Similarities and differences in the phenotype of members of an Italian family with hereditary non-autoimmune hyperthyroidism associated with an activating TSH receptor germline mutation

Journal of Endocrinological Investigation

Volumn 25, Issue 8, 2002, Pages 696-701

  Arturi, F ^a   Chiefari, E ^a   Tumino, S ^b   Russo, D ^a   Squatrito, S ^b   Chazenbalk, G ^c   Persani, L ^d   Rapoport, B ^c   Filetti, Sebastiano ^e  

^a UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF MILAN   (Italy)

^e SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Familial hyperthyroidism; Non autoimmune hyperthyroidism; TSH receptor

Indexed keywords

IODINE 131; LIOTHYRONINE; METHIONINE; THIAMAZOLE; THYROTROPIN; THYROTROPIN RECEPTOR; THYROXINE; VALINE;

ADOLESCENT; ADULT; AMPLIFIED RIBOSOMAL DNA RESTRICTION ANALYSIS; ANIMAL CELL; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE COURSE; DNA EXTRACTION; DOSE RESPONSE; FACTORIAL ANALYSIS; FAMILY; FAMILY HISTORY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; GOITER; HETEROZYGOTE; HUMAN; HYPERTHYROIDISM; ITALY; LEUKOCYTE; MALE; MUTANT; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; OVARY CELL; PHENOTYPE; POLYMERASE CHAIN REACTION; PROGNOSIS; PROTEIN DOMAIN; RELAPSE; SCHOOL CHILD; THYROIDECTOMY;

ADULT; ANIMALS; CHO CELLS; CRICETINAE; FEMALE; GERM-LINE MUTATION; HUMANS; HYPERTHYROIDISM; MALE; METHIONINE; MIDDLE AGED; PEDIGREE; PHENOTYPE; RECEPTORS, THYROTROPIN; VALINE;

EID: 0036733847     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03345103     Document Type: Article

References (28)

1. Familial hyperthyroidism without evidence of autoimmunity
2. Clinical consequences of activating germline mutations of TSH receptor, the concept of toxic hyperplasia
3. Germline mutations in non-autoimmune the thyrotropin receptor gene cause autosomal dominant hyperthyroidism
4. Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia
5. Mutations of the TSH receptor as cause of congenital hyperthyroidism
6. Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism
7. Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor
8. Germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a chinese family
9. Variable phenotype associated with Ser505Asn-activating thyrotropin-receptor germline mutation
10. Constitutively activating TSH receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood
11. Novel TSHR germline mutation (Met463Val) masquerading as Graves' disease in a large Welsh kindred with hyperthyroidism
12. TSH receptor mutations and thyroid disease
13. Thyroid-stimulating hormone receptor mutations: Update and clinical implications
14. A Phe 486 thyrotropin receptor mutation in an autonomously functioning follicular carcinoma that was causing hyperthyroidism
15. Composite structure of the human thyrotropin receptor gene
16. Genetic alterations in thyroid hyperfunctioning adenomas
17. DNA sequencing with chain terminating inhibition
18. High-efficiency transformation of mammalian cells by plasmid DNA
19. The biological activity of bovine and human thyrotropin is differently affected by trypsin treatment of human thyroid cells: Thyroid-stimulating antibody is related to human thyrotropin
20. A simple, rapid and sensitive DNA assay procedure
21. Molecular insights into TSH receptor abnormality and thyroid disease
22. Structural studies of the thyrotropin receptor and Gsa in human thyroid cancers: Low prevalence of mutations predicts infrequent involvement in malignant transformation
23. Detection of an activating mutation of the thyrotropin receptor in a case of an autonomously hyperfunctioning thyroid insular carcinoma
24. A Val 677 activating mutation of the thyrotropin receptor in a Hurtle cell thyroid carcinoma associated with thyrotoxicosis
25. Editorial: TSH receptor and Gsa gene mutations in the pathogenesis of toxic thyroid adenomas - A note of caution
26. Thyroid hyperfunctioning adenomas with and without Gsp/TSH receptor mutations show similar clinical features
27. Somatic and germline mutations of the TSH receptor and thyroid disease
28. Sodium/iodide symporter: A key transport system in thyroid cancer cell metabolism