Familial Albright's Hereditary Osteodystrophy with Hypoparathyroidism: Normal Structural Gsα Gene

Journal of Clinical Endocrinology and Metabolism

Volumn 81, Issue 4, 1996, Pages 1660-1662

  Shapira, Hagit ^a   Friedman, Eitan ^a   Mouallem, Meir ^a   Farfel, Zvi ^a,b  

^a TEL AVIV UNIVERSITY   (Israel)

^b SHEBA MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

PARATHYROID HORMONE; PARATHYROID HORMONE[1-34]; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ADULT; ALBRIGHT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; FAMILIAL DISEASE; FEMALE; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; METACARPOPHALANGEAL JOINT; PARATHYROID HORMONE BLOOD LEVEL; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; PSEUDOPSEUDOHYPOPARATHYROIDISM;

ADULT; BLOTTING, SOUTHERN; BONE AND BONES; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; GENES; GTP-BINDING PROTEINS; HUMANS; HYPOPARATHYROIDISM; MALE; PARATHYROID HORMONE; PEDIGREE; PSEUDOHYPOPARATHYROIDISM; PSEUDOPSEUDOHYPOPARATHYROIDISM; REFERENCE VALUES;

EID: 0029988351     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.81.4.8636385     Document Type: Review

References (20)

1. Albright F, Burnett CH, Smith PH. 1942 Pseudohypoparathyroidism: an example of "Seabright-Bantam syndrome." Endocrinology. 30:922-932.
2. Levine MA, Spiegel AM. 1995 Pseudohypoparathyroidism. In: DeGroot LJ, ed. Endocrinology, 4th ed. Philadelphia: Saunders; 1136-1150.
3. a subunits that interact with Gβγ, receptors and effectors. Cell. 73:631-641.
4. Farfel Z, Brickman AS, Kaslow HR, Brothers VM, Bourne HR. 1980 Defect of receptor-cyclase coupling protein in Pseudohypoparathyroidism. N Engl J Med. 303:237-242.
5. Levine MA, Downs RW, Singer MJ, Marx SJ, Aurbach GD, Spiegel AM.. 1980 Deficient activity of the guanine nucleotide regulatory protein in erythrocytes from patients with Pseudohypoparathyroidism. Biochem Biophys Res Commun. 94:1319-1324.
6. Farfel Z, Brothers VM, Brickman AS, Conte F, Neer R, Bourne HR. 1981. Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity. Proc Natl Acad Sci USA. 78:3098-3102.
7. Levine MA, Jap TS, Mauseth RS, Downs RW, Spiegel AM. 1986 Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with Pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright hereditary osteodystrophy in six kindreds. J Clin Endocrinol Metab. 62:497-502.
8. Iiri T, Herzmark P, Nakamoto JM, Van-Dop C, Bourne HR. 1994 Rapid GDP release from Gsα in patients with gain and loss of endocrine function. Nature. 371:164-168.
9. sα gene (GNAS 1) Albright hereditary osteodystrophy. Genomics. 21:455-457.
10. sα mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylate cyclase. J Biol Chem. 269:25387-25391.
11. sα gene. Hum Genet. 97:73-75.
12. Mozes AM, Rao KJ, Coulson R, Miller M. 1974 Parathyroid hormone deficiency with Albright's hereditary osteodystrophy. J Clin Endocrinol Metab. 39:496-500.
13. Le Roith D, Burshell AC, Ilia R, Glick SM. 1979 Short metacarpal in a patient with idiopathic hypoparathyroidism. Isr J Med Sci. 15:460-461.
14. Mallette LE, Kirkland JL, Law Jr WM, Heath H. 1988 III. Synthetic human parathyroid hormone-(1-34) for the study of hypoparathyroidism. J Clin Endocrinol Metab. 67:964-972.
15. Poznanski AK, Verder EA, Giedion A. 1977 The pattern of shortening of the bones of the hand in PHP and PPHP - a comparison with brachydactyly E, Turner syndrome, and acrodysostosis. Radiology. 123:707-718.
16. s and stimulate adenylate cyclase in human pituitary tumours. Nature. 340:692-696.
17. Kozasa T, Itoh H, Tsukamoto T, Kaziro Y. 1988 Isolation and characterization of the human Gs alpha gene. Proc Natl Acad Sci USA. 85:2081-2085.
18. Farfel Z, Friedman E. 1986 Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency. Ann Intern Med. 105:197-199.
19. Fitch N. 1982 Albright's hereditary osteodystrophy: a review. Am J Med Genet. 11:11-29.
20. Riccardi VM, Holmes LB. 1974 Brachydactyly, type E: hereditary shortening of digits, metacarpals, metatarsals, and long bones. J Pediatr. 84:251-254.