These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 9745458)

  • 1. Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.
    Kosugi S; Inoue S; Matsuda A; Jhiang SM
    J Clin Endocrinol Metab; 1998 Sep; 83(9):3373-6. PubMed ID: 9745458
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect.
    Kosugi S; Bhayana S; Dean HJ
    J Clin Endocrinol Metab; 1999 Sep; 84(9):3248-53. PubMed ID: 10487695
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism.
    Pohlenz J; Refetoff S
    Biochimie; 1999 May; 81(5):469-76. PubMed ID: 10403177
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene.
    Pohlenz J; Medeiros-Neto G; Gross JL; Silveiro SP; Knobel M; Refetoff S
    Biochem Biophys Res Commun; 1997 Nov; 240(2):488-91. PubMed ID: 9388506
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel V59E missense mutation in the sodium iodide symporter gene in a family with iodide transport defect.
    Fujiwara H; Tatsumi K; Tanaka S; Kimura M; Nose O; Amino N
    Thyroid; 2000 Jun; 10(6):471-4. PubMed ID: 10907989
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect.
    Matsuda A; Kosugi S
    J Clin Endocrinol Metab; 1997 Dec; 82(12):3966-71. PubMed ID: 9398697
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.
    Pohlenz J; Rosenthal IM; Weiss RE; Jhiang SM; Burant C; Refetoff S
    J Clin Invest; 1998 Mar; 101(5):1028-35. PubMed ID: 9486973
    [TBL] [Abstract][Full Text] [Related]  

  • 8. High prevalence of T354P sodium/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures.
    Kosugi S; Sato Y; Matsuda A; Ohyama Y; Fujieda K; Inomata H; Kameya T; Isozaki O; Jhiang SM
    J Clin Endocrinol Metab; 1998 Nov; 83(11):4123-9. PubMed ID: 9814502
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD.
    Szinnai G; Kosugi S; Derrien C; Lucidarme N; David V; Czernichow P; Polak M
    J Clin Endocrinol Metab; 2006 Apr; 91(4):1199-204. PubMed ID: 16418213
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Recurrent T354P mutation of the Na+/I- symporter in patients with iodide transport defect.
    Fujiwara H; Tatsumi K; Miki K; Harada T; Okada S; Nose O; Kodama S; Amino N
    J Clin Endocrinol Metab; 1998 Aug; 83(8):2940-3. PubMed ID: 9709973
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The Q267E mutation in the sodium/iodide symporter (NIS) causes congenital iodide transport defect (ITD) by decreasing the NIS turnover number.
    De La Vieja A; Ginter CS; Carrasco N
    J Cell Sci; 2004 Feb; 117(Pt 5):677-87. PubMed ID: 14734652
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular analysis of a congenital iodide transport defect: G543E impairs maturation and trafficking of the Na+/I- symporter.
    De la Vieja A; Ginter CS; Carrasco N
    Mol Endocrinol; 2005 Nov; 19(11):2847-58. PubMed ID: 15976004
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel peculiar mutation in the sodium/iodide symporter gene in spanish siblings with iodide transport defect.
    Kosugi S; Okamoto H; Tamada A; Sanchez-Franco F
    J Clin Endocrinol Metab; 2002 Aug; 87(8):3830-6. PubMed ID: 12161518
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein.
    Tonacchera M; Agretti P; de Marco G; Elisei R; Perri A; Ambrogini E; De Servi M; Ceccarelli C; Viacava P; Refetoff S; Panunzi C; Bitti ML; Vitti P; Chiovato L; Pinchera A
    Clin Endocrinol (Oxf); 2003 Oct; 59(4):500-6. PubMed ID: 14510914
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Congenital hypothyroidism and late-onset goiter: identification and characterization of a novel mutation in the sodium/iodide symporter of the proband and family members.
    Montanelli L; Agretti P; Marco Gd; Bagattini B; Ceccarelli C; Brozzi F; Lettiero T; Cerbone M; Vitti P; Salerno M; Pinchera A; Tonacchera M
    Thyroid; 2009 Dec; 19(12):1419-25. PubMed ID: 19916865
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Failure of membrane targeting causes the functional defect of two mutant sodium iodide symporters.
    Pohlenz J; Duprez L; Weiss RE; Vassart G; Refetoff S; Costagliola S
    J Clin Endocrinol Metab; 2000 Jul; 85(7):2366-9. PubMed ID: 10902780
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Implications of the molecular characterization of the sodium-iodide symporter (NIS).
    Schmutzler C; Köhrle J
    Exp Clin Endocrinol Diabetes; 1998; 106 Suppl 3():S1-10. PubMed ID: 9865544
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Follicular thyroglobulin suppresses iodide uptake by suppressing expression of the sodium/iodide symporter gene.
    Suzuki K; Mori A; Saito J; Moriyama E; Ullianich L; Kohn LD
    Endocrinology; 1999 Nov; 140(11):5422-30. PubMed ID: 10537174
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Diagnosis of iodide transport defect: do we need to measure the saliva/serum radioactive iodide ratio to diagnose iodide transport defect?
    Fukata S; Hishinuma A; Nakatake N; Tajiri J
    Thyroid; 2010 Dec; 20(12):1419-21. PubMed ID: 21054210
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel Sodium/Iodide Symporter Compound Heterozygous Pathogenic Variants Causing Dyshormonogenic Congenital Hypothyroidism.
    Martín M; Bernal Barquero CE; Geysels RC; Papendieck P; Peyret V; Masini-Repiso AM; Chiesa AE; Nicola JP
    Thyroid; 2019 Jul; 29(7):1023-1026. PubMed ID: 31115276
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.