Searching for Arg201 mutations in the GNAS1 gene in Italian patients with McCune-Albright syndrome

Journal of Pediatric Endocrinology and Metabolism

Volumn 15, Issue SUPPL. 3, 2002, Pages 883-889

  de Sanctis, Luisa ^a   Romagnolo, Damiano ^a   Greggio, Nella ^a   Genitori, Lorenzo ^a   Lala, Roberto ^a   de Sanctis, Carlo ^a  

^a UNIVERSITY OF TURIN   (Italy)

Author keywords

GNAS1 Gene; McCune Albright syndrome; Molecular analysis

Indexed keywords

ARGININE; CYCLIC AMP; PROTEIN SUBUNIT; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ADOLESCENT; ADULT; ALBRIGHT SYNDROME; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BONE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENDOCRINE GLAND; FEMALE; GENETIC CODE; HUMAN; HUMAN CELL; HUMAN TISSUE; ITALY; MALE; MOSAICISM; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; SKIN; SOMATIC MUTATION; TECHNIQUE; ZYGOTE; EXON; GENETICS; MUTATION; PRESCHOOL CHILD; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; ALLELES; AMINO ACID SUBSTITUTION; ARGININE; CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; G-PROTEIN, STIMULATORY GS; HUMAN; ITALY; MALE; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS;

EID: 0036045307     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome
2. Identification of a mutation in the gene encoding the α subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome
3. s
4. Sα mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome
5. McCune-Albright syndrome
6. The McCune-Albright syndrome
7. McCune-Albright syndrome: A longitudinal clinical study on 32 patients
8. Clinical implications of genetic defects in G proteins: Oncogenic mutations in G alpha s as the molecular basis for the McCune-Albright syndrome
9. McCune-Albright syndrome: New insights
10. Sα-subunit from bone lesion
11. Rare mutations of the Gs alpha subunit gene in human endocrine tumors. Mutation detection by polymerase chain reaction-primer-introduced restriction analysis
12. Sα from patients with fibrous dysplasia of bone
13. Activating mutation of Gs alpha in McCune-Albright syndrome causes skin pigmentation by tyrosinase gene activation on affected melanocytes
14. Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non McCune-Albright fibrous dysplasia of bone
15. Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients
16. Sα mutation at codon 201 in pituitary Adenoma causing gigantism in a 6-year-old boy with McCune-Albright syndrome
17. A case of pituitary adenoma associated with McCune-Albright syndrome