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Literature DB >> 9171822

Congenital hypothyroidism caused by a mutation in the Na+/I- symporter.

H Fujiwara, K Tatsumi, K Miki, T Harada, K Miyai, S Takai, N Amino.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 1997 PMID： 9171822 DOI： 10.1038/ng0697-124

Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330

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24 in total

Review 1. The biology of the sodium iodide symporter and its potential for targeted gene delivery.

Authors: Mohan Hingorani; Christine Spitzweg; Georges Vassaux; Kate Newbold; Alan Melcher; Hardev Pandha; Richard Vile; Kevin Harrington
Journal: Curr Cancer Drug Targets Date: 2010-03 Impact factor: 3.428

Review 2. Thyroid iodide efflux: a team effort?

Authors: Peying Fong
Journal: J Physiol Date: 2011-10-10 Impact factor: 5.182

3. Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.

Authors: J Pohlenz; I M Rosenthal; R E Weiss; S M Jhiang; C Burant; S Refetoff
Journal: J Clin Invest Date: 1998-03-01 Impact factor: 14.808

Review 4. Genetics of congenital hypothyroidism.

Authors: S M Park; V K K Chatterjee
Journal: J Med Genet Date: 2005-05 Impact factor: 6.318

5. Rare diseases in clinical endocrinology: a taxonomic classification system.

Authors: G Marcucci; L Cianferotti; P Beck-Peccoz; M Capezzone; F Cetani; A Colao; M V Davì; E degli Uberti; S Del Prato; R Elisei; A Faggiano; D Ferone; C Foresta; L Fugazzola; E Ghigo; G Giacchetti; F Giorgino; A Lenzi; P Malandrino; M Mannelli; C Marcocci; L Masi; F Pacini; G Opocher; A Radicioni; M Tonacchera; R Vigneri; M C Zatelli; M L Brandi
Journal: J Endocrinol Invest Date: 2014-11-07 Impact factor: 4.256

Congenital hypothyroidism caused by a mutation in the Na+/I- symporter.

Review 1. The biology of the sodium iodide symporter and its potential for targeted gene delivery.

Review 2. Thyroid iodide efflux: a team effort?

3. Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.

Review 4. Genetics of congenital hypothyroidism.

5. Rare diseases in clinical endocrinology: a taxonomic classification system.

Review 6. Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.

7. Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect.

8. Effect of thyroid statuses on sodium/iodide symporter (NIS) gene expression in the extrathyroidal tissues in mice.

9. Molecular characterization of V59E NIS, a Na+/I- symporter mutant that causes congenital I- transport defect.

10. Pathological Findings in Dyshormonogenetic Goiter with Defective Iodide Transport.