(Q27023500)

Peter Kopp

series ordinal

2

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language of work or name

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2011

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Cellular Physiology and Biochemistry

published in

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volume

28

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page(s)

485-90

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issue

3

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A family of mammalian anion transporters and their involvement in human genetic diseases

cites work

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Genetics and phenomics of Pendred syndrome

21 January 2018

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Association of congenital deafness with goitre; the nature of the thyroid defect.

21 January 2018

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Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

21 January 2018

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The Pendred syndrome gene encodes a chloride-iodide transport protein

21 January 2018

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The sodium/iodide Symporter (NIS): characterization, regulation, and medical significance

21 January 2018

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Iodide handling by the thyroid epithelial cell

21 January 2018

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Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion

21 January 2018

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Mutations in the iodotyrosine deiodinase gene and hypothyroidism

21 January 2018

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EVALUATION AND LIMITATIONS OF THE PERCHLORATE TEST IN THE STUDY OF THYROID FUNCTION.

21 January 2018

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Genetics of congenital hypothyroidism

21 January 2018

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Genetics and phenomics of hypothyroidism and goiter due to TPO mutations

21 January 2018

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Pendred syndrome--100 years of underascertainment?

21 January 2018

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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

21 January 2018

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SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

21 January 2018

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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?

21 January 2018

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Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese

21 January 2018

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ASSOCIATION OF CONGENITAL DEAFNESS WITH GOITRE (PENDRED'S SYNDROME) A STUDY OF 207 FAMILIES.

21 January 2018

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Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage

21 January 2018

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Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene

21 January 2018

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Clinical and molecular analysis of three Mexican families with Pendred's syndrome

21 January 2018

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Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans

21 January 2018

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Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

21 January 2018

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Concurrence of Pendred syndrome, autoimmune thyroiditis, and simple goiter in one family.

21 January 2018

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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

21 January 2018

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Functional characterization of pendrin in a polarized cell system. Evidence for pendrin-mediated apical iodide efflux

21 January 2018

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Mechanism of iodide/chloride exchange by pendrin.

21 January 2018

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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.

21 January 2018

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Pendrin is a novel in vivo downstream target gene of the TTF-1/Nkx-2.1 homeodomain transcription factor in differentiated thyroid cells

21 January 2018

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PKC-epsilon-dependent cytosol-to-membrane translocation of pendrin in rat thyroid PC Cl3 cells

21 January 2018

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Analysis of cellular localization and function of carboxy-terminal mutants of pendrin

21 January 2018

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Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome

21 January 2018

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Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

21 January 2018

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Fast fluorometric method for measuring pendrin (SLC26A4) Cl-/I- transport activity

21 January 2018

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Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome

21 January 2018

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Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function

21 January 2018

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Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.

21 January 2018

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Failure of fluid absorption in the endolymphatic sac initiates cochlear enlargement that leads to deafness in mice lacking pendrin expression

21 January 2018

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Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation

21 January 2018

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Influence of dietary iodine deficiency on the thyroid gland in Slc26a4-null mutant mice.

21 January 2018

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Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear

21 January 2018

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Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion

21 January 2018

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Identification and Characterization of a Putative Human Iodide Transporter Located at the Apical Membrane of Thyrocytes

21 January 2018

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Na(+)/monocarboxylate transport (SMCT) protein expression correlates with survival in colon cancer: molecular characterization of SMCT

21 January 2018

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The loss of the chloride channel, ClC-5, delays apical iodide efflux and induces a euthyroid goiter in the mouse thyroid gland

21 January 2018

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A coherent organization of differentiation proteins is required to maintain an appropriate thyroid function in the Pendred thyroid

21 January 2018

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Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression

21 January 2018

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