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Article

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

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Apr 2016

Takatani Rieko, Molinaro Angelo, Grigelioniene Giedre, Tafaj Olta, Watanabe Tomoyuki, Reyes Monica, Sharma Amita, Singhal Vibha, Raymond F Lucy, Linglart Agnès, Jüppner Harald

Abstract excerpt

Proximal tubular resistance to parathyroid hormone (PTH) resulting in hypocalcemia and hyperphosphatemia are preeminent abnormalities in pseudohypoparathyroidism type Ib (PHP1B), but resistance toward other hormones as well as variable features of Albright's Hereditary Osteodystrophy (AHO) can occur also. Genomic DNA from PHP1B patients shows epigenetic changes at one or multiple differentially methylated regions...

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Share to Cell Line, Transformed
Share to Chromogranins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to Epigenesis, Genetic

Share to Family

Share to GTP-Binding Protein alpha Subunits, Gs

Share to Pseudohypoparathyroidism

Share to Sequence Deletion

Source

Open in PubMed Open full text

Identifiers

PMID: 26479409
DOI: 10.1002/jbmr.2731
PMCID: PMC4826817

Genes

GNAS
PTH
STX16

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.PMID 26479409Read ↗

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

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