Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Natrium-Jod-Kotransporter

Das SLC5A5-Gen kodiert einen wichtigen Transporter für Jod der insbesondere in der Schilddrüse und in den Milchdrüsen exprimiert wird. Mutationen führen zu gestörter Schilddrüsenhormonproduktion mit Strumabildung, der autosomal rezessiven Thyroiddyshormonogenesis 1.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Thyroiddyshormonogenesis 1
SLC5A5

Referenzen:

1.

Lazar V et. al. (1999) Expression of the Na+/I- symporter gene in human thyroid tumors: a comparison study with other thyroid-specific genes.

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2.

Albero R et. al. (1987) Congenital hypothyroidism from complete iodide transport defect: long-term evolution with iodide treatment.

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3.

Couch RM et. al. (1985) Congenital hypothyroidism caused by defective iodide transport.

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4.

Dai G et. al. (1996) Cloning and characterization of the thyroid iodide transporter.

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5.

Smanik PA et. al. (1996) Cloning of the human sodium lodide symporter.

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6.

Fujiwara H et. al. (1997) Congenital hypothyroidism caused by a mutation in the Na+/I- symporter.

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7.

Smanik PA et. al. (1997) Expression, exon-intron organization, and chromosome mapping of the human sodium iodide symporter.

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8.

Pohlenz J et. al. (1997) Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene.

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9.

Matsuda A et. al. (1997) A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect.

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10.

Pohlenz J et. al. (1998) Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.

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11.

Ohmori M et. al. (1998) A novel thyroid transcription factor is essential for thyrotropin-induced up-regulation of Na+/I- symporter gene expression.

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12.

Levy O et. al. (1998) Identification of a structural requirement for thyroid Na+/I- symporter (NIS) function from analysis of a mutation that causes human congenital hypothyroidism.

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13.

Arturi F et. al. (1998) Iodide symporter gene expression in human thyroid tumors.

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14.

Fujiwara H et. al. (1998) Recurrent T354P mutation of the Na+/I- symporter in patients with iodide transport defect.

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15.

Kosugi S et. al. (1998) Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.

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16.

Kosugi S et. al. (1998) High prevalence of T354P sodium/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures.

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17.

Venkataraman GM et. al. (1999) Restoration of iodide uptake in dedifferentiated thyroid carcinoma: relationship to human Na+/I-symporter gene methylation status.

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18.

Kosugi S et. al. (1999) A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect.

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19.

Spitzweg C et. al. (1999) Analysis of human sodium iodide symporter immunoreactivity in human exocrine glands.

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20.

Caturegli P et. al. (2000) Hypothyroidism in transgenic mice expressing IFN-gamma in the thyroid.

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21.

Cho JY et. al. (2000) Hormonal regulation of radioiodide uptake activity and Na+/I- symporter expression in mammary glands.

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22.

Kosugi S et. al. (2002) A novel peculiar mutation in the sodium/iodide symporter gene in spanish siblings with iodide transport defect.

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23.

Fortunati N et. al. (2004) Valproic acid induces the expression of the Na+/I- symporter and iodine uptake in poorly differentiated thyroid cancer cells.

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24.

Dohán O et. al. (2007) The Na+/I symporter (NIS) mediates electroneutral active transport of the environmental pollutant perchlorate.

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