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Article

Activating mutation of GS alpha in McCune-Albright syndrome causes skin pigmentation by tyrosinase gene activation on affected melanocytes.

Hormone research - 1 Jan 1999

Kim I S, Kim E R, Nam H J, Chin M O, Moon Y H, Oh M R, Yeo U C, Song S M, Kim J S, Uhm M R, Beck N S, Jin D K

Abstract excerpt

McCune-Albright syndrome (MAS) is a sporadic disease characterized by café-au-lait spots, polyostotic fibrous dysplasia and hyperfunctional endocrinopathies. To elucidate the mechanism of skin pigmentation, melanocytes, keratinocytes and fibroblasts were primary cultured from the café-au-lait spot of a MAS patient. Then, mutational analysis and morphologic evaluation were performed. Also, cAMP level and...

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Share to Cyclic AMP
Share to Fibrous Dysplasia, Polyostotic

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Expression Regulation, Enzymologic

Share to GTP-Binding Protein alpha Subunits, Gs

Share to Melanocytes

Share to Monophenol Monooxygenase

Share to Skin Pigmentation

Share to Transcriptional Activation

Source

Identifiers

PMID: 10844413
DOI: 10.1159/000023467

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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