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Article

Imprinting and skeletal disorders: lessons from pseudohypoparathyroidism and related disorders.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 28 Oct 2025

Iwasaki Yorihiro, Bastepe Murat

Abstract excerpt

Pseudohypoparathyroidism (PHP) was first described as a syndrome characterized by PTH resistance combined with skeletal abnormalities known as Albright's hereditary osteodystrophy (AHO). Studies have since focused on genetic or epigenetic alterations underlying PHP and related disorders. The α-subunit of the stimulatory G protein (Gsα) mediates the signaling of G protein-coupled receptors that stimulate cAMP...

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

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Source

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Identifiers

PMID: 40972900
DOI: 10.1093/jbmr/zjaf122
PMCID: PMC12578285

Genes

GNAS
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 19 Oct 2026.

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Imprinting and skeletal disorders: lessons from pseudohypoparathyroidism and related disorders.PMID 40972900Read ↗

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GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?Semantic proximity Read ↗

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.Semantic proximity Read ↗

Different pattern of epigenetic changes of the GNAS gene locus in patients with pseudohypoparathyroidism type Ic confirm the heterogeneity of underlying pathomechanisms in this subgroup of pseudohypoparathyroidism and the demand for a new classification of GNAS-related disorders.Semantic proximity Read ↗

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Genetics of pseudohypoparathyroidism types Ia and Ic.Semantic proximity Read ↗

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.Semantic proximity Read ↗

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