168 related articles for article (PubMed ID: 14510914)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. An Intramolecular Ionic Interaction Linking Defective Sodium/Iodide Symporter Transport to the Plasma Membrane and Dyshormonogenic Congenital Hypothyroidism.
Bernal Barquero CE; Martín M; Geysels RC; Peyret V; Papendieck P; Masini-Repiso AM; Chiesa AE; Nicola JP
Thyroid; 2022 Jan; 32(1):19-27. PubMed ID: 34726525
[No Abstract] [Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. A Novel SLC5A5 Variant Reveals the Crucial Role of Kinesin Light Chain 2 in Thyroid Hormonogenesis.
Martín M; Modenutti CP; Gil Rosas ML; Peyret V; Geysels RC; Bernal Barquero CE; Sobrero G; Muñoz L; Signorino M; Testa G; Miras MB; Masini-Repiso AM; Calcaterra NB; Coux G; Carrasco N; Martí MA; Nicola JP
J Clin Endocrinol Metab; 2021 Jun; 106(7):1867-1881. PubMed ID: 33912899
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Iodide transport defect: functional characterization of a novel mutation in the Na+/I- symporter 5'-untranslated region in a patient with congenital hypothyroidism.
Nicola JP; Nazar M; Serrano-Nascimento C; Goulart-Silva F; Sobrero G; Testa G; Nunes MT; Muñoz L; Miras M; Masini-Repiso AM
J Clin Endocrinol Metab; 2011 Jul; 96(7):E1100-7. PubMed ID: 21565787
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Congenital dyshormonogenic hypothyroidism with goiter caused by a sodium/iodide symporter (SLC5A5) mutation in a family of Shih-Tzu dogs.
Soler Arias EA; Castillo VA; Garcia JD; Fyfe JC
Domest Anim Endocrinol; 2018 Oct; 65():1-8. PubMed ID: 29777899
[TBL] [Abstract][Full Text] [Related]
16. The PDZ protein SCRIB regulates sodium/iodide symporter (NIS) expression at the basolateral plasma membrane.
Martín M; Salleron L; Peyret V; Geysels RC; Darrouzet E; Lindenthal S; Bernal Barquero CE; Masini-Repiso AM; Pourcher T; Nicola JP
FASEB J; 2021 Aug; 35(8):e21681. PubMed ID: 34196428
[TBL] [Abstract][Full Text] [Related]
17. Regulation and tissue distribution of the human sodium iodide symporter gene.
Ajjan RA; Kamaruddin NA; Crisp M; Watson PF; Ludgate M; Weetman AP
Clin Endocrinol (Oxf); 1998 Oct; 49(4):517-23. PubMed ID: 9876351
[TBL] [Abstract][Full Text] [Related]
18. The Iodide Transport Defect-Causing Y348D Mutation in the Na
Reyna-Neyra A; Jung L; Chakrabarti M; Suárez MX; Amzel LM; Carrasco N
Thyroid; 2021 Aug; 31(8):1272-1281. PubMed ID: 33779310
[No Abstract] [Full Text] [Related]
19. Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.
Nascimento AC; Guedes DR; Santos CS; Knobel M; Rubio IG; Medeiros-Neto G
Thyroid; 2003 Dec; 13(12):1145-51. PubMed ID: 14751036
[TBL] [Abstract][Full Text] [Related]
20. Impact of the Mutational Landscape of the Sodium/Iodide Symporter in Congenital Hypothyroidism.
Martín M; Nicola JP
Thyroid; 2021 Dec; 31(12):1776-1785. PubMed ID: 34514854
[No Abstract] [Full Text] [Related]
[Next] [New Search]
