Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a

Journal of Pediatric Endocrinology and Metabolism

Volumn 15, Issue 3, 2002, Pages 259-268

  Lim, Sharon H M ^a   Poh, Larry K S ^a   Cowell, Chris T ^a   Tey, Beng Hea ^a   Loke, Kah Yin ^a  

^a NATIONAL UNIVERSITY HOSPITAL   (Singapore)

Author keywords

Gs gene; Mutational analysis; Pseudohypoparathyroidism

Indexed keywords

ARGININE; CALCITRIOL; CYTOSINE; GLYCINE; GNAS1 PROTEIN; GUANINE; GUANINE NUCLEOTIDE BINDING PROTEIN; LEVOTHYROXINE; PARATHYROID HORMONE; THYMINE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; EXON; FEMALE; GENE DELETION; GENE INSERTION; GENETIC ANALYSIS; HETERODUPLEX ANALYSIS; HUMAN; INFANT; MALE; MEDICAL LITERATURE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PSEUDOHYPOPARATHYROIDISM; PSEUDOHYPOPARATHYROIDISM TYPE 1A; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0036004507     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2002.15.3.259     Document Type: Article

References (37)

1. G proteins: A family of signal transduction: A family of signal transducers
2. The G protein family and their interaction with receptors
3. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy
4. Pseudohypoparathyroidism - An example of 'Seabright Bantam syndrome'
5. Molecular genetics of disorders of calcium homeostasis
6. GTP-binding proteins: Heterotrimeric G proteins
7. Pseudohypoparathyroidism: Defective excretion of 3′5′-AMP in response to parathyroid hormone
8. Synthetic human parathyroid hormone-(1-34) for the study of pseudohypoparathyroidism
9. The renal response to exogenous parathyroid hormone in treated pseudohypo-parathyroidism
10. Resistance to multiple hormones in patients with pseudohypoparathyroidism: Association with deficient activity of guanine nucleotide regulatory protein
11. Pseudohypoparathyroidism: Clinical and molecular aspects
12. Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: Biochemical, endocrine, and genetic hereditary osteodystrophy in six kindreds
13. Chromosomal localization of genes encoding guanine-nucleotide binding protein subunits in mouse and human
14. Isolation and characterization of the human Gs alpha gene
15. Imprinting in Albright's hereditary osteodystrophy
16. sα gene mutation
17. sα gene mutations in Albright's hereditary osteodystrophy
18. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
19. sα gene
20. sα demonstrates the importance of interactions between switches 2 and 3 for activation
21. Heterogeneous mutations in the gene encoding the α-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy
22. GNAS1 mutational analysis in pseudohypoparathyroidism
23. sα: Evidence for intramolecular signal transduction
24. sα impair receptor-mediated activation by altering receptor and guanine nucleotide binding
25. Conformational changes at the carboxyl terminus of Gα occur during G protein activation
26. sα impairs receptor stimulation
27. Pseudohypoparathyroidism type 1a presenting as congenital hypothyroidism
28. Defective stimulation of adipocyte adenylate cyclase, blunted lipolysis, and obesity in pseudohypoparathyroidism 1a
29. Paternal versus maternal transmission of a stimulatory G-protein α subunit knockout produces opposite effects on energy metabolism
30. A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy
31. s alpha gene (GNAS1) in patients with Albright hereditary osteodystrophy
32. Platelet signal transduction defect with Gα subunit dysfunction and diminished Gαq in a patient with abnormal platelet responses
33. sα gene
34. sα mutant
35. A novel mutation in the switch 3 region of Gs-alpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation
36. s