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Article

Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16.

Endocrinology - 1 Jun 2007

Fröhlich Leopold F, Bastepe Murat, Ozturk Defne, Abu-Zahra Hilal, Jüppner Harald

Abstract excerpt

Pseudohypoparathyroidism type Ib (PHP-Ib) is characterized by hypocalcemia and hyperphosphatemia due to proximal renal tubular resistance to PTH but without evidence for Albright's hereditary osteodystrophy. The disorder is paternally imprinted and affected individuals, but not unaffected carrier...

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Topics

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Share to Chromogranins
Share to DNA Methylation
Share to Epigenesis, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Gene Targeting

Share to GTP-Binding Protein alpha Subunits, Gs

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Share to Sequence Homology, Nucleic Acid

Source

Identifiers

PMID: 17317779
DOI: 10.1210/en.2006-1298

Genes

PTH
STX16
GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17317779-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16.PMID 17317779Read ↗

Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus.Semantic proximity Read ↗

Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism.Semantic proximity Read ↗

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

Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB.Semantic proximity Read ↗

Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.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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Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.Semantic proximity Read ↗

Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.Semantic proximity Read ↗

Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.Semantic proximity Read ↗

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