increases chloride absorption in the cortical collecting duct in mice through a pendrin-dependent mechanism
Vladimir Pech et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2007)
Transcriptional control of SLC26A4 is involved in pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)
Tao Yang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes
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SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
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EUROPEAN JOURNAL OF HUMAN GENETICS (2006)
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SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA):: evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities
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Functional characterization of pendrin in a polarized cell system - Evidence for pendrin-mediated apical iodide efflux
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
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Pendrin is an iodide-specific apical porter responsible for iodide efflux from thyroid cells
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JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2002)
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux:: Implications for thyroid dysfunction in pendred syndrome
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JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2002)
Differential diagnosis between Pendred and pseudo-Pendred syndromes:: Clinical, radiologic, and molecular studies
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PEDIATRIC RESEARCH (2002)
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FEBS LETTERS (2001)
Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome
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JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2000)
Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells
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