Determination of Gsα Protein Activity in Albright's Hereditary Osteodystrophy

Journal of Pediatric Endocrinology and Metabolism

Volumn 19, Issue , 2006, Pages 647-652

  Ahrens, Wiebke ^a   Hiort, Olaf ^a  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

Author keywords

Albright's hereditary osteodystrophy; Gs activity; GNAS gene mutations; pseudohypoparathyroidism

Indexed keywords

DNA; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; PARATHYROID HORMONE; VITAMIN D;

ADOLESCENT; ADULT; ALBRIGHT SYNDROME; ARTICLE; BLOOD; FEMALE; GENETIC SCREENING; GENETICS; HUMAN; MALE; MUTATION; PEDIGREE; PSEUDOHYPOPARATHYROIDISM; ANIMAL CELL; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; ERYTHROCYTE MEMBRANE; EXON; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HYPOCALCEMIA; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NONHUMAN; PARATHYROID HORMONE BLOOD LEVEL; SCREENING TEST;

ADOLESCENT; ADULT; DNA; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; GENETIC SCREENING; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MALE; MUTATION; PEDIGREE; PSEUDOHYPOPARATHYROIDISM;

EID: 33745250145     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/JPEM.2006.19.S2.647     Document Type: Article

References (11)

1. Marguet C, Mallet E, Basuyau JP, Martin D, Leroy M, Brunelle P. Clinical and biological heterogeneity in pseudohypoparathyroidism syndrome. Results of a multicenter study. Horm Res 1997; 48: 120-130.
2. Weinstein LS, Yu S, Warner DR, Liu J. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev 2001; 22: 675-705.
3. Weinstein LS, Chen M, Liu J. Gsα mutations and imprinting defects in human disease. Ann NY Acad Sci 2002; 968: 173-197.
4. Bastepe M, Jüppner H. GNAS locus and pseudohypoparathyroidism. Horm Res 2005; 63: 65-74.
5. Ahrens W, Hiort O, Staedt P, Kirschner T, Marschke C, Kruse K. Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 2001; 86: 4630-4634.
6. Riepe FG, Ahrens W, Krone N, Folster-Holst R, Brasch J, Sippell WG, Hiort O, Partsch CJ. Early manifestation of calcinosis cutis in pseudohypoparathyroidism type la associated with a novel mutation in the GNAS gene. Eur J Endocrinol 2005; 152: 515-519.
7. Pohlenz J, Ahrens W, Hiort O. A new heterozygous mutation (L338N) in the human Gsα (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy. Eur J Endocrinol 2003; 148: 463-468.
8. De Sanctis L, Romagnolo D, Olivero M, Buzi F, Maghnie M, Scire G, Crino A, Baroncelli GI, Salerno M, Di Maio S, Cappa M, Grosso S, Rigon F, Lala R, De Sanctis C, Dianzani I. Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. Pediatr Res 2003; 53: 749-755.
9. Levine MA, Downs RW Jr, Singer M, Marx SJ, Aurbach GD, Spiegel AM. Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism. Biochem Biophys Res Commun 1980; 94: 1319-1324.
10. Schutt SM, Ahrens W, Goepel W, Hagedorn-Greiwe M, Schutt M, Hiort O. Albright's hereditary osteodystrophy in a patient with partial 6p trisomy and partial 2p monosomy. Horm Res 2003; 60 (Suppl 2): S120.
11. Linglart A, Carel JC, Garabedian M, Le T, Mallet E, Kottler ML. GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. J Clin Endocrinol Metab 2002; 87: 189-197.