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Article

Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene.

The Journal of clinical endocrinology and metabolism - 1 May 1995

Schipani E, Weinstein L S, Bergwitz C, Iida-Klein A, Kong X F, Stuhrmann M, Kruse K, Whyte M P, Murray T, Schmidtke J

Abstract excerpt

Pseudohypoparathyroidism type Ib (PHP-Ib) is thought to be caused by a PTH/PTH-related peptide (PTHrP) receptor defect. To search for receptor mutations in genomic DNA from 17 PHP-Ib patients, three recently isolated human genomic DNA clones were further characterized by restriction enzyme mapping and nucleotide sequencing across intron/exon borders. Regions including all 14 coding exons and their splice...

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Identifiers

PMID: 7745008
DOI: 10.1210/jcem.80.5.7745008

Genes

PTH

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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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Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene.PMID 7745008Read ↗

Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib.Semantic proximity Read ↗

Pseudohypoparathyroidism 1b: exclusion of parathyroid hormone and its receptors as candidate disease genes.Semantic proximity Read ↗

Cloning and characterization of kidney-specific promoter of human PTH/PTHrP receptor gene: absence of mutation in patients with pseudohypoparathyroidism type Ib.Semantic proximity Read ↗

The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.Semantic proximity Read ↗

Receptors for parathyroid hormone and parathyroid hormone-related peptide: from molecular cloning to definition of diseases.Semantic proximity Read ↗

Pseudohypoparathyroidism type Ia. Albright hereditary osteodystrophy: a model for research on G protein-coupled receptors and genomic imprinting.Semantic proximity Read ↗

[PTH/PTHrP receptor and pseudohypoparathyroidism].Semantic proximity Read ↗

Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance.Semantic proximity Read ↗

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A 4-base pair deletion mutation of Gs alpha gene in a Japanese patient with pseudohypoparathyroidism.Semantic proximity Read ↗

A Frame-Shift Mutation in the Type I Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Causing Blomstrand Lethal OsteochondrodysplasiaSemantic proximity Read ↗

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