Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism

New England Journal of Medicine

Volumn 347, Issue 2, 2002, Pages 95-102

  Moreno, José C ^a,c   Bikker, Hennie ^a   Kempers, Marlies J E ^a   Paul Van Trotsenburg, A S ^a   Baas, Frank ^b   De Vijlder, Jan J M ^a   Vulsma, Thomas ^a   Ris Stalpers, C ^a  

^a EMMA CHILDREN S HOSPITAL   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c NONE   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; HYDROGEN PEROXIDE; IODINE; OXIDOREDUCTASE; THYROID HORMONE; THYROID OXIDASE 2; UNCLASSIFIED DRUG;

ALLELISM; ARTICLE; CLINICAL ARTICLE; CONGENITAL HYPOTHYROIDISM; CORRELATION ANALYSIS; FEMALE; GENE FUNCTION; GENE INACTIVATION; GENE MUTATION; HETEROZYGOSITY; HORMONE ACTION; HORMONE DEFICIENCY; HORMONE SYNTHESIS; HUMAN; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DOMAIN;

EID: 0037063119     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJMoa012752     Document Type: Article

References (46)

1. Effects of neonatal screening for hypothyroidism: Prevention of mental retardation by treatment before clinical manifestations
2. Thyroid development and disorders of thyroid function in the newborn
3. Transient hypothyroidism in the newborn infant
4. Hereditary metabolic disorders causing hypothyroidism
5. Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure
6. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
7. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
8. Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis
9. Absence of mutations in the gene encoding thyroid transcription factor-1 (TTF-1) in patients with thyroid dysgenesis
10. Transient impairment of thyroid function in newborn from an area of endemic goiter
11. Iodine-induced alterations of thyroid function in newborn infants after prenatal and perinatal exposure to povidone iodine
12. Transient congenital hypothyroidism after amniofetography
13. Familial neonatal transient hypothyroidism due to maternal TSH-binding inhibitor immunoglobulins
14. Thyroid function in very low birth weight infants: Effects on neonatal hypothyroidism screening
15. Effects of thyroxine supplementation on neurological development in infants born at less than 30 weeks' gestation
16. Transient congenital hypothyroidism in an infant with congenital nephrosis of the Finnish type
17. Transient primary hypothyroidism in the newborn: Experience of the Victorian Neonatal Thyroid Screening Programme
18. Hyperthyrothropinémie néonatal transitoire
19. Screening for congenital hypothyroidism: Results of screening one million North American infants
20. Transient neonatal hypothyroidism probably related to immaturity of thyroidal iodine organification
21. 2-generating system modulates protein iodination and the activity of the pentose phosphate pathway in dog
22. Purification of a novel flavoprotein involved in the thyroid NADPH oxidase
23. Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family
24. Cloning of tissue-specific genes using serial analysis of gene expression and a novel computational substraction approach
25. 2+ binding motifs
26. Two decades of screening for congenital hypothyroidism in the Netherlands: TPO gene mutations in total iodide organification defects (an update)
27. Two novel cysteine substirations (C1263K and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter
28. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
29. Two frequent missense mutations in Pendred syndrome
30. The screening for mutations in the thyroglobulin CDNA from six patients with congenital hypothyroidism
31. A negative iodine balance is found in healthy neonates compared with neonates with thyroid agenesis
32. Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis
33. Denaturing high-performance liquid chromatography: A review
34. Management of congenital hypothyroidism
35. Age-related changes in serum free thyroxine during childhood and adolescence
36. Maternal-fetal transfer of thyroxine in congenital hypothyroidism due to a total organification defect or thyroid agenesis
37. In vivo radionuclide tests and imaging
38. Deficient cytochrome b5 reductase activity in nontoxic goiter with iodide organification defect
39. 2 supply in the thyroid of a patient with goiter and iodine organification defect
40. 2-generating activity
41. Functional analysis of the NADPH oxidase in granulocytic cells expressing a delta488-497 gp91(phox) deletion mutant
42. 2-generating system
43. Childhood IQ measurements in infants with transient congenital hypothyroidism
44. Maternal thyroid deficiency during pregnancy and subsequent neuropsychological development of the child
45. Low normal maternal free thyroxine concentrations during early pregnancy are associated with impaired psychomotor development in infancy