Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure

Journal of Pediatrics

Volumn 137, Issue 2, 2000, Pages 272-276

  Iwatani, Noritaka ^a,b   Mabe, Hiroyo ^a,b   Devriendt, Koenraad ^a,b   Kodama, Mihoko ^a,b   Miike, Teruhisa ^a,b  

^a KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

THYROID TRANSCRIPTION FACTOR 1; THYROTROPIN;

ACUTE RESPIRATORY TRACT DISEASE; ARTICLE; CHROMOSOME 14Q; EMBRYO DEVELOPMENT; FEMALE; GENE DELETION; HUMAN; HYPOTHYROIDISM; INFANT; LUNG FUNCTION; MORPHOGENESIS; PRIORITY JOURNAL; RECURRENT DISEASE; RESPIRATORY FAILURE; THORAX RADIOGRAPHY;

EID: 0033837870     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2000.107111     Document Type: Article

References (23)

1. Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity
2. Cloning and sequence analysis of human thyroid transcription factor 1
3. The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the fetal brain
4. The T/ebp null mouse: Thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary
5. Thyroid-specific gene expression
6. Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1
7. Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure
8. Thyroid transcription factor 1 activates the promoter of the thyrotropin receptor gene
9. Redundant domains contribute to the transcriptional activity of the thyroid transcription factor 1
10. Gene structure and expression of human thyroid transcription factor-1 in respiratory epithelial cells
11. Lung cell-specific expression of the murine surfactant protein A (SP-A) gene is mediated by interactions between the SP-A promoter and thyroid transcription factor-1
12. The lung-specific surfactant protein B gene promoter is a target for thyroid transcription factor 1 and hepatocyte nuclear factor 3, indicating common factors for organ-specific gene expression along the foregut axis
13. Upstream enhancer activity in the human surfactant protein B gene is mediated by thyroid transcription factor 1
14. Transcription of the lung-specific surfactant protein Cis mediated by thyroid transcription factor 1
15. Regulation of Clara cell secretory gene transcription by thyroid transcription factor-1
16. Characterization and developmental expression of Pax9, a paired-box-containing gene related to Paxl
17. Expression of avian Paxl and Pax 9 is intrinsically regulated in the pharyngeal endoderm, but depends on environmental influences in the paraxial mesoderm
18. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
19. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
20. Absence of mutations in the gene encoding thyroid transcription factor-1 (TTF-1) in patients with thyroid dysgenesis
21. Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis
22. Sequence analysis of thyroid transcription factor-1 gene reveals absence of mutations in patients with thyroid dysgenesis but presence of polymorphisms in the 5' flanking region and intron
23. Analysis of the promoter of the thyrotropin receptor gene and the entire genomic sequence of thyroid transcription factor-1 in familial congenital hypothyroidism due to thyrotropin unresponsiveness