PRKAR1AMutation Affecting cAMP-Mediated G Protein-Coupled Receptor Signaling in a Patient with Acrodysostosis and Hormone Resistance | Zendy

Keisuke Nagasaki | Zendy; Tomoko Iida | Zendy; Hidetoshi Sato | Zendy; Yohei Ogawa | Zendy; Toru Kikuchi | Zendy; Akihiko Saitoh | Zendy; Tsutomu Ogata | Zendy; Maki Fukami | Zendy

Open Access

PRKAR1AMutation Affecting cAMP-Mediated G Protein-Coupled Receptor Signaling in a Patient with Acrodysostosis and Hormone Resistance

Author(s) -

Keisuke Nagasaki,

Tomoko Iida,

Hidetoshi Sato,

Yohei Ogawa,

Toru Kikuchi,

Akihiko Saitoh,

Tsutomu Ogata,

Maki Fukami

Publication year - 2012

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2012-1369

Subject(s) - gnas complex locus , pseudohypoparathyroidism , gs alpha subunit , signal transduction , biology , creb1 , endocrinology , medicine , mutation , genetics , creb , g protein , parathyroid hormone , transcription factor , gene , calcium

Acrodysostosis is a rare autosomal dominant disorder characterized by short stature, peculiar facial appearance with nasal hypoplasia, and short metacarpotarsals and phalanges with cone-shaped epiphyses. Recently, mutations of PRKAR1A and PDE4D downstream of GNAS on the cAMP-mediated G protein-coupled receptor (GPCR) signaling cascade have been identified in acrodysostosis with and without hormone resistance, although functional studies have been performed only for p.R368X of PRKAR1A.

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